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Sample records for dysplastic nevus syndrome

  1. ON NEVI AND MELANOMAS IN DYSPLASTIC NEVUS SYNDROME PATIENTS

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    CRIJNS, MB; BERGMAN, W; Berger, MJ; HERMANS, J; SOBER, AJ

    1993-01-01

    Cutaneous melanoma may occur as isolated, so-called 'sporadic' cases or in association with multiple atyical naevi and in familial clusters, in which case it is referred to as the familial dysplastic naevus syndrome (DNS). In this retrospective study (a) the number and body distribution of naevocyti

  2. Epidermal nevus syndrome and dysplatic kidney disease.

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    Azar Nickavar

    2014-08-01

    Full Text Available Epidermal nevus syndrome is a rare congenital disorder, characterized by epidermal nevi and multiple organ involvement. Multicystic kidney disease has been very rarely reported in this syndrome. Here is the report of a boy presented with multiple epidermal nevi, cardiac anomaly, seizure attack, hemi hypertrophy, and multicystic dysplastic kidney complicated with Wilms' tumor. According to this association, it is suggested to search for dysplastic kidney disease in patients with neurocutaneous disorders.

  3. Nevo displásico (nevo atípico Dysplastic nevus (atypical nevus

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    Gisele Gargantini Rezze

    2010-12-01

    Full Text Available O nevo atípico (displásico é considerado um fator importante associado com o risco aumentado de desenvolvimento do melanoma cutâneo. Acredita-se que nevos atípicos sejam lesões precursoras do melanoma cutâneo. Podem estar presentes em pacientes com múltiplos nevos melanocíticos (síndrome do nevo atípico ou isolados e em poucas quantidades em um contexto não familial. Aparecem, geralmente, na puberdade e prevalecem em indivíduos jovens. Têm predileção por áreas expostas ao sol, especialmente, o tronco. O grande desafio em relação ao nevo atípico reside na controvérsia em se definir sua nomenclatura, diagnóstico clínico, critérios dermatoscópicos, diagnóstico histopatológico e aspectos moleculares. Esta revisão tem por objetivo trazer o conhecimento, facilitar o entendimento e responder às questões duvidosas concernentes ao nevo atípico.Atypical nevum (dysplastic is considered an important factor associated with increased risk of developing cutaneous melanoma. It is believed that atypical nevi are precursor lesions of cutaneous melanoma. They may be present in patients with multiple melanocytic nevi (atypical nevus syndrome or isolated and in small numbers in a non-familial context. The disease usually begins at puberty and predominates in young people. It has a predilection for sun-exposed areas, especially the trunk. The major challenge in relation to atypical nevi lies in the controversy of defining its nomenclature, clinical diagnosis, dermoscopic criteria, histopathological diagnosis and molecular aspects. This review aims at bringing knowledge, facilitating comprehension and clarifying doubts about atypical nevus.

  4. Epidermal nevus syndromes.

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    Asch, Sarah; Sugarman, Jeffrey L

    2015-01-01

    The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. The majority of the extracutaneous manifestations involve the brain, eye, and skeletal systems. The CNS involvement is wide ranging and involves both clinical manifestations such as intellectual disability and seizures, as well as structural anomalies. Several subsets of ENS with characteristic features have been delineated including the nevus sebaceus syndrome, Proteus syndrome, CHILD syndrome, Becker's nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica. Advances in molecular biology have revealed that the manifestations of ENS are due to genomic mosaicism. It is likely that the varied clinical manifestations of ENS are due in great part to the functional effects of specific genetic defects. Optimal management of the patient with ENS involves an interdisciplinary approach given the potential for multisystem involvement. Of note, epidermal nevi have been associated with both benign and malignant neoplasms, and thus ongoing clinical follow-up is required.

  5. Epidermal nevus syndrome.

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    Laura, Flores-Sarnat

    2013-01-01

    Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in skeletal, ocular, cardiovascular, endocrine, and orodental tissues, as well as lipomas, are due to defective neural crest. The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs. They consist mainly of epilepsy and developmental delay or intellectual disability. The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term "Heide's syndrome" for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic. The mechanism is thought to be genetic mosaicism with a lethal autosomal dominant gene. Specific genetic mutations (PTEN, FGFR3, PIK3CA, and AKT1) have been documented in some patients. The large number of contributors for over more than a century and a half to the description of these disorders precludes the use of new author eponyms.

  6. A Case of Epidermal Nervous Syndrome with a Novel Association of Congenital Cystic Dysplastic Kidney with Numerous Nephroblastic Proliferations

    Science.gov (United States)

    2016-04-19

    Epidermal nevus syndrome is a broad term encompassing several disease processes. These entities are united by their association with epidermal nevi...and extracutaneous abnormalities. Renal aberrancies associated with this syndrome include nephroblastoma, hamartomas, hypoplasia, and renal agenesis...However, there are no well-described, documented cases of dysplastic kidney with cystic nephroblastic proliferation associated with epidermal nevus

  7. Becker′s nevus syndrome

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    Sathyanarayana B Dasegowda

    2014-01-01

    Full Text Available Becker′s nevus is a cutaneous hamartoma characterized by circumscribed hyperpigmentation with hypertrichosis. Becker′s nevus syndrome is an association of Becker′s nevus with unilateral breast hypoplasia and muscle, skin, and/or skeletal abnormalities. We here report a case of a 15 year-old female who presented with bilateral Becker′s nevus over her groins, thighs, vulva, and in front of the neck from the age of 5 years. She had associated mental retardation, delayed development of mile stones, delayed puberty, dwarfism, depressed nasal bridge, long slender digits, crowding of lateral toes, valgus deformity of first metatarsophalangeal joint, mitral valve prolapse, muddy conjunctiva with hypertrophic and hyperpigmented caruncle of both eyes, ichthyosis, brownish hair, and absence of axillary and pubic hair. On histopathological examination collagen hamartoma underneath the Becker′s nevus was found.

  8. Linear sebaceous nevus syndrome with hemimegalencephaly

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    Bae, Kyeung Kug; Byun, Woo Mok; Cho, Jae Ho; Cho, Kil Ho [Yeungnam Univ. College of Medicine, Seoul (Korea, Republic of)

    1997-11-01

    Linear sebaceous nevus syndrome, which is the association of nevus sebaceous of Jadassohn in the midfacial area with seizure and mental deficiency, has been reported in at least 100 cases. Hemimegalencephaly is a rare malformation consisting of unilateral hypertrophy of the brain, an abnormal gyral pattern, thickened cortex, white matter abnormality, and lateral ventricular dilatation. The authors report a case of linear sebaceous nevus syndrome with hemimegalencephaly, diagnosed on the basis of clinical data and brain MRI.

  9. Linear Nevus Sebaceum Syndrome and Infantile Spasms

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    J Gordon Millichap

    2008-03-01

    Full Text Available Two infants with linear nevus sebaceum syndrome and infantile spasms are reported from Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Israel; and Hospital for Sick Children, Toronto, Canada.

  10. Do you know this syndrome? Becker nevus syndrome.

    Science.gov (United States)

    Steiner, Denise; Silva, Fernanda Ayres de Morais e; Pessanha, André César Antiori Freire; Bialeski, Nediana; Feola, Camila; Buzzoni, Carla Arantes Bertolucci

    2011-01-01

    Becker nevus syndrome is the association of Becker's nevus with breast hypoplasia and other ipsilateral bone or muscle changes. It is considered to be a hormone-dependent disorder caused by a disturbance in the activity of the androgen receptor that appears to be increased in Becker's nevus, which may influence the development of associated lesions. We present a relevant case of this syndrome due to the rare systematization of the lesions in addition to the exuberant extracutaneous involvement in this case.

  11. [Gregor Mendel and dysplastic nevi].

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    Happle, R

    1989-02-01

    In contrast to what has so far generally been believed, dysplastic nevi do not appear to be mendelizing, but rather due to polygenic inheritance. In order to explain this contrasting idea, the following six theses are presented: (1) All dysplastic nevi are inherited in the same manner. (2) Dysplastic nevi constitute a continuous trait. (3) A "dysplastic nevus syndrome" in the form of a monogenic autosomal dominant trait probably does not exist. (4) A nonhereditary dysplastic nevus syndrome does not exist. (5) The number of the underlying genes that, considered separately, do of course follow the rules of mendelian inheritance is so far unknown. (6) A search for a single underlying gene defect is probably hopeless.

  12. Basal cell nevus syndrome or Gorlin syndrome.

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    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial.

  13. Radiologic study of basal cell nevus syndrome

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    Park, Tae Won [Dept. of Oral Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1988-11-15

    Several cases of jaw cyst-basal cell nevus-bifid rib syndrome are presented. This syndrome consists principally of multiple jaw cysts, basal cell nevi, and bifid ribs but no one component is present in all patients. The purpose of this paper is to review the multiple characteristics of this syndrome and present three cases in a family and additional 4 cases. The many malformations associated with the syndrome have variable expressively. In the cases, multiple jaw cysts, pal mar and plantar pittings, bridging of sella, temporoparietal bossing, hypertelorism, cleft palate, and dystopia canthoru m have been observed.

  14. Epidermal Nevus Syndrome Associated with Brain Malformations and Medulloblastoma

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    J Gordon Millichap

    2013-01-01

    Full Text Available Researchers at Juntendo University and Tokyo Women’s Medical University, Japan; and University of California, San Francisco, Ca, report a male infant with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

  15. Basal Cell Nevus Syndrome. A Case Presentation

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    Ángel Luis Cruz Leiva

    2007-12-01

    Full Text Available Basal Cell Nevus Syndrome is an infrequent entity of very low incidence according to reports in medical literature. It is characterized by considerable groups of alterations which are presented in the organism in a variable way, and with localized lesions in the maxillofacial area. A 61 year-old white male patient who lives in the urban area of Cienfuegos city is presented. He has family references of numerous physical deformities since he was born such as mental retardation, presence of moles since the first decade of his life and augmentation of the mandibular body volume. The diagnosis was keratocysts based on the clinical and radiological examinations as well as histopathological studies.

  16. Multiple jaw cysts not associated with basal cell nevus syndrome

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    Yoon, Suk Ja; Kang, Byung Cheol [Chonnam National University College of Medicine, Kwangju (Korea, Republic of)

    2003-09-15

    We present two cases of multiple jaw cysts not associated with basal cell nevus syndrome. Case 1 : a nine year-old boy visited CNU Hospital for orthodontic treatment and his radiographs showed cystic lesions surrounding the crowns of teeth 13 and 17 respectively, which were diagnosed as dentigerous cysts. Subsequently, two more cysts were found on his follow-up radiographs in 12 and 15 months. The two cysts were determined to be odontogenic keratocysts. The boy had no skeletal abnormalities and no skin lesions associated with basal cell nevus syndrome. Case 2: a fifty-eight year old man had three impacted third molars with pericoronal radiolucencies, which were diagnosed as dentigerous cysts. He had no additional abnormalities associated with basal cell nevus syndrome. Multiple jaw cysts can occur at any age, and periodic radiographic surveillance may be needed for any cases of impacted tooth.

  17. Becker’s Nevus Syndrome in a Pediatric Female Patient

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    Sara Hernandez-Quiceno

    2016-01-01

    Full Text Available Becker’s nevus syndrome is part of the epidermal nevus syndromes and has been described with a phenotype that includes Becker’s nevus, ipsilateral breast hypoplasia, and variable skeletal malformations. It is more frequent in males than in females (5 : 1 but is more relevant in females. The diagnosis is clinically based and the skin lesion must be present and no other numbered criteria have been established, but with more criteria being present the possibility of the diagnosis is higher. Regarding the treatment of breast hypoplasia, the use of antiandrogen medication has demonstrated adequate clinical response in a dose of 50 mg/day of spironolactone.

  18. Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus

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    Paresh Zanzmera

    2015-01-01

    Full Text Available Sturge-Weber syndrome (SWS, a rare sporadic neurocutaneous disease, is characterized by a congenital unilateral port-wine nevus affecting the area innervated by V1, ipsilateral leptomeningeal angiomatosis, and calcification in the occipital or frontoparietal region and glaucoma/vascular eye abnormality. Three types of SWS have been described in literature: Type I (classic demonstrates facial and leptomeningeal angioma, often with glaucoma; type II has facial angioma and glaucoma, with no evidence of intracranial lesions; and type III (rarest presents with only leptomeningeal angioma. Only a few cases of type III SWS have been reported. Here, we report a case of a seven-year-old boy with focal complex partial seizure, who was diagnosed with SWS without facial nevus. Recognition of this type of SWS is important, as our patient had been misdiagnosed and received inappropriate antiepileptic drugs for six years. We suggest that in the appropriate clinical scenario, the diagnosis of SWS without facial nevus should be considered before labelling idiopathic or cryptogenic localization-related epilepsy, and gadolinium-enhanced magnetic resonance imaging (MRI should be done in clinically suspicious cases of SWS, without facial nevus.

  19. Blue rubber bleb nevus syndrome: a report of one case associated with recurrent epistaxis

    Institute of Scientific and Technical Information of China (English)

    LIU Qiong; CHEN Yi-peng; LI You-ming

    2007-01-01

    @@ Blue rubber bleb nevus syndrome (BRBNS), or Bean's syndrome, is a rare angiomatosis characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause massive or occult gastrointestinal hemorrhage and iron deficiency anemia secondary to the bleeding episodes.

  20. Histopathology in the iris-nevus (Cogan-Reese) syndrome.

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    Radius, R L; Herschler, J

    1980-06-01

    A 23-year-old-woman had iris-nevus (Cogan-Reese) syndrome characterized by unilateral glaucoma with peripheral anterior synechiae, multiple iris nodules, and ectopic Descemet's membrane. A surgical specimen excised from the involved eye was examined by light and electron microscopy. A cuticular membrane covered both the anterior and posterior surfaces of the iris in this specimen. On the anterior surface of the iris, many projections of apparently normal iris stroma pierced or were surrounded by this membrane. On the posterior surface of the iris, this membrane was associated with a monolayer of cuboidal cells.

  1. Síndrome do nevus organóide: relato de caso Organoid nevus syndrome: case report

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    Priscilla Luppi Ballalai

    2001-08-01

    Full Text Available Os autores apresentam um caso de uma criança com síndrome do nevus organóide, que se caracteriza pela presença de uma lesão epibulbar em olho direito, associada a nevus sebáceo de Jadassohn em couro cabeludo e cisto de aracnóide na fossa temporal. O exame anatomopatológico da lesão ocular revelou a presença de tecidos de origem ectodérmica e mesodérmica, levando ao raro diagnóstico de coristoma epibulbar complexo. A síndrome é raramente descrita na literatura oftalmológica. São feitas considerações a respeito das alterações oftalmológicas e sistêmicas associadas a esta síndrome.The authors present a case of a child with organoid nevus syndrome, characterized by epibulbar choristoma in the right eye, Jadassohn's nevus sebaceous in the scalp and arachnoid cist. The pathology of the ocular lesion revealed a mixture of ectodermal and mesodermal elements, leding to the rare diagnosis of epibulbar complex choristoma.The syndrome is rarely described in the ophthalmologic literature. Some considerations are made regarding ophthalmologic and systemic associations.

  2. Speckled lentiginous nevus syndrome with median nerve paresis: A rare syndrome with a new association

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    Vibhu Mendiratta

    2013-01-01

    Full Text Available Speckled lentiginous nevus (SLN represents a mosaic phenotype which consists of café au lait macule superimposed by melanocytic nevi. Recently, SLN syndrome has been characterized where ipsilateral neurological abnormalities have been reported in association with SLN with papular type of melanocytic nevi only. This case describes the presence of ipsilateral thenar muscle atrophy with median nerve paresis in nevus spilus which had melanocytic nevi of the macular type alone, thus delineating a new association in SLN syndrome, hitherto unreported.

  3. Prune belly syndrome associated with bilateral multicystic dysplastic kidneys and urethral obstruction: A case report

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    Arzu Akdag

    2015-06-01

    Full Text Available Prune belly syndrome is a rare congenital disorder defined by a characteristic clinical triad: Abdominal muscle deficiency, severe urinary tract abnormalities, and bilateral cryptorchidism. We describe a preterm neonate of Prune Belly syndrome who had abdominal muscle deficiency, multicystic dysplastic kidney, urethral hypoplasia and pulmonary hypoplasia. We presented this rare case with the data gathered from the literatüre.

  4. A case of sebaceous nevus sindrome (Schimmelpen-ning-Feuerstein-Mims syndrome).

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    Rubegni, P; Poggiali, S; Sbano, P; Nami, N; Hayek, J; Motolese, P A; Fimiani, M

    2009-10-01

    The sebaceous nevus syndrome (SNS) is characterized by the presence of a sebaceous nevus and extracutaneous abnormalities, usually involving organs derived from the neuroectoderm. The authors report the case of a 22 year-old patient with a systematized sebaceous nevus on the forehead and scalp and a history of developmental delay and severe seizure disorders. The father of the patient also indicated prior surgery to correct an ocular coloboma and prior removal of a squamous cell epithelioma of the tongue. Firstly described by Gustav Schimmelpenning in 1957, SNS, also known as 'Schimmelpenning-Feuerstein-Mims syndrome', is one of the six different types of epidermal nevus syndromes. In patients with SNS the risk of developing neoplasms is higher than that of the general population. The particularity of our case lies in the late diagnosis. The authors believe that early diagnosis and awareness of the potential presence of neoplasms are important for those involved in the care of patients with SNS.

  5. Jaw cyst-Basal cell nevus-Bifid rib syndrome: a case report.

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    Rai, S; Gauba, K

    2007-01-01

    Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideration while explaining the prognosis to the patient. A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.

  6. Jaw cyst-Basal cell nevus-Bifid rib syndrome: A case report

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    Rai S

    2007-09-01

    Full Text Available Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideration while explaining the prognosis to the patient. A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.

  7. Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis.

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    Singal, A; Vohra, S; Sharma, R; Bhatt, S

    2016-06-08

    Blue rubber bleb nevus syndrome is a rare clinical entity. A 13-year-old Indian boy presented with characteristic cutaneous lesions, gastrointestinal malformations, skeletal involvement and pulmonary stenosis. Diagnosis was confirmed on skin biopsy, radiographic evaluation, colonoscopy and echocardiography. Echocardiography revealed pulmonary stenosis, an association hitherto undescribed. Detailed evaluation in a patient of blue rubber bleb nerves syndrome is mandatory.

  8. A Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly.

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    Cornelius, Leema Pauline; Raju, Vivekasaravanan; Lalapet, Ravi A

    2017-01-01

    Epilepsia partialis continua (EPC) is a form of focal status epilepticus often refractory to anticonvulsant therapy. A wide range of abnormalities such as inflammatory, vascular, metabolic-toxic, developmental malformations, and neoplasia cause EPC. Linear nevus syndrome with hemimegalencephaly is one of the developmental malformations that can present with EPC.

  9. BLUE RUBBER BLEB NEVUS SYNDROME TREATED BY CHINESE HERBAL MEDICINE: A CASE REPORTAND REVIEW OF LITERATURE

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by multifocal venous malformations. The malformations are most prominent in the skin, soft tissues, gastrointestinal tract, and, less often, in other internal organs. A patient may have from several to hundreds of hemangiomas and treatment of BRBNS is mainly symptomatic. We report a unique case of BRBNS typically with skin hemangiomas, iron deficiency anemia and an episode of internal hemorrhage in such a patient, who was tr...

  10. Hypersensitivity to G/sub 2/ chromatid radiation damage in familial dysplastic naevus syndrome

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    Sanford, K.K.; Tarone, R.E.; Parshad, Ram; Tucker, M.A.; Greene, M.H.; Jones, G.M.

    1987-11-14

    Skin fibroblasts from 25 members of nine kindreds with familial dysplastic naevus syndrome (DNS), 12 apparently normal spouses, and 11 additional unrelated normal individuals were tested for G/sub 2/ cell-cycle phase sensitivity to ionising radiation. The cells from individuals with DNS or hereditary cutaneous malignant melanoma with DNS (HCMM/DNS) had significantly more chromatid breaks and gaps when entering metaphase 0.5-1.5 h after G/sub 2/ phase X-irradiation (1 Gy) than those from unaffected controls. In two cases, the test results positively identified individuals before the clinical diagnosis of DNS. A clinically normal obligate carrier of the HCMM/DNS gene showed the enhanced G/sub 2/ radiosensitivity. Moreover, in a test on 1 proband, the sensitivity was apparent in peripheral blood lymphoblasts. Enhanced G/sub 2/ chromatid radiosensitivity may be a marker of genetic susceptibility to HCMM/DNS.

  11. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem

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    Majid Malaki

    2012-01-01

    Full Text Available An 8-month-old girl with a history of asphyxia and respiratory distress immediately after birth was hospitalized at her fourth month of age with the diagnosis of kidney infection and it was revealed that she had a unilateral multicystic dysplastic kidney. In recent admission, she presented to emergency room with fever, hyperpnea, and apnea. In appearance, she was a hypotonic girl with broad forehead, hypertelorism, depressed nasal bridge and bitemporal regions, rapid vertical and horizontal nystagmus, and open mouth with salivation. In spite of normal physical growth, she had delayed developmental milestones. Blood gas O 2 saturation dropped after she received phenobarbital. Her urinary and blood tests were normal; however, her cranial magnetic resonance imaging (MRI revealed vermis agenesis and molar tooth sign. These physical and para-clinical findings suggested Joubert syndrome.

  12. Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features

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    Reena Sharma

    2012-01-01

    Full Text Available Epidermal nevus syndrome (ENS is a rare disease, the pathogenesis of which is largely elusive. We, hereby, report an exclusive case of a 20-year-old man with verrucous ENS presented with dark colored papules and plaques along the Blaschko′s lines present over the head and neck area along with fleshy growth in both eyes since birth. Limb length discrepancy and kyphoscoliosis were remarkable. Skin biopsy was compatible with verrucous epidermal nevus while the biopsy of the ocular lesion confirmed complex choristoma. MRI brain revealed calcification in the right temporal lobe. Bilateral arachnoid cyst in the middle cranial fossa, scleral osteoma in the posterior part of the right eyeball, and deformed calvarium were evident on CECT skull and orbit. The present illustration emphasizes the importance of a punctilious work up of the case.

  13. Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome

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    Beluffi, Giampiero [Section of Paediatric Radiology, Department of Radiodiagnosis, IRCCS Policlinico S. Matteo, Piazzale Golgi, 2, 27100, Pavia PV (Italy); Romano, Piero; Matteotti, Chiara; Minniti, Silvio; Ceffa, Franco [Division of Paediatric Surgery, IRCCS Policlinico S. Matteo, Pavia (Italy); Morbini, Patrizia [Department of Pathology, IRCCS Policlinico S. Matteo, Pavia (Italy)

    2004-09-01

    Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable. (orig.)

  14. Phakomatosis Pigmentovascularis Associated With Sturge–Weber Syndrome, Ota Nevus, and Congenital Glaucoma

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    Yang, Yangfan; Guo, Xiujuan; Xu, Jiangang; Ye, Yiming; Liu, Xiaoan; Yu, Minbin

    2015-01-01

    Abstract Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis. We describe 3 cases of PPV combined with bilateral Sturge–Weber syndrome (SWS), Ota nevus, and congenital glaucoma. Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb. Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma

  15. Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma.

    Science.gov (United States)

    Yang, Yangfan; Guo, Xiujuan; Xu, Jiangang; Ye, Yiming; Liu, Xiaoan; Yu, Minbin

    2015-07-01

    Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge-Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb.Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma indications

  16. A case of Becker’ s nevus syndrome%Becker痣综合征1例

    Institute of Scientific and Technical Information of China (English)

    张倩; 朱文元; 骆丹

    2014-01-01

    患者,女,22岁。右肩胛及胸部淡褐色不规则色素沉着斑伴右侧乳房发育不全10余年。胸部X线结果示:脊柱下胸段稍侧弯。诊断:Becker痣综合征。%A 22 -year-old female presented with irregular pigmentation spot on the right shoulder and chest with hypoplasia of the right breast for 10 years. Chest X-ray showed the lower thoracic spine appears scoliosis slightly. The diagnosis of Becker's nevus syndrome was made.

  17. Linear Nevus Sebaceous Syndrome in a Child With Ocular Choristoma and Hemimegalencephaly

    Directory of Open Access Journals (Sweden)

    Özlem Su

    2011-09-01

    Full Text Available Linear nevus sebaceous syndrome (LNSS is a phakomatosis, associated with a variety of developmental abnormalities of ocular, nervous, skeletal, cardiovascular and urogenital systems. In LNSS, choristomas and colobomas are frequently seen signs, but complex choristomas are rare. We describe a case of a 3-year-old boy with a yellow alopecic plaque on his scalp, face and neck as well as a mass in the episcleral region since birth. He also had epileptic seizures since one year old. Histopathological examination of episcleral specimen revealed choristoma. Magnetic resonance imaging of the brain identified hemimegalencephaly, hemicerebral atrophy, and lateral ventricular enlargement.

  18. Papular Epidermal Nevus with “Skyline” Basal Cell Layer Syndrome – Natural Course: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Carole Anouk Zahn

    2017-01-01

    Full Text Available Papular epidermal nevus with “skyline” basal cell layer (PENS is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Genetics suggests gonadal mosaicism as a possible cause for the disease. Another hypothesis is that genetic mutation can occur in a mendelian trait or through a paradominant inheritance.

  19. Endoscopic therapy for esophageal hematoma with blue rubber bleb nevus syndrome

    Institute of Scientific and Technical Information of China (English)

    Mika; Takasumi; Takuto; Hikichi; Tadayuki; Takagi; Masaki; Sato; Rei; Suzuki; Ko; Watanabe; Jun; Nakamura; Mitsuru; Sugimoto; Yuichi; Waragai; Hitomi; Kikuchi; Naoki; Konno; Hiroshi; Watanabe; Katsutoshi; Obara; Hiromasa; Ohira

    2014-01-01

    A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome(BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestinal(GI) tract but her GI tract had never been examined. An upper gastrointestinal endoscopy revealed a large bleeding esophageal hematoma positioned between the thoracic esophagus and the gastric cardia. An endoscopic injection of polidocanol was used to stop the hematoma from bleeding. The hematoma was incised using the injectionneedle to reduce the pressure within it. Finally, argon plasma coagulation(APC) was applied to the edge of the incision. The esophageal hematoma disappeared seven days later. Two months after the endoscopic the rapy, the eso phage alulcerhealed and the hemangioma did not relapse. This rare case of a large esophageal hematoma originating from a hemangioma with BRBNS was treated using a combination of endoscopic therapy with polidocanol injection, incision, and APC.

  20. Endoscopic therapy for esophageal hematoma with blue rubber bleb nevus syndrome.

    Science.gov (United States)

    Takasumi, Mika; Hikichi, Takuto; Takagi, Tadayuki; Sato, Masaki; Suzuki, Rei; Watanabe, Ko; Nakamura, Jun; Sugimoto, Mitsuru; Waragai, Yuichi; Kikuchi, Hitomi; Konno, Naoki; Watanabe, Hiroshi; Obara, Katsutoshi; Ohira, Hiromasa

    2014-12-16

    A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome (BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestinal (GI) tract but her GI tract had never been examined. An upper gastrointestinal endoscopy revealed a large bleeding esophageal hematoma positioned between the thoracic esophagus and the gastric cardia. An endoscopic injection of polidocanol was used to stop the hematoma from bleeding. The hematoma was incised using the injection needle to reduce the pressure within it. Finally, argon plasma coagulation (APC) was applied to the edge of the incision. The esophageal hematoma disappeared seven days later. Two months after the endoscopic therapy, the esophageal ulcer healed and the hemangioma did not relapse. This rare case of a large esophageal hematoma originating from a hemangioma with BRBNS was treated using a combination of endoscopic therapy with polidocanol injection, incision, and APC.

  1. Blue rubber bleb nevus syndrome Síndrome de "nevo em bolha de borracha azul"

    Directory of Open Access Journals (Sweden)

    Daleth Rodrigues

    2000-02-01

    Full Text Available The blue rubber nevus syndrome consists of multiple venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may be involved. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. It is a condition that affects both sexes equally, and its occurrence is rare in the black race. We present a case of this syndrome diagnosed in a 11-year-old patient. He had severe anemia and a venous swelling on the trunk. Similar lesions were found in the stomach, bowel, and on his foot. We emphasize the main clinical aspects: intestine, eyes, nasopharynx, parotids, lungs, liver, spleen, heart, brain, pleura, peritoneum, pericardium, skeletal muscles, bladder, and penis lesions, systemic complications that may occur to these patients which are thrombosis and calcification, as well as consumptive coagulopathy and thrombocytopenia that may occur within the nevi.A síndrome do nevo em bolha de borracha azul "blue rubber bled nevus syndrome" é caracterizada por malformações venosas da pele e trato gastrointestinal, associadas a hemorragia intestinal e anemia ferropriva. Outros órgãos podem estar envolvidos. As causas desta síndrome são desconhecidas e sua apresentação mais comum é na forma de casos esporádicos, mas herança autossômica dominante já foi descrita. É uma condição que afeta igualmente ambos os sexos e sua ocorrência é rara na raça negra. Apresentamos um caso desta síndrome diagnosticada em criança de onze anos de idade. Ela apresenta anemia grave e tumoração venosa do tronco. Lesões semelhantes foram encontradas no estômago, intestino e um dos pés. São enfatizados os aspectos clínicos principais - lesões no intestino, olhos, nasofaringe, parótida, pulmões, fígado, baço, coração, cérebro, pleura, peritônio, pericárdio, músculo esquel

  2. Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)

    Energy Technology Data Exchange (ETDEWEB)

    Neumann, Luitgard M.; Kunze, Juergen [Institute of Human Genetics, Charite, Campus Virchow-Klinikum, Augustenburger Platz 1, Humboldt University, 13353 Berlin (Germany); Scheer, Ianina; Stoever, Brigitte [Pediatric Radiology Strahlenklinik und Poliklinik, Charite, Campus Virchow-Klinikum, Humboldt-University, Berlin (Germany)

    2003-09-01

    The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old boy. Despite his evident brain pathology, the boy lacks neurological symptoms and mental retardation. We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual. (orig.)

  3. Epidermal nevus syndrome associated with polyostotic fibrous dysplasia, CNS lipoma, and aplasia cutis

    National Research Council Canada - National Science Library

    Cabanillas, Miguel; Aneiros, Angel; Monteagudo, Benigno; Santos-García, Diego; Suárez-Amor, Oscar; Ramírez-Santos, Aquilina

    2009-01-01

    ... and urogenital systems. We describe a patient with an extensive epidermal nevus associated with various organ abnormalities, particularly polyostotic fibrous dysplasia, central nervous system lipoma, and aplasia cutis...

  4. Nevus comedonicus: a case series.

    Science.gov (United States)

    Ferrari, Bruno; Taliercio, Vanina; Restrepo, Paola; Luna, Paula; Abad, María Eugenia; Larralde, Margarita

    2015-01-01

    Twelve previously unreported cases of nevus comedonicus are presented. Characteristic closely grouped dilated follicular openings with horny plugs that mimic comedones led to the diagnosis. One patient had nevus comedonicus syndrome and there were cases with atypical locations and unusual complications of this condition. We also highlight clinical associations and therapeutic options. © 2014 Wiley Periodicals, Inc.

  5. Hypophosphatemic rickets associated with giant hairy nevus

    Directory of Open Access Journals (Sweden)

    Sameer Aggarwal

    2013-01-01

    Full Text Available The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature and skin. Rarely, congenital nevomelanocytic nevus also known as hairy nevus has also been reported in association with hypophosphatemic rickets. Studies suggest that phosphaturia, caused by circulating factors, called "phosphatonins" may be secreted by an epidermal or hairy nevus. We report here, a rare case of hypophosphatemic rickets associated with a giant hairy nevus in a 10-year-old boy.

  6. Anemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome.

    Science.gov (United States)

    Bonaventura, Aldo; Liberale, Luca; Hussein El-Dib, Nadia; Montecucco, Fabrizio; Dallegri, Franco

    2016-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by vascular malformations mostly involving skin and gastrointestinal tract. This disease is often associated with sideropenic anemia and occult bleeding. We report the case of chronic severe anemia in an old patient under oral anticoagulation treatment for chronic atrial fibrillation. At admission, the patient also presented fever and increased laboratory parameters of systemic inflammation (ferritin 308 mcg/L, C-reactive protein (CRP) 244 mg/L). A small bluish-colored lesion over the left ear lobe was observed. Fecal occult blood test was negative as well as other signs of active bleeding. Lower gastrointestinal endoscopy revealed internal hemorrhoids and multiple teleangiectasias that were treated with argon plasma coagulation. Videocapsule endoscopy demonstrated multiple bluish nodular lesions in the small intestine. Unexpectedly, chronic severe anemia due to systemic inflammation was diagnosed in an old anticoagulated patient with BRNBS. The patient was treated with blood transfusions, hydration, antibiotic treatment, and long-acting octreotide acetate, without stopping warfarin. Fever and inflammation disappeared without any acute gastrointestinal bleeding and improvement of hemoglobin levels at three-month follow up. This is the oldest patient presenting with chronic anemia, in which BRNBS was also diagnosed. Surprisingly, anemia was mainly caused by systemic inflammation instead of chronic gastrointestinal bleeding. However, we would recommend investigating this disease also in old subjects with mild signs and symptoms.

  7. Therapeutic effects of CO2 laser therapy of linear nevus sebaceous in the course of the Schimmelpenning-Feuerstein-Mims syndrome.

    Science.gov (United States)

    Kiedrowicz, Magdalena; Kacalak-Rzepka, Anna; Królicki, Andrzej; Maleszka, Romuald; Bielecka-Grzela, Stanisława

    2013-10-01

    The Schimmelpenning-Feuerstein-Mims (SFM) syndrome is a rare phakomatosis which comprises a nevus sebaceous of Jadassohn, seizures and developmental delay associated with a wide spectrum of extracutaneous abnormalities including neurological, skeletal, ocular, cardiovascular and urogenital defects. We are presenting a case of an 18-year-old patient with systemic features of the SFM syndrome and an extensive linear nevus sebaceous partially removed with a carbon dioxide (CO2) laser. The treatment options of skin lesions in patients with SFM are discussed.

  8. Identification of molecular alterations in gastrointestinal carcinomas and dysplastic hamartomas in Peutz-Jeghers syndrome

    NARCIS (Netherlands)

    Korsse, Susanne E.; Biermann, Katharina; Offerhaus, G. Johan A.; Wagner, Anja; Dekker, Evelien; Mathus-Vliegen, Elisabeth M. H.; Kuipers, Ernst J.; van Leerdam, Monique E.; van Veelen, Wendy

    2013-01-01

    Peutz-Jeghers syndrome (PJS) is caused by mutations in the LKB1 gene. It is characterized by gastrointestinal polyposis and an increased cancer risk, mainly in the gastrointestinal tract. Mechanisms of PJS-associated carcinogenesis are unclear. We investigated the involvement of candidate genes and

  9. "Multicystic dysplastic kidney (Potter type II syndrome) and agenesis of corpus callosum (ACC) in two consecutive pregnancies: a possible teratogenic effect of electromagnetic exposure in utero".

    Science.gov (United States)

    Tonni, Gabriele; Azzoni, Daniela; Ventura, Alessandro; Ambrosetti, Fabrizio; De Felice, Claudio

    2008-01-01

    Agenesis of the corpus callosum is found in about 5 per 1,000 births and it is due to maldevelopment or, secondary, to destructive lesions. Multicystic dysplastic kidneys is a consequence of either developmental failure of the mesonephric blastema to form nephrons or to early urinary obstruction due to urethral or ureteric atresia and can be found in about 1 per 1,000 live births. A case of fetal multicystic dysplastic kidney disease (Potter type II syndrome) and complete agenesis of the corpus callosum demonstrated by the presence of Probst bundles associated with colpocephaly occurring in the same mother in her two consecutive pregnancies is reported. Data regarding possible teratogenetic effect due to electromagnetic exposure in utero have also been investigated and raised suspicionus as a potential risk factor. In cases of suspected second trimester ultrasound diagnosis of agenesis of corpus callosum (ACC), the following clinical management should be recommended: fetal karyotype; a second level scan with differentiation between underlying conditions such as hydrocephalus and holoprosencephaly; antenatal MRI to enhance the diagnostic accuracy of possible associated neuronal migration (when possible); and direct demonstration of the presence of the Probst bundles to neurohistology.

  10. Fatal Metastatic Cutaneous Squamous Cell Carcinoma Evolving from a Localized Verrucous Epidermal Nevus

    Directory of Open Access Journals (Sweden)

    Hassan Riad

    2013-10-01

    Full Text Available A malignant transformation is known to occur in many nevi such as a sebaceous nevus or a basal cell nevus, but a verrucous epidermal nevus has only rarely been associated with neoplastic changes. Keratoacanthoma, multifocal papillary apocrine adenoma, multiple malignant eccrine poroma, basal cell carcinoma and cutaneous squamous cell carcinoma (CSCC have all been reported to develop from a verrucous epidermal nevus. CSCC has also been reported to arise from other nevoid lesions like a nevus comedonicus, porokeratosis, a sebaceous nevus, an oral sponge nevus and an ichthyosiform nevus with CHILD syndrome. Here we report a case of progressive poorly differentiated CSCC arising from a localized verrucous epidermal nevus, which caused both spinal cord and brain metastasis.

  11. Basal Cell Nevus Syndrome. A Case Presentation Síndrome de Gorlin. Presentación de caso.

    Directory of Open Access Journals (Sweden)

    Orlando Sotolongo Terry

    2007-02-01

    Full Text Available

    Basal Cell Nevus Syndrome is an infrequent entity of very low incidence according to reports in medical literature. It is characterized by considerable groups of alterations which are presented in the organism in a variable way, and with localized lesions in the maxillofacial area. A 61 year-old white male patient who lives in the urban area of Cienfuegos city is presented. He has family references of numerous physical deformities since he was born such as mental retardation, presence of moles since the first decade of his life and augmentation of the mandibular body volume. The diagnosis was keratocysts based on the clinical and radiological examinations as well as histopathological studies.

    El síndrome de Gorlin es una entidad infrecuente, de muy baja incidencia según reportes de la literatura médica. Se caracteriza por un grupo considerable de alteraciones que se presentan de manera variable en el organismo y lesiones localizadas en la región maxilofacial. Se presentó el caso de un paciente de 61 años de edad, masculino, de raza blanca, procedente de la zona urbana de Cienfuegos, con la referencia familiar de numerosas deformidades físicas desde su nacimiento: retraso mental, presencia de lunares a partir de la primera década de la vida y aumento de volumen del cuerpo mandibular. El diagnóstico, apoyado en exámenes clínicos y radiológicos, así como en estudios histopatológicos, fue la presencia de queratoquistes.

  12. Ovarian fibromas in pediatric patients with basal cell nevus (Gorlin) syndrome.

    Science.gov (United States)

    Ball, Allison; Wenning, Joan; Van Eyk, Nancy

    2011-02-01

    Gorlin syndrome is a rare genetic condition consisting of multiple basal cell nevi associated with other entities such as medulloblastoma, skeletal abnormalities, and ovarian fibromas. A 15-year-old girl presented with abdominal discomfort. Magnetic resonance imaging showed multiple bilateral solid adnexal masses, the largest measuring 5.5 cm × 6.1 cm × 5.6 cm. At laparoscopy, 10 ovarian fibromas, ranging from 3 mm to 7 cm in size, were removed from each ovary. Concurrent with her gynecologic course, she was found to have maxillary sinus cysts and multiple basal cell nevi. The patient's history was also significant for a medulloblastoma as an infant. Given this constellation of findings, a diagnosis of Gorlin syndrome was made. The development of ovarian fibromas in the pediatric population is rare. When diagnosed, the possibility of Gorlin syndrome must be considered. Furthermore, females with Gorlin syndrome would benefit from regular gynecologic surveillance. Copyright © 2011 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  13. Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome.

    Science.gov (United States)

    Nelson, Garrett; Iyengar, Sanjana; Shenefelt, Philip

    2016-01-01

    A six-year-old boy with Pallister-Killian syndrome (PKS) presented to the clinic with extensive lesions on his body (Figure 1). The patient was not born with the lesions but began developing them on the head and neck, extending to his lower extremities, at 2 years of age. These lesions had been evaluated by his primary care physician and were previously treated with desonide and ketoconazole cream with little improvement.

  14. Impact Of Mutation-derived Antigens In Immune Recognition Of Hematological Malignancies, Specifically Myeloid Dysplastic Syndromes (MDS)

    DEFF Research Database (Denmark)

    Saini, Sunil Kumar; Dorfmüller, S.; Bjerregaard, Anne-Mette

    2016-01-01

    Mutation-derived neoepitopes have been suggested as a major component for immune recognition of solid tumors with a high mutational load, e.g. Melanoma and Non-Small-Cell Lung Cancer (NSCLC). Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms characterized by increasing...

  15. Nevus of ota associated with nevus of Ito

    Directory of Open Access Journals (Sweden)

    Mukhopadhyay Amiya

    2004-03-01

    Full Text Available Nevus of Ota is a dermal melanocytic nevus seen predominantly in females. It is uncommon in India. Its association with nevus of Ito, another dermal melanocytic nevus, is extremely rare. We report this rare association in a male patient, which is another interesting feature of the present case.

  16. Hybrid SPECT-CT with 99mTc-labeled red blood cell in a case of blue rubber bleb nevus syndrome: added value over planar scintigraphy.

    Science.gov (United States)

    Das, Kalpa Jyoti; Sharma, Punit; Naswa, Niraj; Soundararajan, Ramya; Kumar, Rakesh; Bal, Chandrasekhar; Malhotra, Arun

    2013-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare clinical entity characterized by multiple venous malformations (hemangiomas) of the skin and gastrointestinal tract. These hemangiomas usually cause episodes of occult gastrointestinal bleeding leading to iron deficiency anemia, and also carry a significant potential for serious hemorrhage. The 99mechnetium (99mTc)-labeled red blood cell scintigraphy has traditionally been utilized in the localization of occult bleeding sites in patients with suspected vascular malformations, angiodysplasia, and Meckel’s diverticulum. We report the incremental value of 99mTc-labeled red blood cell hybrid single-photon emission computed tomography-computed tomography (SPECT-CT) over planar scintigraphy alone in a 12-year-old female patient with BRBNS.

  17. Atypical cellular blue nevus or malignant blue nevus?*

    Science.gov (United States)

    Daltro, Luise Ribeiro; Yaegashi, Lygia Bertalha; Freitas, Rodrigo Abdalah; Fantini, Bruno de Carvalho; Souza, Cacilda da Silva

    2017-01-01

    Blue nevus is a benign melanocytic lesion whose most frequent variants are dendritic (common) blue nevus and cellular blue nevus. Atypical cellular blue nevus presents an intermediate histopathology between the typical and a rare variant of malignant blue nevus/melanoma arising in a cellular blue nevus. An 8-year-old child presented a pigmented lesion in the buttock since birth, but with progressive growth in the last two years. After surgical excision, histopathological examination revealed atypical cellular blue nevus. Presence of mitoses, ulceration, infiltration, cytological atypia or necrosis may occur in atypical cellular blue nevus, making it difficult to differentiate it from melanoma. The growth of blue nevus is unusual and considered of high-risk for malignancy, being an indicator for complete resection and periodic follow-up of these patients. PMID:28225968

  18. Nevomelanocytic nevus with leukotrichia

    Directory of Open Access Journals (Sweden)

    Kaur C

    2003-03-01

    Full Text Available Nevomelanocytic nevi exhibit clinical variations in morphology, location, texture and number related to age, race and geographical distribution. Development of age related greying of hair over pigmented melanocytic nevus is being discussed.

  19. Nevus Outreach, Inc.

    Science.gov (United States)

    ... is unique and precious. ( more ) Looking for Other Types of Nevi? Full Site Navigation: Home About CMN What is a Large CMN? FAQs about CMN Medical Challenges Psychological Challenges CMN Glossary Treatment Options Nevus Removal Science ...

  20. Nevus lipomatosus cutaneous superficialis*

    Science.gov (United States)

    Carvalho, Gustavo de Sá Menezes; Cavalcanti, Silvana Maria de Morais; Herênio, Alzinira Souza; Teixeira, Márcia Almeida Galvão; de Alencar, Eliane Ruth Barbosa; Gonçalves, Sergio Paulo Mendes

    2016-01-01

    We report a case of nevus lipomatosus cutaneous superficialis of Hoffman-Zurhelle (NCLS), with multiple lesions, in a ten-year-old child. The NLCS is considered rare. The classical clinical presentation is characterized by multiple skin-colored or yellowish papules and nodules, which can have a linear distribution. Histologically, it is characterized by the presence of mature ectopic adipocytes in the dermis. The main therapeutic option is surgical excision. The classical Nevus lipomatosus cutaneous superficialis is reported in this case.

  1. AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model that Mimics Some Features of Basal Cell Nevus Syndrome.

    Science.gov (United States)

    Kim, Arianna L; Back, Jung Ho; Zhu, Yucui; Tang, Xiuwei; Yardley, Nathan P; Kim, Katherine J; Athar, Mohammad; Bickers, David R

    2016-10-01

    Patients with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, develop numerous basal cell carcinomas (BCC) due to germline mutations in the tumor suppressor PTCH1 and aberrant activation of Hedgehog (Hh) signaling. Therapies targeted at components of the Hh pathway, including the smoothened (SMO) inhibitor vismodegib, can ablate these tumors clinically, but tumors recur upon drug discontinuation. Using SKH1-Ptch1(+/-) as a model that closely mimics the spontaneous and accelerated growth pattern of BCCs in patients with BCNS, we show that AKT1, a serine/threonine protein kinase, is intrinsically activated in keratinocytes derived from the skin of newborn Ptch1(+/-) mice in the absence of carcinogenic stimuli. Introducing Akt1 haplodeficiency in Ptch1(+/-) mice (Akt1(+/-) Ptch1(+/-)) significantly abrogated BCC growth. Similarly, pharmacological inhibition of AKT with perifosine, an alkyl phospholipid AKT inhibitor, diminished the growth of spontaneous and UV-induced BCCs. Our data demonstrate an obligatory role for AKT1 in BCC growth, and targeting AKT may help reduce BCC tumor burden in BCNS patients. Cancer Prev Res; 9(10); 794-802. ©2016 AACR.

  2. Giant Blue Nevus: A New Association to Nevus of Ota.

    Science.gov (United States)

    Medel, Ramón; Vasquez, LuzMaria; Fernandez, Javier; Huguet, Pere; Pamias, Jordi

    2015-01-01

    Nevus of Ota, also known as oculodermal melanocytosis, is a congenital pigmentary condition that can affect structures in the distribution of the ophthalmic and maxillary divisions of the trigeminal cranial nerve. Malignant transformation, although rare, may occur within nevus of Ota and result in uveal, cutaneous, orbital or even dural melanoma. We present a new association of Nevus of Ota complicated with a giant orbital Blue Nevus in a young white male and the management of this tumor.

  3. The additive influence of nevus flammeus and the nevus of Ota on congenital glaucoma

    Directory of Open Access Journals (Sweden)

    Sihota Ramanjit

    1991-01-01

    Full Text Available Nevus flammeus and nevus of Ota are commonly encountered dermatological conditions, but both individually, are only occasionally associated with glaucoma. The occurrence of isolated nevus flammeus along with nevus of Ota in the same patient is also extremely rare. We are presenting two unusual cases, both having a nevus of Ota, together with nevus flammeus and severe congenital glaucoma.

  4. Verrucous epidermal nevus

    OpenAIRE

    Kim, Randie; Marmon, Shoshana; Kaplan, Jennifer; Kamino, Hideko; Pomeranz, Miriam Keltz

    2013-01-01

    A 64-year-old man presented with a three-year history of an enlarging, pruritic, linear, verrucous plaque on his left lower extremity. Histopathologic examination was consistent with a verrucous epidermal nevus, which is a benign epidermal hamartoma, most commonly observed in the pediatric population. Verrucous epidermal nevi are often refractory to treatment and have high rates of recurrences, causing them to be therapeutic challenges. We review the treatment modalities reported to be effect...

  5. Bilateral familial nevus of Ota.

    Science.gov (United States)

    Goyal, Sunali; Uwaydat, Sami H; Phillips, Paul H; Schaefer, G Bradley

    2014-12-01

    Nevus of Ota is a benign congenital melanocytic lesion found most commonly in people of Asian ancestry. It is associated with an increased risk of glaucoma and uveal melanomas. Most cases are sporadic and unilateral. We present the first reported case of a brother and sister with familial, bilateral nevus of Ota.

  6. KLIPPEL TRENAUNAY SYNDROME : A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sonali

    2015-04-01

    Full Text Available INTRODUCTION: Klippel Trenaunay Syndrome is a rare congenital disorder, but it is the most common condition involving combined vascular malformation. KTS was first described by two French Physicians, Klippel and Trenaunay in 1900. (1 Incidence of KTS reported is approximately 2 to 5 cases per 100, 000 live births. ( 2,3 KTS generally affects a single extremity, although cases of multiple affected limbs have been reported. The leg is most common site followed by the arms, the trunk, and rarely the head and neck. The original description of KTS included limb hypertrophy, varicose veins and vascular (Port wine nevus, which were characterised as a clinical triad. Hemangiomatosis is the most frequent finding in these patients and is usually present at birth . ( 4 KTS is also known as angio - osteohypertrophy syndrome, congenital dysplastic angiopathy or klippel trenaunay weber syndrome.

  7. Deep penetrating nevus: A distinct variant of melanocytic nevus

    Directory of Open Access Journals (Sweden)

    Aparna Gupta

    2011-01-01

    Full Text Available Deep penetrating nevus (DPN is a variant of melanocytic nevus which goes unrecognized due to its relative rarity and may be misinterpreted as malignant melanoma. It commonly presents in young adults as a dark pigmented lesion on the face, neck, or shoulder. A 60-year-old lady presented with a mole over the left arm of 8 years duration. A biopsy of the lesion was performed under the clinical impression of a compound nevus with suspicion of malignancy. Based on the histologic features, a diagnosis of DPN was put forward.

  8. 线样脂腺综合征患者的眼部多样性损害%Ocular diversity of damage in patients with linear nevus sebaceous syndrome

    Institute of Scientific and Technical Information of China (English)

    戴玲; 颜建华

    2012-01-01

    目的 报告线样脂腺综合征患者的多种眼部表现.方法 回顾性分析首诊于眼科的6例线样脂腺综合征患者的临床、病理及影像学检查结果.结果 6例(6只眼)线样脂腺综合征患者中,男3例,女3例;年龄4个月至12岁,平均4.4岁;右眼2例,左眼4例.6例中只有1例有癫痫发作和智力迟钝;所有6例患者均有患眼同例的头顶、面部和颈部的脂腺痣,且6例患者头颅CT检查均显示与患眼同侧或双侧的颅脑组织发育不良、萎缩或积液.眼部检查全部患者均有上睑肿物和角结膜皮样瘤,眼部CT均有眼眶壁不同程度钙化.其他眼部改变包括变异大泪腺组织,上睑外翻,眼睑闭合不全,上睑下垂,小睑裂,小眼球,下泪小点缺如,斜视,结膜鳞状上皮增生干燥,角膜混浊,视盘苍白,脉络膜血管瘤,视神经发育不良等.结论 线样脂腺综合征眼部异常多种多样,以上睑肿物和角结膜皮样瘤最多见,眼部CT均有眼眶壁不同程度钙化.%Objective To report a variety of ocular manifestations in patients with linear nevus sebaceous syndrome.Methods The clinical,pathological and imaging findings were retrospectively reviewed in 6 patients with linear nevus sebaceous syndrome who were seen by the corresponding author in Zhongshan Ophthalmic Center,Sun Yat-sen University,between Feb.2006 and Dec.2009.Results Among the 6 cases(6 eyes),3 were male and 3 were female.The patients'age ranged from 4 months and 12 years old,with a mean of 4.4 years.Two were the right eye and 4 the left eye.Only one of the six cases suffered from seizures and mental retardation.All patients had the sebaceous nevus located at the scalp,the face and neck on the same side of the involved eye.The computed tomography(CT)scan of the brain showed unilateral or bilateral brain dysplasia and atrophy in all patients.All 6 patients had upper eyelid tumor,corneal/conjunctival dermoid,and a different degree of calcification of the eyewall on CT

  9. 蓝色橡皮大疱痣综合征一例报告%Blue rubber bleb nevus syndrome: a rare cause of gastroenterol bleeding

    Institute of Scientific and Technical Information of China (English)

    缪惠标; 陶力; 田虹

    2013-01-01

    蓝色橡皮大疱痣综合征(BRBNS)是一种罕见的原因尚不明确的疾病,特点为全身多发静脉畸形病灶.该文报道1例34岁女性,发现全身皮肤多发蓝紫色肿物20余年,反复黑便及鲜血便2年,并因严重贫血需长期输血治疗.全腹CT平扫可见肝脏、脾脏、肾脏、子宫、盆腔内及臀大肌内大量结节状病灶,血管造影显示病灶为静脉畸形.胃镜、肠镜、胶囊内镜显示全消化道共约150余处大小不一静脉畸形病灶并多发性出血.治疗包括半流和精细软食,补铁,沙利度胺(反应停)维持治疗,患者血红蛋白由56 g/L升至102 g/L并维持于该水平,未再出现显性出血,随诊2年病情稳定,后死于肾盂肾炎败血症.全身如此大量的病灶特别是大量胃肠道病灶在已有的BRBNS文献报道中尚属罕见,且对于多病灶出血,可试用沙利度胺以控制病情.%Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple venous malformations,with unknowed etiology.Herein,we report a thirty-four years old woman with multiple blue cutaneous masses for over 20 years,who had suffered melena and bloody stool for two years.She had severe anemia and had to receive blood transfusion for a long term.CT scan of abdomen showed a large number of nodular lesions in liver,kidney,uterus,pelvic cavity and gluteus maximus.Angiography confirmed those lesion as venous malformations.Gastroscopy,colonoscopy,capsule endoscopy show nearly over 150 venous malformations throughout gastrointestinal tract and some of them were bleeding.Therapy included semi-flow and soft diet,iron supplement,and oral thalidomide.HGB of the patient increased from 56 g/L to 102 g/L.Dominant gastrointestinal bleeding disappeared and her condition remained well during two years of follow-up.Finally,she died of pyelonephritis and septicemia.It is extremely rare with so many lesions in gastrointestinal tract among the cases with BRBNS ever reported

  10. Familial nevus of ota

    Directory of Open Access Journals (Sweden)

    Kumari Rashmi

    2006-01-01

    Full Text Available A 23-year-old pregnant woman with an asymptomatic unilateral, bluish, pigmented lesion on her left periocular skin was referred from the obstetrics department for dermatological evaluation. Dermatologic examination revealed unilateral, blue-gray, poorly defined macule on the periorbital skin of the left side of the face mainly over the malar prominence and left temple not crossing the midline, conforming to the maxillary division of trigeminal nerve distribution. The pigmentation was speckled with interspersed dark-brownish elements. Her father, a 47 - year- old man had a similar pigmentation at the same site over the malar prominence of face not extending onto the forehead. Here we report two cases of nevus of Ota occurring in 2 generations of the same family for its rarity.

  11. Late onset Ito's nevus

    Science.gov (United States)

    Resende, Cristina; Araújo, Catarina; Vieira, Ana Paula; Brito, Celeste

    2013-01-01

    Dermal melanocytoses include a variety of congenital and acquired melanocytic lesions characterised by the presence of multiple spindle-shaped dendritic melanocytes in the dermis. These lesions are commonly found in the skin of Asians, but they can also appear in Caucasians. The Mongolian spot, nevi of Ota and Ito are the most common morphological forms. We report a case of a 24-year-old Caucasian woman presented with a 10-months history of progressive darkening of the right side of her upper back. Cutaneous examination revealed a macular blue-grey hyperpigmentation of the right side of her upper back. Biopsy specimen from the macule showed multiple darkly pigmented, spindle-shaped dendritic melanocytes in the superficial dermis, interstitially arranged between collagen bundles. The diagnosis of nevus of Ito was established. Our patient is maintaining vigilance in dermatology consultation. PMID:23729678

  12. Late onset Ito's nevus.

    Science.gov (United States)

    Resende, Cristina; Araújo, Catarina; Vieira, Ana Paula; Brito, Celeste

    2013-05-30

    Dermal melanocytoses include a variety of congenital and acquired melanocytic lesions characterised by the presence of multiple spindle-shaped dendritic melanocytes in the dermis. These lesions are commonly found in the skin of Asians, but they can also appear in Caucasians. The Mongolian spot, nevi of Ota and Ito are the most common morphological forms. We report a case of a 24-year-old Caucasian woman presented with a 10-months history of progressive darkening of the right side of her upper back. Cutaneous examination revealed a macular blue-grey hyperpigmentation of the right side of her upper back. Biopsy specimen from the macule showed multiple darkly pigmented, spindle-shaped dendritic melanocytes in the superficial dermis, interstitially arranged between collagen bundles. The diagnosis of nevus of Ito was established. Our patient is maintaining vigilance in dermatology consultation.

  13. Basal cell carcinoma arising on a verrucous epidermal nevus: a case report.

    Science.gov (United States)

    Viana, Analia; Aguinaga, Felipe; Marinho, Flauberto; Rodrigues, Rosangela; Cuzzi, Tullia; Ramos-E-Silva, Marcia

    2015-01-01

    We report a case of basal cell carcinoma that appeared from an epidermal verrucous nevus in a 61-year-old patient. The onset of basal cell carcinoma in sebaceous nevi, basal cell nevi and dysplastic nevi is relatively common, but it is rarely associated with epidermal verrucous nevi. There is no consensus on whether the two lesions have a common cellular origin or whether they merely represent a collision of two distinct tumors. Since this association - as with other malignant tumors - is rare, there is no need for prophylactic removal of epidermal verrucous nevi.

  14. Eccrine Poroma Arising within Nevus Sebaceous

    Directory of Open Access Journals (Sweden)

    Natnicha Girdwichai

    2016-04-01

    Full Text Available Nevus sebaceous is a congenital, benign hamartomatous lesion, characterized by a yellowish to skin-colored, hairless, verrucous plaque on the head and neck region. In later life, a secondary tumor, either benign or malignant, can develop within nevus sebaceous. Eccrine poroma developing on nevus sebaceous is extremely rare. There are few case reports of eccrine poroma developing within nevus sebaceous. We report a case of a 30-year-old female who presented with a congenital, hairless, verrucous, yellowish lesion on the scalp and an erythematous nodule arising within the yellowish lesion for 8 months. Her clinical presentation and histopathological findings were compatible with nevus sebaceous and eccrine poroma.

  15. Nevus blanco esponjoso familiar

    Directory of Open Access Journals (Sweden)

    Mônica Andrade Lotufo

    2010-06-01

    Full Text Available El nevus blanco esponjoso (NBE es una rara condición autosómica dominante, caracterizada por placas blancas bilaterales en la mucosa, de aspecto esponjoso, blandas a la palpación y que pueden escamarse. Los tratamientos son paliativos; y el uso de antibióticos, en especial la tetraciclina, ha demostrando buenos resultados en su control. Este trabajo presenta tres casos clínicos de una familia afectada por NBE, donde se discuten los posibles diagnósticos diferenciales y conductas terapéuticas indicadas. Un paciente masculino de 52 años de edad acudió a la clínica aquejado de lesiones blancas bilaterales. El paciente notó las lesiones 30 años antes, sin lograr un diagnóstico final de las mismas. Después de la anamnesis y del examen clínico fue realizada una biopsia incisional. La reunión de los datos clínicos e histopatológicos llevó al diagnóstico de NBE. Se le solicitó al paciente que indagase entre sus familiares con respecto a lesiones semejantes. Se detectó que el hijo de 19 años y la hija de 25 eran portadores de placas blancas en la mucosa yugal. Como no había afectación estética, se optó por no intervenir en las lesiones. El nevus blanco esponjoso es una lesión genética que debe ser diferenciada de otras patologías localizadas y sistémicas importantes, que tienen repercusiones serias para el individuo. Como no hay un tratamiento curativo para el NBE, el papel del cirujano dentista es diagnosticar esta lesión, aclarar al paciente sobre la naturaleza benigna y autolimitante del NBE y si fuera necesario desde el punto de vista estético, aplicar diferentes modalidades terapéuticas.

  16. Nevus of Ota in children.

    Science.gov (United States)

    Sinha, Smeeta; Cohen, Philip J; Schwartz, Robert A

    2008-07-01

    Nevus of Ota, synonymously termed oculodermal melanosis, is an uncommon dermal melanosis most commonly seen at birth in children of Japanese descent, though it can affect individuals of any age or ethnicity. The disease tends to persist and extend locally, becoming increasingly prominent with age, puberty, and postmenopausal state. Treatment should begin early after diagnosis using multiple sessions of laser photothermolysis to avoid darkening and extension of the lesion. Important associated disorders include ipsilateral glaucoma; intracranial melanocytosis; and rarely cutaneous, ocular, or intracranial melanoma. Recommendations are discussed for managing nevus of Ota in children.

  17. Multicystic Dysplastic Kidney: Four-Year Evaluation

    Directory of Open Access Journals (Sweden)

    Berna AYTAÇ

    2011-09-01

    Full Text Available Objective: Multicystic dysplastic kidney is a relatively common developmental abnormality in infants and children. Additional abnormalities like vesicoureteral reflux, ureteropelvic junction obstruction, and ureterovesical junction obstruction may accompany multicystic dysplastic kidney. In this article, we reviewed the pathogenesis, diagnosis, associated urinary tract anomalies and results of management of multicystic dysplastic kidney in the light of the literature.Material and Method: We retrospectively assessed 20 children with unilateral multicystic dysplastic kidney between January 2005 and December 2009. Mean duration of follow-up was 35 ± 8.7 months. All children with multicystic dysplastic kidney underwent nephrectomy. Patient characteristics, the pathology findings, associated urinary tract anomalies and results of management were reviewed.Results: Abdominal ultrasound, voiding cystourethrography and renal scintigraphy revealed vesicoureteral reflux in 3 (15% children, ureteropelvic junction obstruction in 3 (15% children, and a duplex system in the contralateral kidney in 1 (5% child. Blood pressure values, serum urea, creatinine and urinalysis were within normal range in all children during follow-up.Conclusion: A conservative approach to children with multicystic dysplastic kidney has been advocated, but surgical removal is also another management modality on the basis of risk of hypertension, mass effect, potential for malignant change, and cost of repeated ultrasound examination.

  18. Pruritic acquired nevus of Ota.

    Science.gov (United States)

    Quenan, S; Strueven, V; Saxer, N; Laffitte, E; Kaya, G; Krischer, J; Hafezi, F; Le Gal, F-A

    2013-01-01

    Nevus of Ota is a unilateral, asymptomatic cutaneous and mucosal hyperpigmentation of the face that is congenital or may appear during childhood. We present a case of symptomatic acquired nevus of Ota in an adult, associated with intense pruritus, not described in the literature so far. A 32-year-old woman presented with brownish mottled macules which appeared on her face progressively over 8 days, following the distribution of the first and second divisions of the left trigeminal nerve and partially covering the iris and sclera of the left eye. She reported an intense pruritus in this area. We performed a biopsy on the left forehead, which confirmed the diagnosis of nevus of Ota. Specific stains and immunohistochemistry revealed increased numbers of mast cells. Ophthalmological tests showed acute acquired melanocytosis of the left iris and sclera. The origin of the nevus is still unclear. Several hypotheses suggest a reactivation of melanocytes during their migration from the neural crest. The pruritus reported in our patient may be explained by the increased quantity of mast cells observed in the lesion and/or neuronal stimulation of the ophthalmic and maxillary divisions of the fifth cranial nerve.

  19. Eccrine nevus with epidermal changes.

    Science.gov (United States)

    Imai, S; Nitto, H

    1983-01-01

    A 22-year-old woman with papular lesions on the extensor aspect of the left leg, present since childhood, with linear distribution is described. Histology of the lesion showed malformed eccrine sweat apparatus with ductal hyperplasia, in addition to the serrated configuration of the epidermis. It appears that the lesions of the eccrine apparatus in this case represent a nevus.

  20. Synchronous melanomas arising within nevus spilus*

    Science.gov (United States)

    de Brito, Maria Helena Toda Sanches; Dionísio, Cecília Silva Nunes de Moura; Fernandes, Cândida Margarida Branco Martins; Ferreira, Joana Cintia Monteiro; Rosa, Maria Joaninha Madalena de Palma Mendonça da Costa; Garcia, Maria Manuela Antunes Pecegueiro da Silva

    2017-01-01

    Nevus spilus is a melanocytic cutaneous lesion consisting of a light brown background macule with numerous superimposed darker maculopapular speckles. Melanoma arising from a nevus spilus is rare, with less than 40 cases reported to date. The absolute risk for malignant transformation is not well defined, lacking a standardized management approach. We report a new case of melanoma arising from nevus spilus, with the additional peculiarity of multifocality. We offer our recommendations for the management of the condition. PMID:28225967

  1. Het basocellulaire nevus syndroom

    NARCIS (Netherlands)

    Rittersma, Jan

    1972-01-01

    The B.N.S. shows certain similarities to other systemic diseases. these diseases are often referred to as "familial degenerative diseases" ln chapter 8 the common characteristic of theses syndromes are reviewed. The B.N.S. is often characterized by the presence of hamartomas and the tendency toward

  2. Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome?

    Science.gov (United States)

    Gamayunov, Boris N; Korotkiy, Nikolay G; Baranova, Elena E

    2016-06-01

    Cutaneous symptoms in some patients with clinical picture of Schimmelpenning-Feuerstein-Mims syndrome can include a speckled lentiginous nevus, also known as nevus spilus. Recent investigations show that somatic heterozygous HRAS mutations are present in the sebaceous and speckled lentiginous nevus tissues of patients with combination of two nevi.

  3. Rabson-mendenhall syndrome

    National Research Council Canada - National Science Library

    Hassan, Iffat; Altaf, Hinah; Yaseen, Atiya

    2014-01-01

    Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial...

  4. Agminated blue nevus - Case report*

    Science.gov (United States)

    Lisboa, Alice Paixão; Silvestre, Keline Jácome; Pedreira, Renata Leite; Alves, Natália Ribeiro de Magalhães; Obadia, Daniel Lago; Azulay-Abulafia, Luna

    2016-01-01

    Blue nevi are benign melanocytic lesions located in the deeper reticular dermis, consequence of failure of melanocytic migration into the dermal-epidermal junction from the neural crest. Lesions are usually asymptomatic and solitary, but may present in a multiple or agminated (grouped) pattern. The agminated subtype is formed when bluish-pigmented lesions cluster together in a well-defined area. Lesions can be flat or raised. We report the case of a patient who presented multiple bluish macules (1-3 mm in diameter) grouped on the left upper back. Dermoscopy and anatomic pathological examination were consistent with blue nevus. PMID:27828645

  5. Nevus of Ota: clinical-ophthalmological findings

    OpenAIRE

    Sebastião Cronemberger; Nassim Calixto; Henrique Leite Freitas

    2011-01-01

    OBJECTIVE: To analyze the clinical and ophthalmological findings of patients with nevus of Ota. METHODS: Retrospective analysis of patients' charts with nevus of Ota. We registered the demographic data, location of the nevus and date of appearance, family history of similar spots, biomicroscopic, gonioscopic, tonometric, ophthalmoscopic and perimetric findings. RESULTS: We included 14 patients, six (43.0%) men and eight (57.0%) women, with a mean age of 21.7±17.5 years. Ten (71%) were mulatt...

  6. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis.

    Science.gov (United States)

    Ma, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun

    2015-01-01

    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis.

  7. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis*

    Science.gov (United States)

    MA, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun

    2015-01-01

    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis. PMID:26312661

  8. Squamous cell carcinoma arising in a multiple verrucous epidermal nevus*

    Science.gov (United States)

    Yarak, Samira; Machado, Taila Yuri Siqueira; Ogawa, Marilia Marufuji; Almeida, Mirian Luzia da Silva; Enokihara, Milvia Maria Simões e Silva; Porro, Adriana Maria

    2016-01-01

    Verrucous epidermal nevi are hamartomatous lesions of the epidermis that, unlike other epidermal nevi (such as sebaceous nevus or nevus comedonicus), are rarely associated with malignant neoplasms. The majority of squamous cell carcinoma develop in linear or multiple epidermal nevus and rarely in solitary epidermal nevus. In general, the prognosis is favorable. We report a case of well-differentiated invasive squamous cell carcinoma arising from a multiple verrucous epidermal nevus. Although there is no consensus on prophylactic removal of epidermal nevus, its removal and biopsy should be considered if changes occur. PMID:28300931

  9. Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2017-01-01

    Full Text Available We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation.

  10. Divided or kissing nevus of the penis.

    Science.gov (United States)

    Hardin, Carolyn A; Tieu, Kathy D

    2013-10-16

    The divided or kissing nevus is an unusual congenital melanocytic nevus. By definition, these nevi appear on skin that separates during embryological development. These lesions have been reported on the eyelids, fingers, and rarely the penis. We describe an 18 year old uncircumcised male who presented with an asymptomatic darkly pigmented patch on the glans penis. He reported that the lesion had appeared recently and was enlarging. Physical examination revealed a second symmetric lesion on the adjacent foreskin. Punch biopsy of the lesion on the glans penis showed abundant intradermal melanocytes devoid of mitoses and atypia, consistent with an intradermal melanocytic nevus. Based on the benign histologic nature and clinical exam, the lesion was diagnosed as a divided or kissing nevus of the penis. Proposed treatments include excision and grafting as well as Nd:YAG laser therapy. However, these patients may be safely monitored with regular follow-up skin examinations because there is minimal risk of malignant transformation.

  11. Nevus blanco esponjoso familiar Family nevus spongiosus albus

    Directory of Open Access Journals (Sweden)

    Mônica Andrade Lotufo

    2010-06-01

    Full Text Available El nevus blanco esponjoso (NBE es una rara condición autosómica dominante, caracterizada por placas blancas bilaterales en la mucosa, de aspecto esponjoso, blandas a la palpación y que pueden escamarse. Los tratamientos son paliativos; y el uso de antibióticos, en especial la tetraciclina, ha demostrando buenos resultados en su control. Este trabajo presenta tres casos clínicos de una familia afectada por NBE, donde se discuten los posibles diagnósticos diferenciales y conductas terapéuticas indicadas. Un paciente masculino de 52 años de edad acudió a la clínica aquejado de lesiones blancas bilaterales. El paciente notó las lesiones 30 años antes, sin lograr un diagnóstico final de las mismas. Después de la anamnesis y del examen clínico fue realizada una biopsia incisional. La reunión de los datos clínicos e histopatológicos llevó al diagnóstico de NBE. Se le solicitó al paciente que indagase entre sus familiares con respecto a lesiones semejantes. Se detectó que el hijo de 19 años y la hija de 25 eran portadores de placas blancas en la mucosa yugal. Como no había afectación estética, se optó por no intervenir en las lesiones. El nevus blanco esponjoso es una lesión genética que debe ser diferenciada de otras patologías localizadas y sistémicas importantes, que tienen repercusiones serias para el individuo. Como no hay un tratamiento curativo para el NBE, el papel del cirujano dentista es diagnosticar esta lesión, aclarar al paciente sobre la naturaleza benigna y autolimitante del NBE y si fuera necesario desde el punto de vista estético, aplicar diferentes modalidades terapéuticas.The aim of present paper is to introduce three clinical cases from a family affected from nevus spongiosus albus (NSA and also to discuss the possible differential diagnoses as well as the therapeutical behaviors to be adopted. Clinical case: A man aged 52 seen in our clinic due to bilateral white lesions noted 30 years ago without

  12. Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

    Science.gov (United States)

    Sprague, Jessica; Landau, Joseph W

    2016-09-01

    Birt-Hogg-Dubé syndrome is an uncommon genodermatosis characterized by hair follicle hamartomas and an increased risk of pneumothorax and renal cell carcinoma. Recognition of cutaneous manifestations is essential because it allows for early screening and management of systemic complications. We present the case of an 8-year-old boy with a recently described cystic and comedonal variant of the classic fibrofolliculoma, which had been present since birth.

  13. Lasers and nevus of Ota: a comprehensive review.

    Science.gov (United States)

    Shah, Vidhi V; Bray, Fleta N; Aldahan, Adam S; Mlacker, Stephanie; Nouri, Keyvan

    2016-01-01

    Nevus of Ota is a benign dermal melanocytic nevus that typically affects Asian children and women. The nevus presents as unilateral blue-gray hyperpigmented macules and patches scattered along the first and second divisions of the trigeminal nerve. Individuals with nevus of Ota experience emotional and psychosocial distress related to cosmetic disfigurement and often look for treatment options. Unfortunately, even when treated early, lesions of nevus of Ota are still difficult to treat. The use of lasers for the treatment of nevus of Ota lesions has become helpful in the management of dermal nevi. Currently, Q-switched (QS) lasers have been the most studied and demonstrated positive results for treatment of nevus of Ota. The purpose of this review article is to summarize the clinical efficacy and side effects associated with QS lasers and the treatment of nevus of Ota lesions.

  14. Psychological Challenges Associated with Congenital Melanocytic Nevus (CMN)

    Science.gov (United States)

    ... nevus may suffer from anxiety, depression or a self-esteem deficiency. Children with large nevi may act out ... News Archives Shedding Some Light on Neurocutaneous Melanocytosis Parenting a Child with a Giant Nevus Pairing up ...

  15. Kissing nevus of the penis.

    Science.gov (United States)

    Yun, Sook Jung; Wi, Hyun Seung; Lee, Jee-Bum; Kim, Seong-Jin; Won, Young Ho; Lee, Seung-Chul

    2011-11-01

    Kissing or divided nevi are similar in shape to congenital melanocytic nevi located on an adjacent part of the body that are separated during embryogenesis. Kissing nevi of the upper and lower eyelids have been reported infrequently since the first report in 1908. Kissing nevi of the penis are very rare, with only 12 cases being reported until now, and this is the first case report in the Korean dermatological literature. A previously healthy 27-year-old man presented with asymptomatic black colored patches, which were detected 10 years ago, on the glans penis and the prepuce with growth in size. We report here a case of kissing nevus of the penis, which showed an obvious mirror-image symmetry relative to the coronal sulcus.

  16. A circum-corneal conjunctival nevus in a child

    DEFF Research Database (Denmark)

    Svahn, T.F.; Heegaard, Steffen; Prause, Jan Ulrik

    2012-01-01

    An amelanotic, circum-corneal nevus in a 2-year-old child is described. The nevus presented at birth as a red spot in the nasal conjunctiva that subsequently enlarged to completely encircle the cornea. The tumour was partially removed three times, but at the age of 6 years, the nevus still covers...

  17. Nevus

    Science.gov (United States)

    ... Uveitis Focus On Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center ... Uveitis Focus On Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center ...

  18. Malignant Melanoma in Association With a Thymic Nevus in a Patient With a Giant Congenital Nevus.

    Science.gov (United States)

    Shvartser-Beryozkin, Yulia; Yakobson, Alexander; Benharroch, Daniel; Saute, Milton; Feinmesser, Meora

    2017-07-01

    Nevi and melanocytic proliferations are known to appear in multiple extracutaneous sites, including lymph nodes and meninges. We report a case of an anterior mediastinal mass in a patient with a giant congenital nevus and neurofibromatosis type I. Histologically, the tumor was found to be a malignant melanoma in the thymus arising in association with a nevus that involved most of the thymic tissue. There was no sign of cutaneous melanoma on skin examination. We suggest that the tumor originated from the benign nevus in the thymus, a rare extracutaneous location for nevi and malignant melanoma.

  19. Kissing nevus of the penis. Report of two cases and review of the literature.

    Science.gov (United States)

    Wang, Songting; Zhou, Mingshu; Qiao, Jianjun

    2014-01-01

    Kissing nevus is a curious type of nevus that was first described on the eyelids and rarely described on the penis. We report two cases of kissing nevus of the penis and review previously reported cases. The lesions of the kissing nevus of the penis showed characteristic mirror-image symmetry relative to the coronal sulcus. On histopathology, the lesion showed a compound nevus.

  20. Significance of adrenergic receptors for the development of nevus flammeus and nevus anemicus

    Energy Technology Data Exchange (ETDEWEB)

    Raff, M. (Vienna Univ. (Austria). 2. Hautklinik)

    1981-01-01

    Examination of patients with nevus flammeus or nevus anemicus showed disturbed sensibility in the area of the nevus in the majority of cases. Histologically and with special technique of histochemistry and fluorescence microscopy there was no evidence for neurogenic lesions. However, signs of vegetative disfunction were present: hyperhidrosis and absent reactivity of vasculature in the nevus area to vasoconstrictive and vasodilatatory stimuli. Based on these findings a disturbed regulation of vascular intramural adrenergic receptors seemed possible and really could be demonstrated by means of autoradiography. In both types of nevi only one of the adrenergic receptors could be marked with specific antagonists. Therefore, the persistent vascular dilatation and constriction can be accounted for by the absence of one of these receptors. This abnormal distribution of receptors could be due to a developmental defect influenced by the ''nerve growth factor''.

  1. Acquired, bilateral nevus of Ota-like macules (ABNOM) associated with Ota's nevus: case report.

    Science.gov (United States)

    Park, Jung Hun; Lee, Mu Hyoung

    2004-08-01

    Ota's nevus is mongolian spot-like macular blue-black or gray-brown patchy pigmentation that most commonly occurs in areas innervated by the first and second division of the trigeminal nerve. Acquired, bilateral nevus of Ota-like macules (ABNOM) is located bilaterally on the face, appears later in life, is blue-brown or slate-gray in color. It is not accompanied by macules on the ocular and mucosal membranes. There is also debate as to whether ABNOM is part of the Ota's nevus spectrum. We report an interesting case of ABNOM associated with Ota's nevus. A 36-yr-old Korean women visited our clinic with dark bluish patch on the right cheek and right conjunctiva since birth. She also had mottled brownish macules on both forehead and both lower eyelids that have developed 3 yr ago. Skin biopsy specimens taken from the right cheek and left forehead all showed scattered, bipolar or irregular melanocytes in the dermis. We diagnosed lesion on the right cheek area as Ota's nevus and those on both forehead and both lower eyelids as ABNOM by clinical and histologic findings. This case may support the view that ABNOM is a separate entity from bilateral Ota's nevus.

  2. Nevus of Ota: clinical-ophthalmological findings

    Directory of Open Access Journals (Sweden)

    Sebastião Cronemberger

    2011-10-01

    Full Text Available OBJECTIVE: To analyze the clinical and ophthalmological findings of patients with nevus of Ota. METHODS: Retrospective analysis of patients' charts with nevus of Ota. We registered the demographic data, location of the nevus and date of appearance, family history of similar spots, biomicroscopic, gonioscopic, tonometric, ophthalmoscopic and perimetric findings. RESULTS: We included 14 patients, six (43.0% men and eight (57.0% women, with a mean age of 21.7±17.5 years. Ten (71% were mulatto, three (21.4% white and one (7.1% black. Twelve (85.7% patients presented the spots at birth and two in puberty. Nine patients presented conjunctival and episcleral pigmentation in the right eye and five in the left eye. According to Tanino's classification, five (35.7% nevi were class 1, eight (57.1% class 2 and one (7.1% class 3. Heterochromia iridis was found in eight (57.1% patients. Anisocoria was present in three (21.4% patients. Five (35.7% patients presented a suspected glaucomatous cup disc ratio (≥0.7; six (42.9% presented a cup disc ratio ≤ 0.5 and three (21.4%, no cup disc. We found two curious and remarkable findings: a nevus of Ota on the palate of one patient and other on the optic disc associated with a pigmentary mottling of the fundus in another patient. The pigmentary mottling of the fundus was also seen in four more eyes. CONCLUSIONS: The nevus of Ota was frequently present at birth, in mulattos, and classified as Tanino's class 1 and 2. Heterochromia iridis was a common finding. Anisocoria was present in a small percentage of eyes. No patient developed glaucoma or malignancy.

  3. Malignant melanoma transformation within a nevus of Ito.

    Science.gov (United States)

    Wise, Sean R; Capra, Gregory; Martin, Peter; Wallace, Donna; Miller, Charles

    2010-05-01

    The mongolian spot, nevus of Ota, and nevus of Ito are the most common morphologic forms of the dermal melanocytoses, a group of benign pigmented lesions histologically characterized by the presence of melanocytes within the dermis. Nevus of Ito is clinically distinct, presenting with unilateral, bluish gray, patchy discolorations in the skin within the distributions of the posterior supraclavicular and lateral cutaneous brachial nerves. Although all dermal melanocytoses are generally considered benign, rare cases of malignant transformation associated with nevus of Ota have been described. Only one case of malignant melanoma transformation in association with nevus of Ito has previously been reported. We present the second description of malignant melanoma transformation within a nevus of Ito and provide comment on the malignant potential of the dermal melanocytoses.

  4. A Case of Iris Mammillation Associated with Nevus of Ota

    Directory of Open Access Journals (Sweden)

    Onur Polat

    2013-10-01

    Full Text Available Nevus of Ota is characterized by the presence of hyperpigmentation in the skin areas innervated by the first or the second branches of the trigeminal nerve. Women are affected three times as often as men. Although nevus of Ota is a congenital disorder, it can be seen in puberty or adulthood. Herein a case of nevus of Ota was reported accompanying iris heterochromia and rare iris mammillation. Because of the relationship between iris heterochromia and iris mammillation with glaucoma and especially uveal melanoma, all the patients with nevus of Ota should be monitored closely with regular ophthalmologic examination.

  5. A new classification of nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    HUANG Wen-hui; WANG Hong-wei; SUN Qiu-ning; JIN Hong-zhong; LIU Yue-hua; MA Dong-lai; ZUO Ya-gang

    2013-01-01

    Background The nevus of Ota,is a common benign pigmentary dermatosis,mainly involve innervation area of first and second branch of trigeminal nerve.The classification of nevus of Ota was proposed by Tanino,based on 26 cases of nevus of Ota from 1937 to 1940.Studies about its classification are rarely seen in last 70 years,while it is still practical today.Methods Based on the clinical photographs,1079 consecutive patients with nevus of Ota were verified and reclassified according to the innervation areas of the trigeminal nerve branches.Results In these 1079 cases,866 patients were in line with Tanino's classification (80.26%),and 213 patients were not (19.74%).We put forward a new clinical classification (Peking Union Medical College Hospital classification,PUMCH classification) of nevus of Ota based on the innervation area of the trigeminal nerve branches,composed of 5 types and 14 subtypes.The 5 types were as follows:Type Ⅰ-pigmentation maculeses involving the innervation area of one of the three trigeminal nerve branches,of which there were 424 cases (39.3%),comprising 6 subtypes; Type Ⅱ-pigmentation macules involving the innervation area of two branches of the three trigeminal nerve branches,of which there were 221 cases (20.48%),comprising 4 subtypes; Type Ⅲ — pigmentation macules involving the innervation area of all three trigeminal nerve branches,of which there were 361 cases (33.45%),comprising 2 subtypes; Type Ⅳ-bilateral type,in which the pigmentation macules involves the bilateral cheek,of which there were 63 cases (5.84%),comprising 2 subtypes; and Type Ⅴ-complications occurred in the patient,of which there were 10 cases (0.93%).Conclusion The new classification of nevus of Ota is based on the innervation area of the trigeminal nerve branches,and it covers all types of Tanino's classifications; on that basis,some new types and subtypes are brought in and cover almost every clinical condition.

  6. Verrucous Spitz Nevus in a Japanese Female

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    Rie Honda

    2013-11-01

    Full Text Available A 23-year-old female presented with a reddish-brown dome-shaped hyperkeratotic nodule of 11 × 10 mm on the left lower leg. Dermoscopic examination demonstrated a prominent whitish scaly area with ring-like appearance, pinkish-white structureless areas, a few milia-like cysts, dotted and glomerular vessels, and light brown globules. The lesion was completely excised under the diagnosis of verruca vulgaris or dermatofibroma. Histopathological examination revealed a well-circumscribed symmetric lesion with hyperkeratosis, acanthosis, and pseudohorn cysts. The lesion was composed of spindle-shaped and epithelioid melanocytes with large cytoplasm arranged in confluent nests surrounded by stromal fibrosis. Mitotic figures and Kamino bodies were absent. Moderate proliferation of capillaries was found in the papillary dermis. Immunohistochemical staining with melan-A or S-100 was positive for tumor cells, but the staining with HMB-45 was negative. Melan-A staining was weaker in the deeply situated cells than in the superficial ones, which is known as stratification. Finally, we made a diagnosis of verrucous Spitz nevus based on these findings. We should have been aware of the entity of verrucous Spitz nevus as a variant of Spitz nevus and its dermoscopic features in order to reach a correct diagnosis before excision.

  7. Heterogeneous topographic profiles of kinetic and cell cycle regulator microsatellites in atypical (dysplastic) melanocytic nevi.

    Science.gov (United States)

    Husain, Ehab A; Mein, Charles; Pozo, Lucia; Blanes, Alfredo; Diaz-Cano, Salvador J

    2011-04-01

    Atypical (dysplastic) melanocytic nevi are clinically heterogeneous malignant melanoma precursors, for which no topographic analysis of cell kinetic, cell cycle regulators and microsatellite profile is available. We selected low-grade atypical melanocytic nevi (92), high-grade atypical melanocytic nevi (41), melanocytic nevi (18 junctional, 25 compound) and malignant melanomas (16 radial growth phase and 27 vertical growth phase). TP53, CDKN2A, CDKN1A, and CDKN1B microsatellite patterns were topographically studied after microdissection; Ki-67, TP53, CDKN2A, CDKN1A, and CDKN1B expressions and DNA fragmentation by in situ end labeling for apoptosis were topographically scored. Results were statistically analyzed. A decreasing junctional-dermal marker expression gradient was observed, directly correlating with atypical melanocytic nevus grading. High-grade atypical melanocytic nevi revealed coexistent TP53-CDKN2A-CDKN1B microsatellite abnormalities, and significantly higher junctional Ki67-TP53 expression (inversely correlated with CDKN1A-CDKN1B expression and in situ end labeling). Malignant melanomas showed coexistent microsatellite abnormalities (CDKN2A-CDKN1B), no topographic gradient, and significantly decreased expression. Melanocytic nevi and low-grade atypical melanocytic nevi revealed sporadic junctional CDKN2A microsatellite abnormalities and no significant topographic kinetic differences. High-grade atypical melanocytic nevi accumulate junctional TP53-CDKN1A-CDKN1B microsatellite abnormalities, being progression TP53-independent and better assessed in the dermis. Melanocytic nevi and low-grade atypical melanocytic nevi show low incidence of microsatellite abnormalities, and kinetic features that make progression unlikely.

  8. Neurotized congenital melanocytic nevus resembling a pigmented neurofibroma

    Directory of Open Access Journals (Sweden)

    Nidhi Singh

    2015-01-01

    Full Text Available Neurotized congenital melanocytic nevus and pigmented neurofibroma (PNF are close mimics and pose a clinicopathological challenge. We present a case of pigmented hypertrichotic plaque over lumbosacral region and discuss the differential diagnosis and its clinical, histopathological and immunohistochemistry features which may aid in differentiation. We highlight the difficulties faced in differentiating neurotized congenital melanocytic nevus from pigmented neurofibroma.

  9. Cystic papillary renal cell carcinoma arising from an involutional multicystic dysplastic kidney

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jeong Jae; Kim, Bong Soo; Huh, Jung Sik; Park, Kyung Gi; Choi, Guk Myung; Kim, Seung Hyoung; Maeng, Young Hee [Jeju National University School of Medicine, Jeju National University Hospital, Jeju (Korea, Republic of)

    2015-11-15

    Multicystic dysplastic kidney is a common cystic renal disease that often occurs in infancy. Recent studies demonstrate the possibility for spontaneous involution of a dysplastic kidney. In such cases, the prognosis is generally excellent and there is a very low incidence of complications. Complications associated with multicystic dysplastic kidney include pain, infection, hypertension, and neoplasia. Renal cell carcinomas are extremely rare in multicystic dysplastic kidneys. To our knowledge, no case report has described a radiologic finding of renal cell carcinoma arising from an involutional multicystic dysplastic kidney. We report a case of histopathologically validated cystic papillary renal cell carcinoma arising from an involutional multicystic dysplastic kidney and describe its sonographic and CT features.

  10. Nevus depigmentosus treated by melanocyte-keratinocyte transplantation

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    Sanjeev V Mulekar

    2011-01-01

    Full Text Available Background : Nevus depigmentosus is a congenital, nonprogressive hypopigmented disorder. Various therapeutic methods have been attempted to repigment nevus with variable results. Objective : The objective of this study is to report our experience of treatment of nevus depigmentosus with a combination of noncultured melanocyte-keratinocyte transplantation (MKTP and excimer laser sessions. Materials and Methods : Six patients (male 1, female 5 of nevus depigmentosus were treated with a combination of noncultured melanocyte-keratinocyte transplantation and excimer laser. One patient was lost to follow-up. Remaining five patients were observed for a period ranging from 7 to 30 months. Results : Two patients responded poorly to MKTP. The remaining three patients responded with repigmentation ranging from 80% to 100% but the quality of repigmentation was unsatisfactory in two of them. Conclusion : Though repigmentation of nevus depigmentosus is possible by grafting techniques, the results are inconsistent and recurrence is possible.

  11. Late-onset Ito's nevus: an uncommon acquired dermal melanocytosis.

    Science.gov (United States)

    Mataix, Javier; López, Norberto; Haro, Rosario; González, Elena; Angulo, Jorge; Requena, Luis

    2007-08-01

    Dermal melanocytoses comprise a variety of congenital and acquired conditions characterized by a sparse population of intradermal dendritic, variably pigmented, spindle-shaped melanocytes. While Mongolian spot, Ota's and Ito's nevi are usually present at birth or appear around puberty; acquired dermal melanocytoses that appear in adult life are extremely rare. They include the facial lesions of acquired bilateral nevus of Ota-like macules, also named Hori's nevus, and the acquired unilateral nevus of Ota, also known as Sun's nevus. Uncommon extrafacial examples of acquired dermal melanocytoses include lesions involving upper extremities, wrist, back, lower extremities and dorsal aspects of the hands and feet. They are more prevalent among Asian women. In general, dermal melanocytoses are rare lesions in Caucasian patients and acquired variants are exceedingly uncommon. We report a rare example of acquired Ito's nevus that appeared in a Caucasian elderly woman and review the literature about acquired dermal melanocytoses.

  12. Degeneration in dysplastic hips. A computer tomography study

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Rømer, Lone; Søballe, Kjeld

    2005-01-01

    BACKGROUND: Hip dysplasia is considered pre-osteoarthritic, causing degeneration in young individuals. OBJECTIVE: To determine the pattern of degenerative change in moderate to severely dysplastic hips in young patients. DESIGN AND PATIENTS: One hundred and ninety-three consecutively......-referred younger patients with hip pain believed to be caused by hip dysplasia constituted the study cohort. The average age was 35.5 years (range, 15-61 years). They were examined by close-cut transverse pelvic and knee computed tomography and antero-posterior radiographs (CT). We identified 197 hips...... with moderate to severe dysplasia, and 78 hips with normal morphology in the study cohort, whilst 111 hip joints were borderline dysplastic according to preset definitions. Comparative analyses of anatomy and distribution of degeneration between dysplastic and normal hips in the study cohort were performed...

  13. Dysplastic gangliocytoma (Lhermitte-Duclos disease): CT and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Vieco, P.T.; Del Carpio-O' Donovan, R.; Melanson, D. (Montreal Neurological Hospital, PQ (Canada). Dept. of Diagnostic Radiology); Montes, J. (Montreal Children' s Hospital, PQ (Canada). Dept. of Neurosurgery); O' Gorman, A.M. (Montreal Children' s Hospital, PQ (Canada). Dept. of Radiology); Meagher-Villemure, K. (Montreal Children' s Hospital, PQ (Canada). Dept. of Pathology)

    1992-09-01

    Dysplastic gangliocytoma (Lhermitte-Duclos disease) is a rare entity. Usually presenting as a posterior fossa mass, dyplastic gangliocytoma is not a true neoplasm but a hard-to-characterize lesion that may represent an abnormality of cell migration or a phacomatosis. Previous reports of CT findings are rare in the radiologic literature, and high-field (1.5 Tesla) MR images have never been described in the pediatric age group. We present a case of dysplastic gangliocytoma in a one-year-old boy with CT and MR findings. (orig.).

  14. Cerebriform intradermal nevus presenting as cutis verticis gyrata with multiple cellular blue nevus over the body: A rare occurrence

    Directory of Open Access Journals (Sweden)

    Somenath Sarkar

    2014-01-01

    Full Text Available Cutis verticis gyrata is a rare skin condition characterized by swelling of scalp resembling the surface of the brain. Various conditions, like cerebriform intradermal nevus (CIN, may give rise to this clinical entity. Moreover, its association with cellular blue nevus is extremely rare and has not been reported so far. Here, we report a 28-year-old male with a huge cerebriform swelling covering the occipital lobe along with multiple nodules all over the body. Histology of the scalp swelling showed solitary or clusters of nevus cells in the dermis and from the body lesions showed features of cellular blue nevus. The diagnosis of CIN with cellular blue nevus was confirmed

  15. A clinician′s dilemma: Sturge-Weber syndrome ′without facial nevus′!!

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    Sujit A Jagtap

    2013-01-01

    Full Text Available Sturge-Weber syndrome (SWS is a rare, sporadic neurocutaneous syndrome characterized by a classical triad of facial port wine nevus, ipsilateral leptomeningeal angiomatosis (LAM and glaucoma. The incidence of SWS is 1/50,000 live births, although it is more often underreported. The incidence of SWS without facial nevus is not known, although very few patients without facial nevus have been reported. In these patients, the diagnosis of SWS is made by the findings of computed tomography, magnetic resonance imaging, and histopathology. Here, we report three patients with SWS from our cohort of 28 patients with SWS without facial nevus and discuss their clinical profile and outcome.

  16. Proteus syndrome

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    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  17. Malignant transformation of kissing nevus- a rare entity.

    Science.gov (United States)

    Kharel Sitaula, R; Batta, S; Shrestha, G B; Shrestha, J K

    2012-01-01

    Kissing nevus is a congenital nevus in adjacent parts of the eyelids. Malignant transformation of kissing or divided nevi of the eyelids is rarely described. To report a very rare case of malignant transformation of kissing nevus with ocular and extraocular spread. A 57- year- old man with 6/6 visual acuity in both eyes presented with a kissing nevus present since birth in right upper and lower eyelids which had a slow growth phase. The upper lid in the area of the nevus was thickened with a 20x12x15 mm black pigmented crusted hemorrhagic nodular lesions. The lower lid had a 6 mm black pigmented ulcerated lesion over the pre-existing nevus in the lateral third of the lid with full thickness infiltration. Another 5x4 mm pigmented lesion over the lower medial lid margin with a thickness of about 3 mm extended to the conjunctival side of the lower lid. Right sided pre-auricular and sub-maxillary nodes were palpable. A biopsy of tissue samples from the eyelid and pre-auricular nodes were consistent with malignant melanoma. Malignant transformation of kissing nevus is rare. It can spread to the conjunctiva,pre-auricular and sub-mandibular lymphnodes. © NEPjOPH.

  18. Hair Follicle Nevus: A Case Report

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    İnci Mevlitoğlu

    2014-06-01

    Full Text Available Hair follicle nevus (HFN is a rare hamartoma showing follicular differentiation. Hamartomas are benign tumoral formations caused by overproduction of normal tissues and cells. HFN was first introduced by Gans et al in 1928. There are a few reports in literature on HFN appearing as multiple lesions, which is often observed as a single papule or nodule. We are hereby present our patient having complaints beginning in early childhood as his lesions might be confused with other dermatoses located on face area. As far as we know, our patient is the first HFN case with bilateral, multiple, perioral, perinasal, periorbital and genital involvements.

  19. Proteus Syndrome with Arteriovenous Malformation

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    Ali Asilian

    2017-01-01

    Full Text Available Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.

  20. Unilateral Nevus of Ota with Bilateral Nevus of Ito and Palatal Lesion: A Case Report with a Proposed Clinical Modification of Tanino's Classification.

    Science.gov (United States)

    Mukhopadhyay, Amiya Kumar

    2013-07-01

    Nevus of Ota and nevus of Ito are rare dermal melanocytoses. Nevus of Ota may be very rarely associated with the nevus of Ito and other extra cutaneous features. Both nevi are similar in all respect apart from the area of distribution. Bilateral distribution of nevus of Ito is seldom reported in the literature. A 24-year-old male patient reported with nevus of Ota of the right side of his face since his infancy and nevus of Ito on both shoulder regions since early childhood. He had bluish lesions on the right side of his hard palate. Systemic examination was normal. Relevant laboratory investigations were non contributory. The histopathological examination of the skin from the affected areas showed the presence of elongated dendritic dermal melanocytes. The present case is the first report of an association of bilateral nevus of Ito with nevus of Ota and palatal lesions. Tanino classified Nevus of Ota into four groups. As both the nevi are similar in all respect except the area of distribution, a minor modification of the existing Tanino's classification to incorporate the nevus of Ito into the classification for the Ota's nevus may be appropriate.

  1. Unilateral nevus of ota with bilateral nevus of Ito and palatal lesion: A case report with a proposed clinical modification of tanino′s classification

    Directory of Open Access Journals (Sweden)

    Amiya Kumar Mukhopadhyay

    2013-01-01

    Full Text Available Nevus of Ota and nevus of Ito are rare dermal melanocytoses. Nevus of Ota may be very rarely associated with the nevus of Ito and other extra cutaneous features. Both nevi are similar in all respect apart from the area of distribution. Bilateral distribution of nevus of Ito is seldom reported in the literature. A 24-year-old male patient reported with nevus of Ota of the right side of his face since his infancy and nevus of Ito on both shoulder regions since early childhood. He had bluish lesions on the right side of his hard palate. Systemic examination was normal. Relevant laboratory investigations were non contributory. The histopathological examination of the skin from the affected areas showed the presence of elongated dendritic dermal melanocytes. The present case is the first report of an association of bilateral nevus of Ito with nevus of Ota and palatal lesions. Tanino classified Nevus of Ota into four groups. As both the nevi are similar in all respect except the area of distribution, a minor modification of the existing Tanino′s classification to incorporate the nevus of Ito into the classification for the Ota′s nevus may be appropriate.

  2. Unilateral Nevus of Ota with Bilateral Nevus of Ito and Palatal Lesion: A Case Report with a Proposed Clinical Modification of Tanino's Classification

    Science.gov (United States)

    Mukhopadhyay, Amiya Kumar

    2013-01-01

    Nevus of Ota and nevus of Ito are rare dermal melanocytoses. Nevus of Ota may be very rarely associated with the nevus of Ito and other extra cutaneous features. Both nevi are similar in all respect apart from the area of distribution. Bilateral distribution of nevus of Ito is seldom reported in the literature. A 24-year-old male patient reported with nevus of Ota of the right side of his face since his infancy and nevus of Ito on both shoulder regions since early childhood. He had bluish lesions on the right side of his hard palate. Systemic examination was normal. Relevant laboratory investigations were non contributory. The histopathological examination of the skin from the affected areas showed the presence of elongated dendritic dermal melanocytes. The present case is the first report of an association of bilateral nevus of Ito with nevus of Ota and palatal lesions. Tanino classified Nevus of Ota into four groups. As both the nevi are similar in all respect except the area of distribution, a minor modification of the existing Tanino's classification to incorporate the nevus of Ito into the classification for the Ota's nevus may be appropriate. PMID:23918999

  3. Bilateral Ota nevus in a 15 years old patient

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    Savaş Öztürk

    2013-12-01

    Full Text Available Nevus of Ota is a dermal melanocytosis, clinically localizedon skin that is innervated by the first and secondbranches of the trigeminal nerve. It occurs almost entirelyin Asian people. The clinical manifestations are usuallyunilateral; only 5% of cases are bilateral. In this article,due to rarity of the case, a 15-year-old patient, who was diagnosedwith bilateral ota nevus, without having any dermatologicalcomplaints other than cosmetic appearenceand stains in her eyes and around was presented.Key words: Bilateral ota nevus, child, melanocytosis

  4. Becker′s nevus with neurofibromatosis type 1

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    Sumit Kar

    2015-01-01

    Full Text Available Neurofibromatosis type 1 is an autosomal dominant disorder which primarily affects the growth and development of neural cell tissues. It presents as multiple tumor-like growths over the skin that arises from the nerves and is associated with other abnormalities like pigmentation over the skin and bone deformities. Becker′s nevus or hairy pigmented epidermal nevus is a benign cutaneous hamartoma which is characterized by hyperpigmented macule with hypertrichosis. It is rarely associated with neurofibromatosis. We report a 22-years-old male with coexistent Becker′s nevus and type 1 neurofibromatosis.

  5. Comparison of characteristics of acquired bilateral nevus of Ota-like macules and nevus of Ota according to therapeutic outcome.

    Science.gov (United States)

    Lee, Bangjin; Kim, You Chan; Kang, Won Hyoung; Lee, Eun-So

    2004-08-01

    Both acquired bilateral nevus of Ota-like macules (ABNOM) and nevus of Ota are characterized by the presence of dermal melanocytes. There are no differences in the method of treatment, however, postinflammatory hyperpigmentation (PIH) develops more often in ABNOM than in nevus of Ota following treatment. We investigated the differences in the development of PIH after treatment between ABNOM and nevus of Ota, and the histopathologic differences in the PIH. A total of 82 patients with ABNOM (n=47) and nevus of Ota (n=35) were treated with Q-switched alexandrite laser and followed up 2 weeks and 3 months later. Biopsies were performed on lesional skin before treatment. The distribution and the amount of melanin pigments were visualized with Fontana-Masson stain, and the distribution and the depth of melanocytes were measured by GP-100 (NK1-beteb) stain. Clinically, there was more erythema and PIH in ABNOM than in nevus of Ota. Histopathologically, intradermal melanocytes were clustered in groups and dispersed perivascularly in ABNOM, while melanocytes were scattered evenly throughout the dermis in nevus of Ota. Both groups show that when there is a statistically significant number of melanocytes in the perivascular area, erythema and PIH occur after laser therapy. In conclusion, indirect vessel injury in addition to perivascular clustering melanocytes might be considered the cause of increased PIH after treatment in ABNOM.

  6. Coat-sleeve type giant congenital melanocytic nevus with intraoral blue nevus: A rare case report

    Directory of Open Access Journals (Sweden)

    Lata M Kale

    2017-01-01

    Full Text Available Congenital melanocytic nevi (CMN are visible hyperpigmented (melanocytic, benign, tumor like proliferations in the skin resulting from faulty development of pigment cell precursors in the embryo, and are composed of an abnormal mixture of skin elements. Giant congenital melanocytic nevus (GCMN is usually defined as a melanocytic lesion present at birth that will reach a larger size in adulthood. GCMN is a rare variety of CMN which is characterized by its size (diameter ≥20 cm and the potential for malignant transformation. It is infrequently associated with other findings, which makes the clinical picture complex. In this case, we report a rare association of GCMN with intraoral blue nevus in a 24-year-old male patient.

  7. Intradermal melanocytic nevus of the external auditory canal.

    Science.gov (United States)

    Alves, Renato V; Brandão, Fabiano H; Aquino, José E P; Carvalho, Maria R M S; Giancoli, Suzana M; Younes, Eduado A P

    2005-01-01

    Intradermal nevi are common benign pigmented skin tumors. Their occurrence within the external auditory canal is uncommon. The clinical and pathologic features of an intradermal nevus arising within the external auditory canal are presented, and the literature reviewed.

  8. Becker nevus with vitiligo and lichen planus: Cocktail of dermatoses

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    Sanjeev Gupta

    2010-07-01

    Full Text Available Context: Becker nevus has been reported to be associated with lichen planus (LP in isolated case reports in past. The association of LP and vitiligo has been noted in few cases and has been attributed to a common autoimmune etiology. The coexistence of lichen planus, vitiligo and Becker nevus has not been reported so far. Case Report: A thirty five years old male presented with lesions of Becker nevus along with vitiligo and Lichen planus coexisting at one place on right side of the chest. Vitiligo and Becker nevus could not be treated. Lichen planus was confirmed histopathologically. We were able to treat lichen planus with topical potent steroids, tacrolimus and systemic antihistamines. The vitiligo lesion in our case was resistant to treatment. Conclusion: This case is being reported for the rare occurrence of three different well defined skin conditions in our patient and reviews the possible known etiological factors for their coexistence.

  9. Nevus of Ota: A series of 15 cases

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    Sekar Shanmuga

    2008-01-01

    Full Text Available Background: The nevus of Ota is a dermal nevus characterized by bluish pigmentation in the distribution of the first and the second division of the trigeminal nerve. Aim: Our aim was to study the cutaneous and extracutaneous manifestations of the nevus of Ota. Methods: A total of 15 cases were included in our study. A detailed history, clinical examination along with direct ophthalmoscopy and otoscopy were done for all the cases. Results: Most of the patients (60% had lesions at birth and the majority (86.7 % were females. Five (33.3% patients belonged to Tanino class II. Combined dermal and ocular involvement was observed in 60% of the cases. Conclusion: Tanino class II was the most common type observed in our studies. A few rarer associations such as nevus of Ito and hemangioma were also noted in our patients.

  10. Melanoma conjuntival multifocal recidivado originado de nevus pigmentado preexistente

    OpenAIRE

    Marcos Leandro Pereira; Dulcídio de Barros Moreira Júnior

    2014-01-01

    O melanoma conjuntival multifocal recidivado originado de nevus preexistente é extremamente raro, ocorrendo em uma pessoa para cinco milhões de habitantes. Seu estudo é de extrema relevância, devido sua potencial letalidade. Este estudo objetiva descrever um caso de melanoma conjuntival multifocal recidivado proveniente de nevus pigmentado preexistente ocorrido em Patos de Minas, MG. Este é um estudo de caso com revisão de literatura. O diagnóstico histopato...

  11. Spitz Nevus on the Earlobe Mimicking Cutaneous Leishmaniasis

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    İbrahim Özmen

    2010-06-01

    Full Text Available Spitz nevus is a benign, usually acquired melanocytic tumor which is seen especially in children and adolescents. It usually appears as a pink or light-brown, smooth-surfaced, well-circumscribed and asymptomatic papulonodular lesion. A large group of dermatologic disorders should be considered in the differential diagnosis. Herein we present a case of Spitz nevus with a two month history of a nodular lesion on the earlobe which mimicks cutaneous leishmaniasis clinically.

  12. Intracranial meningeal melanocytoma associated with nevus of Ota.

    Science.gov (United States)

    Pan, Hao; Wang, Handong; Fan, Youwu

    2011-11-01

    We report a rare intracranial meningeal melanocytoma associated with the nevus of Ota. The patient was 36-year-old man with a 2-week history of headache and difficulty in opening his right eye. Physical examination showed a black nevus scattered on the right-hand side of the face, right eyelid ptosis and papilledema. CT scans and MRI showed a tumor in the region of the right cavernous sinus. The tumor was subtotally resected. Histological examination confirmed the diagnosis of melanocytoma.

  13. Nevus of Ota”- A Rare Pigmentation Disorder with Intraoral Findings

    Science.gov (United States)

    Gupta, Sarika; Sharma, Nisha; Singh, Meenakshi; Bhateja, Sumit

    2014-01-01

    Nevus of Ota is a dermal melanocytosis seen along the distribution of ophthalmic and maxillary divisions of the trigeminal nerve. Only 12 cases so far have been reported in English literature and it is rare in Indian subcontinent. Most of the cases reported are in females and oral cavity is infrequently involved. Here, we report a rare case of unilateral Nevus of Ota in a 56-year-old male with oral manifestations. PMID:25302286

  14. Incidentally Detected Blue Nevus of Endocervix: a Case Report

    Science.gov (United States)

    Bhat, Shaila Talengala; Shivamurthy, Archana; Kini Rao, Anuradha Calicut

    2015-01-01

    Blue nevi are uncommon, asymptomatic lesions of the uterine cervix. These lesions are not often detected clinically or on colposcopy. Careful histopathological examination is required. The nevus cells are said to originate from the immature melanoblasts of the neural crest. These lesions need to be differentiated from malignant melanoma and melanosis of the cervix. We present here a case report of incidentally detected cervical blue nevus in a 52 year old lady. PMID:26351493

  15. Sturge-Weber syndrome: a case report and review of literatures

    Institute of Scientific and Technical Information of China (English)

    ZHOU Jing; LI Nan-yun; ZHOU Xiao-jun; WANG Jian-dong; MA Heng-hui; ZHANG Ru-song

    2010-01-01

    @@ Sturge-Weber syndrome (SWS), or encephalotrigeminal angiomatosis, is a rare, congenital neurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation (nevus flammeus or port-wine stain) in association with ipsilateral leptomeningeal angiomatosis.

  16. Assessment of dysplastic dentin in osteogenesis imperfecta and dentinogenesis imperfecta.

    Science.gov (United States)

    Malmgren, Barbro; Lindskog, Sven

    2003-04-01

    Two semiquantitative scoring systems, Clinical Radiographic Score (CRS) and Dysplastic Dentin Score (DDS), were introduced for analyzing degree of dysplastic manifestations in dentin. The utility of both systems was demonstrated in a large material of teeth from patients with dentinogenesis imperfecta (DI) and osteogenesis imperfecta (OI). Twenty teeth from healthy controls, 81 teeth from 40 patients with OI, and 18 teeth with DI without OI (DI type II) were examined. The degree of dysplasia was correlated with type and form of OI and type of DI. The median DDS did not differ between DI associated with OI (DI type I) and DI type II. DDS in OI patients without clinical signs of DI was above that of control teeth. Both circumpulpal and mantle dentin showed increased DDS, although circumpulpal dentin was more severely affected. The median DDS was highest for the most severe type of non-lethal OI (type III). DDS increased significantly with form (severity) of OI. A significant association between DDS and CRS was found, although diagnosis of DI in less severe cases was not possible based on radiographic or clinical signs alone. Thus, the DDS system proved valuable when the CRS system based on radiographic/clinical manifestations failed, the most significant finding being subclinical histological manifestations of DI in patients with OI but without clinical or radiographic signs of DI. These subtle dysplastic changes are most likely an expression of genetic disturbances associated with OI and should not be diagnosed as DI, but rather be termed histologic manifestations of dysplastic dentin associated with OI.

  17. Dysplastic lesions of the cervix evolution after conservative excision

    OpenAIRE

    G. Costăchescu; Alina Melinte-Popescu

    2012-01-01

    This study analyzes the evolution of dysplastic lesions after conservative excision treatment (Large Loop Excision Transformation Zone – LLETZ and conization). METHODS: We performed an observational study on a group of 332 patients, diagnosed and treated for cervical dysplasia at „Cuza Vodă” Obstetrics and Gynecology Clinic Hospital Suceava between 2006 and 2011. RESULTS: High grade cervical squamous intraepithelial lesion (HSIL) accounted for 88 patients (26.5%), low grade cervical squamous ...

  18. Woolly-hair nevus: report of a case associated with a verrucous epidermal nevus in the same area.

    Science.gov (United States)

    Peteiro, C; Oliva, N P; Zulaica, A; Toribio, J

    1989-09-01

    We cared for a patient with woolly-hair nevus (WHN) with hair of reduced diameter seen as oval shaped on transverse section. Scanning electron microscopy revealed a longitudinal canal along the length of the hair shaft. Although the association of WHN and epidermal nevus has been described previously, this report of their localization in the same site is, to our knowledge, the first in the literature.

  19. Nevus of ota with rare palatal involvement: a case report with emphasis on differential diagnosis.

    Science.gov (United States)

    Sharma, Gaurav; Nagpal, Archna

    2011-01-01

    Nevus of Ota, a dermal melanocytic nevus, is rare in the Indian subcontinent. It presents as a brown, blue, or gray patch on the face and is within the distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The oral cavity is infrequently involved in nevus of Ota. Only 11 cases have been documented in the English literature. We report a rare case of intraoral nevus of Ota in a 22-year-old male patient. This paper focuses on the differential diagnosis of oral manifestations of nevus of Ota to assist in proper followup to avert malignant transformation.

  20. Nevus of Ota with Rare Palatal Involvement: A Case Report with Emphasis on Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Gaurav Sharma

    2011-01-01

    Full Text Available Nevus of Ota, a dermal melanocytic nevus, is rare in the Indian subcontinent. It presents as a brown, blue, or gray patch on the face and is within the distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The oral cavity is infrequently involved in nevus of Ota. Only 11 cases have been documented in the English literature. We report a rare case of intraoral nevus of Ota in a 22-year-old male patient. This paper focuses on the differential diagnosis of oral manifestations of nevus of Ota to assist in proper followup to avert malignant transformation.

  1. Curved Periacetabular Osteotomy for the Treatment of Dysplastic Hips

    Science.gov (United States)

    Nakamura, Yoshinari

    2014-01-01

    Curved periacetabular osteotomy (CPO) was developed for the treatment of dysplastic hips in 1995. In CPO, the exposure of osteotomy sites and osteotomy of the ischium are made in the same manner as Bernese periacetabular osteotomy, and iliac and pubic osteotomies are performed in the same manner as rotational acetabular osteotomy. We studied the dynamic instabilities of 25 dysplastic hips before and after CPO using triaxial accelerometry. Overall magnitude of acceleration was significantly decreased from 2.30 ± 0.57 m/sec2 preoperatively to 1.55 ± 0.31 m/sec2 postoperatively. Pain relief and improvement of acetabular coverage resulting from acetabular reorientation seem to be related with reduction of dynamic instabilities of dysplastic hips. Isokinetic muscle strengths of 24 hips in 22 patients were measured preoperatively and after CPO. At 12 months postoperatively, the mean muscle strength exceeded the preoperative values. These results seem to be obtained due to no dissection of abductor muscles in CPO. The preoperative presence of acetabular cysts did not influence the results of CPO. An adequate rotation of the acetabular fragment induced cyst remodeling. Satisfactory results were obtained clinically and radiographically after CPO in patients aged 50 years or older. CPO alone for the treatment of severe dysplastic hips classified as subluxated hips of Severin group IV-b with preoperative CE angles of up to -20° could restore the acetabular coverage, weight-bearing area and medialization of the hip joint. CPO without any other combined procedure, as a treatment for 17 hips in 16 patients with Perthes-like deformities, produced good mid-term clinical and radiographic results. We have been performing CPO in conjunction with osteochondroplasty for the treatment of acatabular dysplasia associated with femoroacetabular impingement since 2006. The combined procedure has been providing effective correction of both acetabular dysplasia and associated femoral head

  2. Ameloblastic Fibrodentinoma: A Case with Varied Patterns of Dysplastic Dentin.

    Science.gov (United States)

    Bavle, Radhika M; Muniswammappa, Sudhakara; Venugopal, Reshma; R, Amulya S

    2017-06-14

    Ameloblastic fibrodentinoma is a benign odontogenic tumor belonging to the category of "odontogenic epithelium with odontogenic ectomesenchyme" along with recognition of induction in the form of dentin in atypical or dysplastic forms. The biological behaviour of ameloblastic fibrodentinoma is not very different from ameloblastic fibroma; hence, it is treated similarly by conservative procedures. It is important to understand the histopathogenesis of these rare tumors. Though rare, they are an independent entity awaiting recognition. Here, we report a case of amelobalstic fibrodentinoma in a 14-year-old female patient.

  3. [Schimmelpenning-Feuerstein-Mims syndrome: a case report].

    Science.gov (United States)

    Bahloul, E; Abid, I; Masmoudi, A; Makni, S; Kamoun, F; Boudawara, T; Triki, C; Turki, H

    2015-11-01

    Schimmelpenning-Feuerstein-Mims syndrome (SFM) is a congenital neurocutaneous disorder characterized by the association of nevus sebaceous with extracutaneous abnormalities. We report a new case of Schimmelpenning-Feuerstein-Mims with aortic coarctation and drug-resistant West syndrome. This case emphasizes the importance of exploring and monitoring patients with nevus sebaceous in order to diagnose associated anomalies. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  4. Acquired bilateral nevus of ota-like macules with Mucosal involvement: A new variant of Hori′s nevus

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    Ramesh M Bhat

    2014-01-01

    Full Text Available Acquired bilateral nevus of Ota-like macules (ABNOM or Hori′s nevus, a rare form of acquired dermal melanocytoses, presents as bilateral facial blue-gray macules without ocular or mucosal involvement. This condition is mostly found in women of Asian descent and usually appears in the fourth or fifth decade of life. Pathogenesis is unknown, though few theories have been proposed. Effective treatment has been found to be achieved with pigment-specific lasers. Herein, we report a case of Hori′s nevus with mucosal involvement. A 42-year-old male patient, presented to us with blue-gray discoloration on either side of his face, both eyes, and in the mouth since the age of one year. Histopathological examination showed clusters and singly dispersed pigmented melanocytes within the upper and mid-dermis regions. Special staining of melanocytes using Masson-Fontana stain was positive. Diagnosis of Hori′s nevus was made by correlating clinical and histopathological findings. Patient was informed of his treatment options, but refused treatment. A similar case of Hori′s nevus with mucosal involvement has not been reported so far.

  5. Acquired Bilateral Nevus of ota-like Macules with Mucosal Involvement: A New Variant of Hori's Nevus.

    Science.gov (United States)

    Bhat, Ramesh M; Pinto, Hyacinth Peter; Dandekeri, Sukumar; Ambil, Srinath Madapally

    2014-05-01

    Acquired bilateral nevus of Ota-like macules (ABNOM) or Hori's nevus, a rare form of acquired dermal melanocytoses, presents as bilateral facial blue-gray macules without ocular or mucosal involvement. This condition is mostly found in women of Asian descent and usually appears in the fourth or fifth decade of life. Pathogenesis is unknown, though few theories have been proposed. Effective treatment has been found to be achieved with pigment-specific lasers. Herein, we report a case of Hori's nevus with mucosal involvement. A 42-year-old male patient, presented to us with blue-gray discoloration on either side of his face, both eyes, and in the mouth since the age of one year. Histopathological examination showed clusters and singly dispersed pigmented melanocytes within the upper and mid-dermis regions. Special staining of melanocytes using Masson-Fontana stain was positive. Diagnosis of Hori's nevus was made by correlating clinical and histopathological findings. Patient was informed of his treatment options, but refused treatment. A similar case of Hori's nevus with mucosal involvement has not been reported so far.

  6. Tumores en colisión: quiste velloso eruptivo y nevus melanocítico congénito Collision tumors: eruptive villous cyst and congenital melanocytic nevus

    Directory of Open Access Journals (Sweden)

    N E Driban

    2009-06-01

    Full Text Available Presentamos dos casos de un tumor en colisión, de quistes vellosos con nevus melanocíticos congénitos, comentando en forma breve, aquellas características de asociación entre quistes y nevus melanocíticos, con diferentes patologías en coexistencia tumoral.We presented two cases of a collision tumor, of a villous cyst within a congenital melanocytic nevus. We made short comments about those characteristics of the association of cysts and melanocytic nevus with different pathologies with tumoral coexistence.

  7. Molecular analysis of a case of nevus of ota showing progressive evolution to melanoma with intermediate stages resembling cellular blue nevus.

    Science.gov (United States)

    Gerami, Pedram; Pouryazdanparast, Pedram; Vemula, Swapna; Bastian, Boris C

    2010-05-01

    Nevus of Ota is a variant of congenital nevus, which is morphologically paucicellular and resembles a common blue nevus. Although nevus of Ota is a risk factor for uveal melanoma in white people, the development of cutaneous melanoma within nevus of Ota is a very rare occurrence with only a few reported cases. We present a case of a long-standing nevus of Ota, with radiologic imaging demonstrating a large retro-orbital mass and a biopsy showing melanoma. The histopathology of the eye exenteration specimen illustrated various stages of melanocytic progression including areas resembling a nevus of Ota, blue nevus, cellular blue nevus, and melanoma. There was heterogeneity in the overtly malignant sections with some areas displaying expansile nodules of blander appearing spindled cells, whereas other areas were composed of epithelioid cells with higher mitotic counts and zones of necrosis. The extensive lesion also infiltrated the soft tissue and bone. We performed gene mutation analysis for GNAQ, BRAF, NRAS, and KIT and fluorescence in situ hybridization (FISH) targeting commonly altered chromosomal loci in melanoma and comparative genomic hybridization (CGH). Copy number changes typical of melanoma were identified by both FISH and CGH in the morphologically malignant areas illustrating the relationship of tumor progression and the progressive acquisition of genetic aberrations.

  8. Nonlinear tumor evolution from dysplastic nodules to hepatocellular carcinoma.

    Science.gov (United States)

    Joung, Je-Gun; Ha, Sang Yun; Bae, Joon Seol; Nam, Jae-Yong; Gwak, Geum-Youn; Lee, Hae-Ock; Son, Dae-Soon; Park, Cheol-Keun; Park, Woong-Yang

    2017-01-10

    Dysplastic nodules are premalignant neoplastic nodules found in explanted livers with cirrhosis. Genetic signatures of premalignant dysplastic nodules (DNs) with concurrent hepatocellular carcinoma (HCC) may provide an insight in the molecular evolution of hepatocellular carcinogenesis. We analyzed four patients with multifocal nodular lesions and cirrhotic background by whole-exome sequencing (WES). The genomic profiles of somatic single nucleotide variations (SNV) and copy number variations (CNV) in DNs were compared to those of HCCs. The number and variant allele frequency of somatic SNVs of DNs and HCCs in each patient was identical along the progression of pathological grade. The somatic SNVs in DNs showed little conservation in HCC. Additionally, CNVs showed no conservation. Phylogenetic analysis based on SNVs and copy number profiles indicated a nonlinear segregation pattern, implying independent development of DNs and HCC in each patient. Thus, somatic mutations in DNs may be developed separately from other malignant nodules in the same liver, suggesting a nonlinear model for hepatocarcinogenesis from DNs to HCC.

  9. Agminated Fibroblastic Conective Tissue Nevus: A New Clinical Presentation.

    Science.gov (United States)

    Downey, Camila; Requena, Luis; Bagué, Silvia; Sánchez Martínez, Miquel Ángel; Lloreta, Josep; Baselga, Eulalia

    2016-07-01

    Connective tissue nevi are benign hamartomatous lesions in which one or several of the components of the dermis (collagen, elastin, glicosaminoglycans) show predominance or depletion. Recently, de Feraudy et al broadened the spectrum of connective tissue nevus, describing fibroblastic connective tissue nevus (FCTN), which is characterized by proliferation of CD34(+) cells of fibroblastic and myofibroblastic lineage. Only solitary papules and nodules have been described. We present the first case of FCTN with multiple agminated lesions on the leg of an infant and the difficulties encountered in the differential diagnosis with dermatofibrosarcoma protuberans.

  10. Bilateral type of nevus of Ota presenting as agminated lentigines.

    Science.gov (United States)

    Kang, Hee Young; Kang, Won Hyoung

    2003-01-01

    We report a 30-year-old female patient with a history of hyperpigmented macules of the face since the age of 7 years. The clinical appearance, brown macules in multiple segmental or grouped patterns, was suggested to be agminated lentigines. However, histologic examination of the pigmented macule revealed scattered melanocytes within the dermis. We diagnosed this lesion as a bilateral type of nevus of Ota presenting as agminated lentigines. The differential diagnosis from acquired bilateral nevus of Ota-like macules was made.

  11. Choroidal neovascularization secondary to choroidal nevus simulating an inflammatory lesion

    Directory of Open Access Journals (Sweden)

    Samuray Tuncer

    2013-01-01

    Full Text Available Choroidal nevi are the most common benign pigmented lesions of the fundus. Choroidal neovascularization is a rare complication of choroidal nevi. We report herein a young patient managed successfully with intravitreal bevacizumab injections for juxtapapillary choroidal neovascularization secondary to choroidal nevus simulating an inflammatory lesion.

  12. Pigment reduction in nevus of Ota following leech therapy

    Science.gov (United States)

    Rastogi, Sanjeev; Chaudhari, Priyanka

    2014-01-01

    Nevus of Ota is a congenital blue-gray color nevus afflicting unilaterally, the area near the eyes. It poses a huge cosmetic concern besides being a potential threat for developing melanoma sometime in the course of the disease. The treatment options are neither many nor promising besides they are too expensive. We have treated a case of nevus of Ota with leech therapy where leech was applied upon the lesion for five times spanned in a period of 2 months. The results in terms of change in the color of lesion were evaluated with the help of serial photographs following every treatment session to mark the level of color changes in the lesion. A substantial reduction in color of the nevus was reported following the completion of the therapy. The results were demonstrated with the photographs. Although, recommended as the classical Ayurvedic management for skin diseases, leech therapy is not reported earlier in such conditions. It proposes a novel approach to deal with such congenital pigment lesions where other options are not promising. PMID:24948864

  13. Bilateral nevus of ota with oral mucosal involvement

    Directory of Open Access Journals (Sweden)

    Rathi Sanjay

    2002-01-01

    Full Text Available A 30-year-old female presented with asymptomatic slate brown hyperpigmented diffuse macules on both the cheeks, nose, forehead, eyelids, sclera, conjunctiva and hard palate since early childhood. Nevus of Ota, are in Indian subcontinent, commonly occurs unilaterally on face. This case is being reported for its rarity and extensive involvement.

  14. Pigment reduction in nevus of Ota following leech therapy

    Directory of Open Access Journals (Sweden)

    Sanjeev Rastogi

    2014-01-01

    Full Text Available Nevus of Ota is a congenital blue-gray color nevus afflicting unilaterally, the area near the eyes. It poses a huge cosmetic concern besides being a potential threat for developing melanoma sometime in the course of the disease. The treatment options are neither many nor promising besides they are too expensive. We have treated a case of nevus of Ota with leech therapy where leech was applied upon the lesion for five times spanned in a period of 2 months. The results in terms of change in the color of lesion were evaluated with the help of serial photographs following every treatment session to mark the level of color changes in the lesion. A substantial reduction in color of the nevus was reported following the completion of the therapy. The results were demonstrated with the photographs. Although, recommended as the classical Ayurvedic management for skin diseases, leech therapy is not reported earlier in such conditions. It proposes a novel approach to deal with such congenital pigment lesions where other options are not promising.

  15. Pigment reduction in nevus of Ota following leech therapy.

    Science.gov (United States)

    Rastogi, Sanjeev; Chaudhari, Priyanka

    2014-04-01

    Nevus of Ota is a congenital blue-gray color nevus afflicting unilaterally, the area near the eyes. It poses a huge cosmetic concern besides being a potential threat for developing melanoma sometime in the course of the disease. The treatment options are neither many nor promising besides they are too expensive. We have treated a case of nevus of Ota with leech therapy where leech was applied upon the lesion for five times spanned in a period of 2 months. The results in terms of change in the color of lesion were evaluated with the help of serial photographs following every treatment session to mark the level of color changes in the lesion. A substantial reduction in color of the nevus was reported following the completion of the therapy. The results were demonstrated with the photographs. Although, recommended as the classical Ayurvedic management for skin diseases, leech therapy is not reported earlier in such conditions. It proposes a novel approach to deal with such congenital pigment lesions where other options are not promising.

  16. SURGICAL TREATMENT OF PROGRESSIVE DYSPLASTIC COXARTROSIS IN CHILDREN (CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    Иван Иванович Кужеливский

    2017-03-01

    Full Text Available Dysplastic coxarthrosis is dominate among children orthopedic cases, and its surgical alignment continues to be peracute. Despite the application of advanced therapies and medical treatment, the patients of surgical state case constitute a significant percentage of the total patient number, i. e. from 19 to 35 %. In this article a detailed literature review of surgical alignment methods for deficiency acetabular roof by applying different implants has been described. The authors have proposed applying titanium nickelide materials in the surgical alignment method, as such materials possess the following properties: high corrosion stability, full compatibility with the body tissues, as well as, sufficient porosis providing radial border structure regeneration of acetabular roof, which in its turn, improves the support ability of extermity. In the event of progression of coxarthrosis iliac segment is reserved for the upcoming replacement.

  17. [Urethroplasty in hypoplastic-dysplastic corpus spongiosum and short urethra].

    Science.gov (United States)

    Vitarelli, Antonio; Divenuto, Lucia; Altomare, Mauro; Masiello, Giuseppe; Pagliarulo, Arcangelo

    2013-01-01

    Congenital penile curvature and chordee are a rare malformative condition most frequently associated with hypospadias, but varying degrees of penile curvature are observed with an orthotopic meatus. Disease becomes evident after puberty, when curvature becomes more apparent with erection. We present a case of a young man (16 years old), with ventral congenital penile curvature without hypospadias and with hypoplastic-dysplastic corpus spongiosum and short urethra, who could not have normal sexual intercourses. The patient underwent first-stage urethroplasty with urethral opening and graft of buccal mucosa and creation of a temporary hypospadic meatus. No post-operative complications were observed. There were no residual penile curvatures. Results are promising and satisfactory after the first surgical stage and provide a solid ground for the final reconstruction.

  18. Multicystic dysplastic kidney and contralateral vesicoureteral reflux. Renal growth.

    Science.gov (United States)

    Fanos, V; Sinaguglia, G; Vino, L; Pizzini, C; Portuese, A

    2001-04-01

    To evaluate if vesicoureteral reflux (VUR) contralateral to the multicystic dysplastic kidney can interfere with the compensatory renal hypertrophy. Twenty-seven patients (17 males, 10 females) with multicystic dysplastic kidney (MDK) (14 on the right, 13 on the left) have been treated at the Nephrology Unit of the Pediatric Department of the University of Verona from birth up to the second year of life. All these patients were diagnosed as having MDK by prenatal ultrasonography. Seven children (4 males and 3 females) had VUR (5 monolateral, 2 bilateral), diagnosed at the end of the first month of life. After diagnosis children underwent antibiotic prophylaxis with beta-lactam compounds at low doses. Four patients underwent a surgical correction of VUR associated with nephrectomy within the second year of life. The remaining 3 patients were treated with antibiotic prophylaxis; a progressive resolution or downgrading of reflux grade took place respectively in 1 and in 2 of them. Only 6 children with MDK underwent nephrectomy. Renal growth was studied by serial echographic measurements of the longitudinal renal lenght (performed at birth, at 6 months, and at 2 years of life). Renal length was 5.68+/-1.24 cm, 6.72+/-0.88 cm, 8.56+/-1.27 cm in children without VUR, respectively at birth, 6 months and 2 years of life. Renal length was 4.65+/-0.63 cm, 6.70+/-0.64 cm, 7.07+/-1.14 cm in children with VUR, respectively at birth, 6 months and 2 years of life. A statistically significant difference was observed between the two groups at birth (p<0.05) and at 2 years of life (p<0.01). The conclusion is that VUR contralateral to the MDK is associated with small kidneys and reduced renal growth both at birth and at 2 years of life.

  19. Non-surgical management of multicystic dysplastic kidney.

    Science.gov (United States)

    Cambio, Angelo J; Evans, Christopher P; Kurzrock, Eric A

    2008-04-01

    To better define the outcome and association of multicystic dysplastic kidney (MCDK) with hypertension, vesico-ureteric reflux (VUR), infection and cancer, as there is no consensus on the management of patients born with MCDK. The risk of cancer has dictated the surgical management of the disease in the past. The Medline database was searched for articles published between 1965 and 2006 and written in the English language, and containing the keywords 'multicystic dysplastic kidney'. The inclusion criteria were met by 105 reports that were subsequently analysed. Of MCDK, 60% regress or involute within 3 years. About 25% of patients will have VUR into the contralateral kidney, of which 90% is grade

  20. Rabson-mendenhall syndrome

    OpenAIRE

    Kumar Sarita; Tullu Milind; Muranjan Mamta; Kamat Jaishree

    2005-01-01

    Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.

  1. Rectal blue nevus: Case report of a rare entity and literature review.

    Science.gov (United States)

    Makker, Jasbir; Sakam, Sailaja; Arety, Prasanthi; Niazi, Masooma; Balar, Bhavna

    2015-08-01

    Blue nevus, a pigmented skin lesion, affects the dermal melanocytes that are rich in melanin. Its occurrence on skin has been well described in literature. Less commonly, involvement of mucosal surfaces especially genitourinary tract has also been noticed. Here we present a rare case of a blue nevus involving the rectum. So far there has been only one prior description of the blue nevus involving the gastrointestinal mucosa. Differentiation of this lesion from melanoma is the key. Simple excision of the blue nevus with a biopsy forceps during the colonoscopy is an effective management.

  2. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

    2016-07-15

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  3. Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association

    Science.gov (United States)

    Garg, Anubhav; Gupta, Lalit K.; Khare, A. K.; Kuldeep, C. M.; Mittal, Asit; Mehta, Sharad

    2013-01-01

    A 30-year-old Indian male presented with bilateral Nevus of Ota, extensive nevus flammeus over the trunk and left lower limb with soft tissue hypertrophy and varicosities affecting the left lower limb. He was otherwise in good general health. A diagnosis of Phacomatosis cesioflammea or Phacomatosis pigmentovasularis Type II with Klippel Trenaunay syndrome was made. The case is being reported on account of its rarity. PMID:23984239

  4. Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association

    Directory of Open Access Journals (Sweden)

    Anubhav Garg

    2013-01-01

    Full Text Available A 30-year-old Indian male presented with bilateral Nevus of Ota, extensive nevus flammeus over the trunk and left lower limb with soft tissue hypertrophy and varicosities affecting the left lower limb. He was otherwise in good general health. A diagnosis of Phacomatosis cesioflammea or Phacomatosis pigmentovasularis Type II with Klippel Trenaunay syndrome was made. The case is being reported on account of its rarity.

  5. A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association?

    OpenAIRE

    Kocak, Aslihan Yonca; Kocak, Oguzhan

    2015-01-01

    We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair. Association of woolly hair nevus with some other ectodermal defects effecting skin and eyes has been reported before. Here, woolly hair nevus associated with demarcation lines and heterochromia iridis, to our knowledge, have not been pre...

  6. A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association?

    Science.gov (United States)

    Kocak, Aslihan Yonca; Kocak, Oguzhan

    2015-01-01

    We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair. Association of woolly hair nevus with some other ectodermal defects effecting skin and eyes has been reported before. Here, woolly hair nevus associated with demarcation lines and heterochromia iridis, to our knowledge, have not been previously reported.

  7. Orbital malignant melanoma associated with nevus of Ota

    Directory of Open Access Journals (Sweden)

    Cherungottil V Radhadevi

    2013-01-01

    Full Text Available Nevus of Ota (oculodermal melanosis is a dermal melanocytic hamartoma with bluish hyperpigmentation along the first and second branches of the trigeminal nerve. Extracutaneous involvement, especially ocular, has been reported. A 45-year-old male presented with malignant melanoma of the left orbit in association with nevus of Ota. Being locally invasive, a modified exenteration with frontal flap repair was done on left eye. Adjuvant chemotherapy was given after wound healing. All pigmented lesions of the eye require close monitoring to help in the early diagnosis. Since malignant transformation has been reported in oculodermal melanosis, close follow-up and patient education will facilitate early diagnosis and prompt management. This case is reported for its rarity and unusual presentation.

  8. Orbital malignant melanoma associated with nevus of Ota.

    Science.gov (United States)

    Radhadevi, Cherungottil V; Charles, Kakkuzhiyil S; Lathika, Vasu K

    2013-06-01

    Nevus of Ota (oculodermal melanosis) is a dermal melanocytic hamartoma with bluish hyperpigmentation along the first and second branches of the trigeminal nerve. Extracutaneous involvement, especially ocular, has been reported. A 45-year-old male presented with malignant melanoma of the left orbit in association with nevus of Ota. Being locally invasive, a modified exenteration with frontal flap repair was done on left eye. Adjuvant chemotherapy was given after wound healing. All pigmented lesions of the eye require close monitoring to help in the early diagnosis. Since malignant transformation has been reported in oculodermal melanosis, close follow-up and patient education will facilitate early diagnosis and prompt management. This case is reported for its rarity and unusual presentation.

  9. Nevus of ota with buccal mucosal pigmentation: a rare case.

    Science.gov (United States)

    Shetty, Shishir Ram; Subhas, Babu G; Rao, Kumuda Arvind; Castellino, Renita

    2011-01-01

    Nevus of Ota is a condition wherein the typical pattern of the bluish black pigmentation is noticed along with the cutaneous distribution of the trigeminal nerve. This condition is most prevalent in Japanese population but comparatively rare among Indians. We report a case of 23-year-old female presented with unilateral pigmented areas over the skin of forehead, malar area, ear and periorbital area. Blackish-blue pigmented areas were also noticed on the sclera. Brownish-black diffuse pigmented areas were also noticed on the buccal mucosa of the same side. The presence of pigmentation on the skin over pinna and oral pigmentation made our case a rare incidence. Oral pigmentations associated with nevus of Ota especially on the buccal mucosa have rarely been reported in the past.

  10. Nevus of Ota with buccal mucosal pigmentation: A rare case

    Directory of Open Access Journals (Sweden)

    Shishir Ram Shetty

    2011-01-01

    Full Text Available Nevus of Ota is a condition wherein the typical pattern of the bluish black pigmentation is noticed along with the cutaneous distribution of the trigeminal nerve. This condition is most prevalent in Japanese population but comparatively rare among Indians. We report a case of 23-year-old female presented with unilateral pigmented areas over the skin of forehead, malar area, ear and periorbital area. Blackish-blue pigmented areas were also noticed on the sclera. Brownish-black diffuse pigmented areas were also noticed on the buccal mucosa of the same side. The presence of pigmentation on the skin over pinna and oral pigmentation made our case a rare incidence. Oral pigmentations associated with nevus of Ota especially on the buccal mucosa have rarely been reported in the past.

  11. Huge Nevus Lipomatosus Cutaneous Superficialis on Back: An Unusual Presentation.

    Science.gov (United States)

    Das, Dipti; Das, Anupam; Bandyopadhyay, Debabrata; Kumar, Dhiraj

    2015-01-01

    Nevus lipomatosus cutaneous superficialis (NLCS) is a benign dermatosis, histologically characterized by the presence of mature ectopic adipocytes in the dermis. We hereby report a case of a 10-year-old boy who presented with multiple huge swellings on the scapular regions and lower back. The lesions were surmounted by small papules, along with peau-d orange appearance at places. Histology showed features consistent with NLCS. The case is being reported for the unusual clinical presentation.

  12. Huge nevus lipomatosus cutaneous superficialis on back: An unusual presentation

    Directory of Open Access Journals (Sweden)

    Dipti Das

    2015-01-01

    Full Text Available Nevus lipomatosus cutaneous superficialis (NLCS is a benign dermatosis, histologically characterized by the presence of mature ectopic adipocytes in the dermis. We hereby report a case of a 10-year-old boy who presented with multiple huge swellings on the scapular regions and lower back. The lesions were surmounted by small papules, along with peau-d orange appearance at places. Histology showed features consistent with NLCS. The case is being reported for the unusual clinical presentation.

  13. A case of adult Spitz nevus%成人Spitz痣

    Institute of Scientific and Technical Information of China (English)

    陈佳; 宋勋; 宋宁静; 章楚光; 殷芳; 乐嘉豫

    2013-01-01

    A case of adult Spitz nevus is reported. A 21-year-old male presented with a nodule on the left leg for 2 months. The histopathologic examination showed a symmetrical eosinophil clusters in the dermis. Nests of epithelioid and spindle cells without pigment extended focally into the epidermis, with Kamino bodies along the dermo-epidermal junction. Vascular proliferation was evident between cell masses in upper dermis. Cells had regular shape. Immunohistochemical staining confirmed the melanocytic origin of nevus. The diagnosis of Spitz nevus was made.%报告1例成人Spitz痣.患者男,21岁.左小腿内侧皮损2个月.组织病理检查示真皮内嗜碱性梭形细胞团块,个别区域与表皮相连并成巢.真、表皮交界处可见嗜酸性均质小体,浅层细胞团块间血管增生.细胞无明显异形.免疫组化染色证实为黑素细胞来源.诊断:Spitz痣.

  14. Melanoma conjuntival multifocal recidivado originado de nevus pigmentado preexistente

    Directory of Open Access Journals (Sweden)

    Marcos Leandro Pereira

    2014-06-01

    Full Text Available O melanoma conjuntival multifocal recidivado originado de nevus preexistente é extremamente raro, ocorrendo em uma pessoa para cinco milhões de habitantes. Seu estudo é de extrema relevância, devido sua potencial letalidade. Este estudo objetiva descrever um caso de melanoma conjuntival multifocal recidivado proveniente de nevus pigmentado preexistente ocorrido em Patos de Minas, MG. Este é um estudo de caso com revisão de literatura. O diagnóstico histopatológico e o estadiamento precoce da lesão conjuntival é de fundamental importância para designar a conduta frente ao paciente. O procedimento terapêutico mais utilizado nos dias atuais é a excisão cirúrgica com crioterapia adjuvante associada à mitomicina C. O prognóstico do melanoma conjuntival multifocal recidivado originado de nevus preexistente é o pior dentre todos os melanomas oculares, apresentando alta taxa de mortalidade, 12% a 20% em 5 anos e 30% em 10 anos de desenvolvimento patológico.

  15. Severe Blue Rubber Bleb Nevus Syndrome in a Neonate

    DEFF Research Database (Denmark)

    Hansen, L; Wewer, V; Pedersen, S

    2008-01-01

    bleeding during the first 3 years of life. Afterwards repeated endoscopic electrocoagulations were performed over a period of one year resulting in a termination of bleeding episodes. At ten years of age the patient developed spastic diplegia with slight walking disabilities, coordination and fine motor...... problems. The case is unique because 1) it is the first neonatal case with BRBNS and severe gastrointestinal bleeding; 2) the patient was successfully treated by endoscopic electrocoagulation; and 3) the long-term follow-up. The use of electrocoagulation appears to have been effective and ablation...

  16. Severe Blue Rubber Bleb Nevus Syndrome in a Neonate

    DEFF Research Database (Denmark)

    Hansen, L; Wewer, V; Pedersen, S;

    2008-01-01

    bleeding during the first 3 years of life. Afterwards repeated endoscopic electrocoagulations were performed over a period of one year resulting in a termination of bleeding episodes. At ten years of age the patient developed spastic diplegia with slight walking disabilities, coordination and fine motor...... problems. The case is unique because 1) it is the first neonatal case with BRBNS and severe gastrointestinal bleeding; 2) the patient was successfully treated by endoscopic electrocoagulation; and 3) the long-term follow-up. The use of electrocoagulation appears to have been effective and ablation...

  17. "Sky Full of Stars" Pattern: Dermoscopic Findings in a Desmoplastic Giant Congenital Melanocytic Nevus.

    Science.gov (United States)

    Martín-Carrasco, Pablo; Bernabeu-Wittel, José; Dominguez-Cruz, Javier; Zulueta Dorado, Teresa; Conejo-Mir Sanchez, Julian

    2017-02-27

    Desmoplastic giant congenital melanocytic nevus (DGCN) is an uncommon variant of congenital nevus, presenting as a progressive induration and hypopigmentation of the lesion that occasionally causes hair loss and even total or partial disappearance of the nevus. A 6-month-old girl with a giant congenital melanocytic nevus that involved the entire posterior side of the right thigh was seen in our department. Nine months later, the peripheral area of the nevus presented as a marked induration with hypopigmentation. Dermoscopy demonstrated a reticular pattern exclusively located in the perifollicular areas, with a radial distribution from the follicular ostium that mimicked a "sky full of stars." We report a case of DGCN, including a dermoscopic description of the findings noted in the indurated and hypopigmented areas that appear as a "sky full of stars" image.

  18. Unusual halo nevi--darkening rather than lightening of the central nevus.

    Science.gov (United States)

    Huynh, P M; Lazova, R; Bolognia, J L

    2001-01-01

    Although the classic halo nevus is a brown nevus with a surrounding rim of depigmentation, i.e. a stage I halo nevus, these nevi can have several clinical stages. The central nevus may lose its pigmentation and appear pink with a surrounding halo (stage II), the central papule may disappear leading to a circular area of depigmentation (stage III) or the depigmented area may repigment (stage IV), leaving no trace of its prior existence. Herein we describe an unusual phenomenon--darkening of the central nevus rather than lightening--following the appearance of the halo phenomenon. An 18-year-old boy who had multiple atypical nevi developed multiple halo nevi beginning at the age of 12 years. Following the appearance of the peripheral halos, 2 of his nevi that were originally solid medium brown in color darkened and the hyperpigmentation had a reticulated pattern with perifollicular sparing. One possible explanation is a postinflammatory hyperpigmentation induced by the infiltrating lymphocytes.

  19. Morphometric justification of algorithm of the choice of method of surgical treatment of dysplastic coxarthrosis

    Directory of Open Access Journals (Sweden)

    Norkin I.A.

    2015-06-01

    Full Text Available Purpose: to define regularities of variability of bone structures of a hip joint depending on type of dysplastic coxarthrosis and to develop tactics of total endoprosthesis replacement. Objects of research. 106 patients with dysplastic coxarthrosis of varying severity, passing treatment on the basis of Federal State Budget Institution of Saratov Scientific Research Institute of Traumatology and Orthopedics from 2005 to 2014 applying methods X, KT-, MRT-metry variation and statistical methods. Results: According to anatomic features of a hip joint at dysplastic coxarthrosis of various types algorithms of choice of acetabularand femoral components of endoprosthesis, and also tactics of total endoprosthesis replacement in groups of research are developed. Conclusion. The choice of a standard size of an endoprosthesis of a hip joint needs to be carried out taking into account X-ray anatomic features of a hip joint and degree of expressiveness of the dysplastic changes. At dysplastic coxarthrosis of the l-ll types it is necessary to carry out standard total endoprosthesis replacement; at coxarthrosis of the III type —total endoprosthesis replacement in combination with plasticity of a roof of acetabular hollow; at coxarthrosis of the IV type — total endoprosthesis replacement in a combination from the shortening femur osteotomy.

  20. Rabson-mendenhall syndrome

    Directory of Open Access Journals (Sweden)

    Iffat Hassan

    2014-01-01

    Full Text Available Rabson-Mendenhall syndrome (RMS is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia. Herein, we describe a 13-year-old girl with physical features of RMS who presented to us on account of acanthosis nigricans.

  1. Rabson-mendenhall syndrome

    OpenAIRE

    Iffat Hassan; Hinah Altaf; Atiya Yaseen

    2014-01-01

    Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia. Herein, we describe a 13-year-old girl with physical features of RMS who presented to us on account of acanthosis nigricans.

  2. Rabson-mendenhall syndrome.

    Science.gov (United States)

    Hassan, Iffat; Altaf, Hinah; Yaseen, Atiya

    2014-11-01

    Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia. Herein, we describe a 13-year-old girl with physical features of RMS who presented to us on account of acanthosis nigricans.

  3. Finite element analysis of mechanical behavior of human dysplastic hip joints: a systematic review.

    Science.gov (United States)

    Vafaeian, B; Zonoobi, D; Mabee, M; Hareendranathan, A R; El-Rich, M; Adeeb, S; Jaremko, J L

    2016-11-09

    Developmental dysplasia of the hip (DDH) is a common condition predisposing to osteoarthritis (OA). Especially since DDH is best identified and treated in infancy before bones ossify, there is surprisingly a near-complete absence of literature examining mechanical behavior of infant dysplastic hips. We sought to identify current practice in finite element modeling (FEM) of DDH, to inform future modeling of infant dysplastic hips. We performed multi-database systematic review using PRISMA criteria. Abstracts (n = 126) fulfilling inclusion criteria were screened for methodological quality, and results were analyzed and summarized for eligible articles (n = 12). The majority of the studies modeled human adult dysplastic hips. Two studies focused on etiology of DDH through simulating mechanobiological growth of prenatal hips; we found no FEM-based studies in infants or children. Finite element models used either patient-specific geometry or idealized average geometry. Diversities in choice of material properties, boundary conditions, and loading scenarios were found in the finite-element models. FEM of adult dysplastic hips demonstrated generally smaller cartilage contact area in dysplastic hips than in normal joints. Contact pressure (CP) may be higher or lower in dysplastic hips depending on joint geometry and mechanical contribution of labrum (Lb). FEM of mechanobiological growth of prenatal hip joints revealed evidence for effects of the joint mechanical environment on formation of coxa valga, asymmetrically shallow acetabulum and malformed femoral head associated with DDH. Future modeling informed by the results of this review may yield valuable insights into optimal treatment of DDH, and into how and why OA develops early in DDH.

  4. Lugol's iodine identifies dysplastic tissue in precancerous lesions: A clinical trial

    Science.gov (United States)

    Fatima, Shereen; Basu, Rajarshi; Hallur, Neelakamal H.

    2016-01-01

    Introduction: Intraepithelial dysplasia, or “invisible” precancerous lesions, provides a challenge for visualization to the surgical team. The prognostic relevance of dysplasia and carcinoma in situ at surgical margins is well documented. Materials and Methods: We evaluated the use of Lugol's iodine in visualizing the surgical margins of dysplastic tissue by an observational study of 100 patients having oral precancerous lesions between June 2013 and March 2016. Conclusion: Lugol's iodine is a simple, inexpensive, and apparently effective means of diagnosing and visualizing the surgical margins of the dysplastic tissue in oral precancerous lesions. PMID:28299253

  5. Nevus of the Eyelid Margin Mimicking a Malignant Melanoma

    Directory of Open Access Journals (Sweden)

    A. Echchaoui

    2016-06-01

    Full Text Available Nevi are a benign skin lesions commonly found on the eyelid margin, these tumors are usually pigmented and have thickness. Nevi are not typically visible at birth; they appear during childhood and often exhibit a more rapid increase in pigmentation about the time of puberty. Most eyelid nevi can be diagnosed by clinical examination; suspicious lesions should be biopsied when rapid growth, loss of eyelashes or discoloration of the nevus is noted. Eyelid nevi require treatment if malignant transformation and/or cosmetically bothersome to the patient. We report a case of a 37-year-old female patient exhibited a single cutaneous tumor at the free margin of the lower left eyelid, she noticed a dark spot on their eyelid since childhood. It was a brown, fleshy, thickened, and nodular well-circumscribed exophytic mass, measuring 6 mm in diameter; its clinical appearance argued for a possible nodular melanoma. Excisional-biopsy was performed using a full-thickness pentagonal wedge excision technique. Histopathology showed that the lesion was a benign melanocytic nevocellular nevus. The post-operative courses were uneventful with excellent cosmetic and functional result. Preventive measures (cap, sunglasses... and regular monitoring of the lesion by assessing ABCDE criteria (asymmetry, irregular borders, multiple colors, diameter ≥ 6 mm, and enlargement remain necessary to detect and rule out a possible risk of malignant melanoma.

  6. Meningeal melanocytoma of Meckel's cave associated with ipsilateral Ota's nevus.

    Science.gov (United States)

    Botticelli, A R; Villani, M; Angiari, P; Peserico, L

    1983-06-15

    A case of meningeal melanocytoma of the left Meckel's cave associated with ipsilateral Ota's nevus in a 43-year-old woman, was studied by light and electron microscopy. The cells of the tumor were characterized by the presence of dendritic cytoplasmic processes, melanosomes and premelanosomes; hence, they were deemed as neoplastic melanocytes. Moreover, the tumor was lacking in histologic and ultrastructural features of pigmented meningioma, melanotic Schwannoma and primary meningeal melanoma. The prolonged clinical course was different from primary and metastatic malignant melanomas of the meninges. The best treatment appears to be radical excision, when possible; otherwise, the local or partial enucleation followed by radiation therapy has been found to be the best curative to date. On the whole, meningeal melanocytoma cannot be considered as entirely benign, given its morphologic patterns that resemble those of uveal melanoma, and its potential for recurrence. The association of this tumor with Ota's nevus is referred to as having a common origin from an arrested migration of melanoblasts at different stages.

  7. Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus

    Directory of Open Access Journals (Sweden)

    Naser Tayyebi Meibodi

    2011-01-01

    Full Text Available Epidermolytic hyperkeratosis presents with perinuclear vacuolization of the keratinocytes in spinous and granular layers, keratinocytes with ill-defined limits, which leads to a reticulate appearance of the epidermis, an increased number of variously shaped and sized basophilic keratohyalin granules and the same sized eosinophilic trichohyalin granules, at any level of epidermis, mainly in the stratum granulosum, and compact hyperkeratosis. This minor reactive pathologic reaction pattern of skin is found in large variety of diseases. This paper is the first case report of such pattern in inflammatory linear verrucous epidermal nevus. Our case is of a 23-year-old man with pruritic verrucous lesions of trunk and extremities initiated since 13 years ago. Physical examination revealed white linear hyperkeratotic lesions, some of them on erythematous background and also classic epidermal nevus. No skeletal, ophthalmic, and nervous system involvement was detected. Microscopic study of pruritic verrucous lesions showed psoriasiform acanthosis, mild papillomatous, hyperkeratosis, and epidermolytic hyperkeratotic changes in hair follicles and acrosyrinx accompanied with moderate perivascular inflammation.

  8. New Insights into the Molecular Distinction of Dysplastic Nevi and Common Melanocytic Nevi-Highlighting the Keratinocyte-Melanocyte Relationship.

    Science.gov (United States)

    Eliades, Philip; Tsao, Hensin

    2016-10-01

    Mitsui et al. approach the problem of differentiating dysplastic nevi from common melanocytic nevi through a molecular lens. Whereas most of the literature on this topic shines the spotlight toward melanocytes, the focus of this paper is shifted to the tumor microenvironment. Using microarrays, reverse transcriptase-PCR, and immunohistochemistry, their results emphasize the role of keratinocyte dysplasia within dysplastic nevi.

  9. Melanotic schwannoma arising in association with nevus of Ota: 2 cases suggesting a shared mechanism.

    Science.gov (United States)

    Trufant, Joshua W; Brenn, Thomas; Fletcher, Christopher D M; Virata, Andrew R; Cook, Deborah L; Bosenberg, Marcus W

    2009-12-01

    Melanotic schwannoma is a rare markedly pigmented peripheral nerve sheath tumor comprising cells with prominent melanization and schwannian features. The psammomatous variety is associated with Carney complex, a multiple neoplasia syndrome with spotty skin pigmentation. We present the first 2 reported cases of melanotic schwannoma arising in patients with a history of nevus of Ota, a rare dermal melanosis believed to represent a failure of melanocyte migration to the epidermis during embryogenesis. Case 1 involves a 40-year-old woman with a 1.8-cm, deeply pigmented, trigeminal nerve mass and pigmentation of the maxillary sinus mucosa and bone. Case 2 involves a 53-year-old woman with a 1.5-cm mass adjacent to the clavicle. Microscopically, both masses consist of partially encapsulated epithelioid and spindle cells with abundant melanin pigment, arising in association with peripheral nerves. Morphological, immunohistochemical, and ultrastructural features support a diagnosis of melanotic schwannoma. No psammoma bodies are noted, and neither patient exhibits any additional features of Carney complex. Melanotic schwannoma is most often benign but has been associated with malignant behavior in some cases. Distinguishing this nerve sheath tumor from malignant melanoma can be difficult but is of great clinical importance due to differences in prognosis and treatment.

  10. Intense pulsed light in treatment of nevus spilus: brief report of a clinical trial

    Directory of Open Access Journals (Sweden)

    Amir Houshang Ehsani

    2014-10-01

    Conclusion: Intense pulsed light is seemed an effective and safe treatment for nevus spilus Treatment; however randomized control trials with longer follow-up periods are required to evaluate the efficacy and safety.

  11. Unilateral open-angle glaucoma associated with the ipsilateral nevus of ota.

    Science.gov (United States)

    Magarasevic, Lidija; Abazi, Zihret

    2013-01-01

    The nevus of Ota also known as "congenital melanosis bulbi" and "oculodermal melanocytosis" is a blue-gray hyperpigmentation that occurs on the face and eyes. The sclera is involved in two-thirds of cases (causing an increased risk of glaucoma). Women are nearly five times more likely to be affected than men. It is rare among Caucasian people. The nevus of Ota is congenital or acquired. Most cases of the nevus of Ota are unilateral (90%), although pigmentation is present bilaterally in 5%-10%. Ocular abnormalities included pigmentation of the sclera, cornea, retina, and optic disc and cavernous hemangiomas of the optic disc, elevated intraocular pressure, glaucoma, and ocular melanoma. We reported an appearance of unilateral glaucoma in a Caucasian female patient with the acquired, ipsilateral nevus of Ota.

  12. Unilateral Open-Angle Glaucoma Associated with the Ipsilateral Nevus of Ota

    Directory of Open Access Journals (Sweden)

    Lidija Magarasevic

    2013-01-01

    Full Text Available The nevus of Ota also known as “congenital melanosis bulbi” and “oculodermal melanocytosis” is a blue-gray hyperpigmentation that occurs on the face and eyes. The sclera is involved in two-thirds of cases (causing an increased risk of glaucoma. Women are nearly five times more likely to be affected than men. It is rare among Caucasian people. The nevus of Ota is congenital or acquired. Most cases of the nevus of Ota are unilateral (90%, although pigmentation is present bilaterally in 5%–10%. Ocular abnormalities included pigmentation of the sclera, cornea, retina, and optic disc and cavernous hemangiomas of the optic disc, elevated intraocular pressure, glaucoma, and ocular melanoma. We reported an appearance of unilateral glaucoma in a Caucasian female patient with the acquired, ipsilateral nevus of Ota.

  13. Suprabasal spread of melanocytes in dysplastic nevi and melanoma in situ: Ki-67-labeling rate of junctional melanocytes and suprabasal cells may be a helpful clue to the diagnosis.

    Science.gov (United States)

    Hall, Brian J; LeBoit, Philip E

    2014-08-01

    Multiple criteria on routinely stained sections allow one to make a diagnosis of a dysplastic or "Clark" nevus (CN) versus melanoma in situ (MIS), and one of these is suprabasal spread of melanocytes. The extent of suprabasal spread of melanocytes in otherwise conventional CN and the combination of a sensitive marker of melanocytes combined with Ki-67 to assess the differences between the proliferation of melanocytes at the junction and those above it have not yet been studied. Fifty classic examples of CN and 27 cases of MIS were culled from the files of a university-based dermatopathology practice. All cases were stained with a 2-color method (MART-1/tyrosinase red, Ki-67 brown) to evaluate morphologic and immunohistochemical differences in these lesions. Fifteen of 50 cases of benign CN demonstrated suprabasal spread compared with 27 of 27 cases of MIS. The majority of CNs with suprabasal spread (13 of 15) showed a 0% Ki-67-labeling rate among the suprabasal melanocytes, and the majority of MISs (23 of 27) showed a 20% or greater Ki-67-labeling rate in suprabasal cells. Suprabasal melanocytes can be seen by immunostaining in otherwise unremarkable CN, wherein they are not notable in routinely stained sections, but their proliferation rate is much less than in MIS.

  14. Improving the diagnostic accuracy of dysplastic and melanoma lesions using the decision template combination method.

    Science.gov (United States)

    Faal, Maryam; Miran Baygi, Mohammad Hossein; Kabir, Ehsanollah

    2013-02-01

    Melanoma is the most dangerous type of skin cancer, and early detection of suspicious lesions can decrease the mortality rate of this cancer. In this article, we present a multi-classifier system for improving the diagnostic accuracy of melanoma and dysplastic lesions based on the decision template combination rule. First, the lesion is differentiated from the surrounding healthy skin in an image. Next, shape, colour and texture features are extracted from the lesion image. Different subsets of these features are fed to three different classifiers: k-nearest neighbour (k-NN), support vector machine (SVM) and linear discriminant analysis (LDA). The decision template method is used to combine the outputs of these classifiers. The proposed method has been evaluated on a set of 436 dermatoscopic images of benign, dysplastic and melanoma lesions. The final classifier ensemble delivers a total classification accuracy of 80.46%, with 67.73% of dysplastic lesions correctly classified and 83.53% of melanoma lesions correctly classified. The results show that the proposed method significantly increases the diagnostic accuracy of dysplastic and melanoma lesions compared with a single classifier. The total classification rate is also improved. © 2012 John Wiley & Sons A/S.

  15. Nevus y Melanoma de la conjuntiva ocular: Reporte de 3 casos Nevus and melanoma of the ocular conjunctiva: Report of 3 cases

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    Yolanda I. Hechavarría Duque

    2003-06-01

    Full Text Available Se reportó el estudio de las historias clínicas de 3 pacientes portadores de nevus de la conjuntiva ocular que evolucionó de manera desfavorable hacia melanoma de la conjuntiva, por lo que se plantea que el mejor tratamiento es el profiláctico en estos casos. Se realizaron conclusiones y recomendaciones.The study of the medical histories of 3 patients carriers of nevus of the ocular conjunctiva that evolved unfavorably towards melanoma of the conjunctiva is dealt with. As a result, it is stated that the prophylactic treatment is the best in these cases. Conclusions are reached and recommendations are made.

  16. Nevo palpebral dividido - "kissing nevus": relato clínico-patológico e tratamento cirúrgico de três casos Divided nevus of the eyelid - kissing nevus: clinicopathological report and surgical treatment of three cases

    Directory of Open Access Journals (Sweden)

    Eduardo Ferrari Marback

    2002-03-01

    Full Text Available Objetivo: Relatar aspectos clínico-patológicos e tratamento cirúrgico em três casos de nevo palpebral dividido -"kissing nevus". Métodos: Revisão dos prontuários de três pacientes portadores de nevo palpebral dividido. Análise dos aspectos clínico-patológicos, das técnicas cirúrgicas e resultados do tratamento. Resultados: A cura das lesões com bom resultado estético e funcional foi conseguida em todos os casos. Conclusões: A exérese do nevo palpebral dividido, em mais de um tempo cirúrgico utilizando deslizamento de retalhos cutâneos palpebrais e, em um caso, transplante de pele da pálpebra superior contralateral foi curativa nos três casos estudados.Purpose: To describe the clinical and pathological aspects, surgical treatment and results of three cases of divided nevus -"kissing nevus"- of the eyelid. Methods: Review of the clinicopathological data and surgical techniques used to treat these patients. Results: Cure of the lesions with good esthetic and functional results were obtained in all cases. Conclusions: Surgical excision of the divided nevus of the eyelid in more than one surgical session using flaps from the adjacent skin, and in one case, a free skin graft from the contralateral superior lid, was curative in the studied three cases.

  17. Giant congenital cellular blue nevus of the scalp: neonatal presentation and approach

    Directory of Open Access Journals (Sweden)

    Debyser M

    2011-12-01

    Full Text Available Martine Debyser1, Sofie De Schepper2, James D'haese1, Veerle De Ketelaere3, Luc Cornette11Neonatal Intensive Care Unit AZ St Jan Bruges-Ostend AV, Bruges, Belgium; 2Department of Dermatology, Ghent University Hospital, Ghent, Belgium; 3Department of Paediatrics, St Rembert Hospital, Torhout, BelgiumAbstract: The authors report the case of a massive vaginal bleeding during labor and delivery, resulting in the birth of a newborn infant in hypovolemic shock. The origin of the bleeding was a giant congenital cellular blue nevus (CBN of the scalp. The report illustrates the crucial role of immediate and aggressive volume resuscitation, suturing of the skin dehiscence, and firm external compression. This therapy was combined with whole-body hypothermia. The neurological outcome of the patient was normal. A shiny blue mass on the scalp should alert neonatologists to the possibility of a blue nevus of the scalp, rather than a simple scalp hematoma. Final diagnosis is made by biopsy and histologic examination. Early surgical intervention is necessary to prevent malignant degeneration and metastasis. A multidisciplinary approach involving a pediatrician/neonatologist, dermatologist, and surgeon is thus needed for diagnosis, treatment, and long-term follow-up.Keywords: neonate, cellular blue nevus, giant blue nevus, giant congenital blue nevus, hemorrhagic shock, whole-body hypothermia

  18. Treatment of nevus of Ota by the Q-switched alexandrite laser.

    Science.gov (United States)

    Alster, T S; Williams, C M

    1995-07-01

    The Q-switched alexandrite laser (755 nm, 100 nanoseconds) selectively targets and destroys cutaneous pigment such as that found in dermal pigmented lesions and tattoos. The nevus of Ota is a benign dermal melanocytic lesion, which, due to its large size and periocular location, has been notoriously difficult to treat. Utilizing the principles of selective photothermolysis, the alexandrite laser could effect an excellent treatment for nevus of Ota. To report the effectiveness of the Q-switched alexandrite laser in treating nevus of Ota. Seven patients with nevus of Ota were treated with the Q-switched alexandrite laser (755 nm, 100 nanoseconds) with energy densities ranging from 4.75 to 7.0 J/cm2 at 8-12-week intervals. Response to therapy was evaluated through independent observation and rating of sequential photographs by two blinded observers. Histologic examinations of lesional skin biopsies before and after completion of laser treatments were performed. An average of two laser treatments were required to effect an average clinical improvement of 50%. Five patients showed 100% lesional clearance after an average of five treatments. No scarring, textural changes, or pigmentary side effects were observed in treated skin. Histology of laser-irradiated lesions revealed elimination of upper dermal pigmentation without epidermal disruption, and rare melanophages and pigmented spindle cells in the deep reticular dermis. No lesional recurrences were observed up to 1 year following treatment. The Q-switched alexandrite laser can effectively eliminate nevus of Ota without untoward side effects, such as scarring.

  19. Reduction in nevus biopsies in patients monitored by total body photography.

    Science.gov (United States)

    Truong, Amanda; Strazzulla, Lauren; March, Jordon; Boucher, Kenneth M; Nelson, Kelly C; Kim, Caroline C; Grossman, Douglas

    2016-07-01

    Total body photography (TBP) can facilitate identification of new and changing lesions. By confirming that particular nevi are stable, TBP may reduce nevus biopsies. We sought to determine the number and rate of nevus biopsies before and after TBP, and the factors associated with increased biopsy rate during monitoring by TBP. We reviewed records of all patients in 2 pigmented lesion clinics (PLCs) who received TBP and had 2 or more follow-up visits over a period of 2 years or longer. Before PLCs and TBP, the mean number of nevus biopsies per patient was 5.92 (589 patients) at a mean rate of 1.62 per year (160 patients). After TBP in PLCs, the same patients averaged 1.56 biopsies at a mean rate of 0.34 per year (P < 2 × 10(-16)). The entire cohort (926 patients) averaged similarly low post-TBP biopsy rates of less than 0.2 per year and per visit. Biopsy rates after TBP were positively correlated with decreased age, male gender, and family history of melanoma, but not nevus number. Some information was not available for some patients. Patients at risk for melanoma experienced a 3.8-fold reduction in nevus biopsies after TBP. Younger male patients with family history of melanoma had higher biopsy rates after TBP. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  20. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

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    Kundan Mittal

    2014-01-01

    Full Text Available The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.

  1. Manifestations, Treatment Implications and Speech-Language Consideration in Gorlin Syndrome: A Case Study.

    Science.gov (United States)

    Andrews, Alice E.; Stonestreet, Ruth H.

    This paper presents a case study of Gorlin Syndrome, also known as Basal Cell Nevus Syndrome, a rare genetic disorder characterized by widespread developmental defects. Criteria for diagnosis are listed, noting the presence of frequent basal cell carcinomas at a relatively young age and multiple cysts of the jaw. Speech and/or language impairments…

  2. Application of an artificial neural network and morphing techniques in the redesign of dysplastic trochlea.

    Science.gov (United States)

    Cho, Kyung Jin; Müller, Jacobus H; Erasmus, Pieter J; DeJour, David; Scheffer, Cornie

    2014-01-01

    Segmentation and computer assisted design tools have the potential to test the validity of simulated surgical procedures, e.g., trochleoplasty. A repeatable measurement method for three dimensional femur models that enables quantification of knee parameters of the distal femur is presented. Fifteen healthy knees are analysed using the method to provide a training set for an artificial neural network. The aim is to use this artificial neural network for the prediction of parameter values that describe the shape of a normal trochlear groove geometry. This is achieved by feeding the artificial neural network with the unaffected parameters of a dysplastic knee. Four dysplastic knees (Type A through D) are virtually redesigned by way of morphing the groove geometries based on the suggested shape from the artificial neural network. Each of the four resulting shapes is analysed and compared to its initial dysplastic shape in terms of three anteroposterior dimensions: lateral, central and medial. For the four knees the trochlear depth is increased, the ventral trochlear prominence reduced and the sulcus angle corrected to within published normal ranges. The results show a lateral facet elevation inadequate, with a sulcus deepening or a depression trochleoplasty more beneficial to correct trochlear dysplasia.

  3. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  4. Nevus trichilemmocysticus: report of a new case of a recently recognized entity.

    Science.gov (United States)

    Larralde, Margarita; Boggio, Paula; Abad, María Eugenia; Corbella, Cristina; Happle, Rudolf

    2011-01-01

    A new type of organoid epidermal nevus, characterized by the presence of multiple trichilemmal cysts disposed in a linear arrangement, was recently recognized and named nevus trichilemmocysticus. We report a 10-year-old girl with a congenital linear dermatosis affecting the head, neck, trunk, limbs, palms, and soles. Initially, the lesions that followed the lines of Blaschko consisted of yellowish plaques covered by verrucous papules and filiform hyperkeratoses. Additionally, since the age of 6 years, numerous cyst-like structures developed on the linear lesions involving the limbs. On histopathological examination, all of the excised cystic lesions were found to be trichilemmal cysts. Hence, we herein describe a new case of nevus trichilemmocysticus. © 2010 Wiley Periodicals, Inc.

  5. Metastatic melanoma with features of blue nevus and tumoral melanosis identified during pembrolizumab therapy

    Directory of Open Access Journals (Sweden)

    Matthew F. Helm, MD

    2017-03-01

    Full Text Available Metastatic melanoma may exhibit clinical or histologic features of blue nevus. Pembrolizumab therapy is associated with regression and tumoral melanosis. We report on a man with widespread metastatic melanoma on pembrolizumab therapy in whom a blue-grey papule developed on the left side of his neck that clinically resembled a blue nevus and histologically showed features of both blue nevus and tumoral melanosis. The subtle melanocytic component and prominent changes of regression evident on biopsy suggest that his immunomodulatory therapy may have influenced the histologic findings noted on biopsy. Physicians that treat patients with metastatic melanoma should be aware of the spectrum of histologic findings evident on biopsy not only to allow for early diagnosis but to also better understand the effects of treatment.

  6. Treatment of nevus of OTA by Q-switched, frequency doubled, ND: Yag laser

    Directory of Open Access Journals (Sweden)

    National Skin and Hair Care Centre

    2002-01-01

    Full Text Available Nevus of Ota is a dermal melanocytic nevus for which hitherto no effective therapy was available. Lasers have been successfully tried for ablation. But there is no Indian experience till date. Q- Switched, Frequency Doubled, Nd: YAG Laser was installed at our centre an year ago. The first operated case, which has shown near complete pigment dilution, is being presented. The patient underwent three treatments with a minimum of 2 months between sessions. Pre and post therapy photographs were taken and side effects documented. The patient has shown near complete pigment dilution after 3 treatments. Q-Switched, Frequency Doubled, Nd: YAG Laser is effective in treating Nevus of Ota in the Indian skin types. There are no complications noticed till date in our experience.

  7. Effect of hair color and sun sensitivity on nevus counts in white children in Colorado.

    Science.gov (United States)

    Aalborg, Jenny; Morelli, Joseph G; Byers, Tim E; Mokrohisky, Stefan T; Crane, Lori A

    2010-09-01

    It has been widely reported that individuals with a light phenotype (ie, light hair color, light base skin color, and propensity to burn) have more nevi and are at greater risk for developing skin cancer. No studies have systematically investigated how phenotypic traits may interact in relation to nevus development. We sought to systematically examine whether any combinations of phenotype are associated with a greater or lesser risk for nevus development in white children. In the summer of 2007, 654 children were examined to determine full body nevus counts, skin color by colorimetry, and hair and eye color by comparison with charts. Interviews of parents were conducted to capture sun sensitivity, sun exposure, and sun protection practices. Among 9-year-old children with sun sensitivity rating type II (painful burn/light tan), those with light hair had lower nevus counts than did those with dark hair (P value for interaction = .03). This relationship was independent of eye color, presence of freckling, sex, usual daily sun exposure, sunburn in 2004 to 2007, sun protection index, and waterside vacation sun exposure. The difference in nevus counts was further determined to be specific to small nevi (<2 mm) and nevi in intermittently exposed body sites. Geographic and genetic differences in other study populations may produce different results. The standard acceptance that dark phenotype is a marker for low melanoma risk and light phenotype a marker for high risk may need to be reevaluated. In non-Hispanic white children, dark-haired individuals who burn readily and then tan slightly are more prone to nevus development, and may therefore be a previously underrecognized high-risk group for melanoma. Copyright 2009 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  8. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

    NARCIS (Netherlands)

    Wieczorek, D.; Gener, B.; Gonzalez, M.J.; Seland, S.; Fischer, S.; Hehr, U.; Kuechler, A.; Hoefsloot, L.H.; Leeuw, N. de; Gillessen-Kaesbach, G.; Lohmann, D.R.

    2009-01-01

    Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as

  9. Report of rare palatal expression of Nevus of Ota with amendment of Tanino's classification.

    Science.gov (United States)

    Guledgud, Mahima V; Patil, Karthikeya; Srivathsa, Srikanth H; Malleshi, Suchetha N

    2011-01-01

    Nevus of Ota, a benign melanocytic pigmentary disorder with rare malignant transformation potential, affects 0.014-0.034% of the Asian and Black population and has a strong predilection for females. It occurs in the area innervated by the first and second division of the trigeminal nerve. Oral manifestation is rarely noted with only 14 cases reported till date. This report documents a case of Nevus of Ota with the infrequently noted oral involvement, in an Indian lady. Since oral manifestation is not acknowledged in Tanino's classification, the authors propose a modification to the same.

  10. Report of rare palatal expression of Nevus of Ota with amendment of Tanino′s classification

    Directory of Open Access Journals (Sweden)

    Mahima V Guledgud

    2011-01-01

    Full Text Available Nevus of Ota, a benign melanocytic pigmentary disorder with rare malignant transformation potential, affects 0.014-0.034% of the Asian and Black population and has a strong predilection for females. It occurs in the area innervated by the first and second division of the trigeminal nerve. Oral manifestation is rarely noted with only 14 cases reported till date. This report documents a case of Nevus of Ota with the infrequently noted oral involvement, in an Indian lady. Since oral manifestation is not acknowledged in Tanino′s classification, the authors propose a modification to the same.

  11. A Case of "Inflammatory Linear Verrucous Epidermal Nevus" (ILVEN) Treated with CO2 Laser Ablation.

    Science.gov (United States)

    Gianfaldoni, Serena; Tchernev, Georgi; Gianfaldoni, Roberto; Wollina, Uwe; Lotti, Torello

    2017-07-25

    The "inflammatory linear verrucous epidermal nevus" is a rare disease, consisting of hyperplasia of the normal components of the epidermis. Its clinical features include erythematous and hyperkeratosic, warty, sometimes psoriasiform or lichenoid patches with a typical linear arrangement. At present, there are no effective medical therapies available. Currently, the best therapeutic results are obtained with surgical excision or the latest laser therapy. The Authors present a 9-years old girl with an inflammatory linear verrucous epidermal nevus on her neck, successfully treated with CO2 Laser ablation.

  12. Treatment of a giant congenital melanocytic nevus in the adult: review of the current management of giant congenital melanocytic nevus.

    Science.gov (United States)

    Su, Jeannie J; Chang, Daniel K; Mailey, Brian; Gosman, Amanda

    2015-05-01

    Giant congenital melanocytic nevi (GCMNs) create cosmetic disfigurements and pose risk for malignant transformation. Adult GCMN cases are uncommon because most families opt for surgical treatment during childhood. We review the current literature on GCMN and present an interesting case of an adult with a GCMN encompassing the entire back with painful nodules exhibiting gross involvement of his back musculature, without pathologic evidence of malignancy. Surgical management was deferred in childhood because of parental desires to allow the patient to make his own decision, and treatment in adulthood was pursued on the basis of the significant impairment of the patient's quality of life and self-esteem due to the massive size and deforming nature of the nevus. The treatment strategy used for this young adult male patient involved a massive en bloc excision of the GCMN with partial resection of the latissimus dorsi, followed by a 5-week staged reconstructive process using dermal regenerative matrices and split-thickness skin grafting. Because of the shift in GCMN management from early surgical management to more conservative management, we may see an increase in adult cases of GCMN. Thus, it is critical to better understand the controversy surrounding early versus delayed management of GCMN.

  13. RABSON-MENDENHALL SYNDROME: A CASE REPORT

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    Mohammad Reza ALAEI

    2010-06-01

    Full Text Available Rabson-Mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this is the first report of the Rabson-Mendenhall syndrome from Iran.

  14. Surgical management of Gorlin syndrome: a 4-decade experience using local excision technique.

    Science.gov (United States)

    Griner, Devan; Sutphin, Daniel; Sargent, Larry A

    2015-04-01

    Basal cell nevus syndrome (aka Gorlin syndrome, Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, and fifth phacomatosis) is a rare but well-described autosomal dominant condition with variable penetrance. We present a female patient who has been successfully treated using local surgical excision and diligent skin surveillance for more than 4 decades, demonstrating that simple local incision is an efficacious and reasonable surgical alternative that may circumvent the specialization and expense of Mohs technique.

  15. Abdominal vascular syndromes: characteristic imaging findings*

    Science.gov (United States)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. PMID:27777480

  16. Treatment of dysplastic Barrett's Oesophagus in lowervolume centres after structured training

    Institute of Scientific and Technical Information of China (English)

    Georgina Chadwick; Jack Faulkner; Robert Ley-Greaves; Panagiotis Vlavianos; Rob Goldin; Jonathan Hoare

    2015-01-01

    AIM: To investigate whether dysplastic Barrett'sOesophagus can be safely and effectively treatedendoscopically in low volume centres after structuredtraining.METHODS: After attending a structured trainingprogram in Amsterdam on the endoscopic treatmentof dysplastic Barrett's Oesophagus, treatment ofthese patients was initiated at St Marys Hospital. Thisis a retrospective case series conducted at a UnitedKingdom teaching Hospital, of patients referred forendoscopic treatment of Barrett's oesophagus with highgrade dysplasia or early cancer, who were diagnosedbetween January 2008 and February 2012. Datawas collected on treatment provided (radiofrequencyablation and endoscopic resection), and success oftreatment both at the end of treatment and at followup. Rates of immediate and long term complicationswere assessed.RESULTS: Thirty-two patients were referred to StMarys with high grade dysplasia or intramucosal cancerwithin a segment of Barrett's Oesophagus. Twentysevenmet the study inclusion criteria, 16 of these hada visible nodule at initial endoscopy. Treatment wasgiven over a median of 5 mo, and patients receiveda median of 3 treatment sessions over this time.At the end of treatment dysplasia was successfullyeradicated in 96% and intestinal metaplasia in 88%, onper protocol analysis. Patients were followed up for amedian of 18 mo. At which time complete eradicationof dysplasia was maintained in 86%. Complicationswere rare: 2 patients suffered from post-procedural bleeding, 4 cases were complicated by oesophageal stenosis. Recurrence of cancer was seen in 1 case. CONCLUSION: With structured training good outcomes can be achieved in low volume centres treating dysplastic Barrett's Oesophagus.

  17. Phakomatosis cesioflammea with late-onset glaucoma and acquired nevus spilus-like lesion - 15 years of follow-up.

    Science.gov (United States)

    Chiu, Hsiu-Hui; Chen, Gwo-Shing; Wu, Chieh-Shan; Ke, Chiao-Li Khale; Cheng, Shih-Tsung

    2009-04-01

    Phakomatosis pigmentovascularis is a very rare disease characterized by coexistence of a capillary malformation with various melanocytic lesions, including dermal melanocytosis (Mongolian spots), nevus spilus, and nevus of Ota. As of now about 200 cases have been reported, most are of Japanese origin and about half of reported cases are associated with various systemic involvement. We present a 15-year-old Taiwanese male with phakomatosis cesioflammea who developed, during adolescence, a nevus spilus-like lesion and late-onset open angle glaucoma, suggesting that long-term ophthalmic follow-up is necessary in this type of patient.

  18. Comparación del perfil de expresión proteíco entre nevus y melanoma

    OpenAIRE

    2011-01-01

    El nevus melanocítico es una proliferación anormal pero benigna de los melanocitos de la piel que tienden a agruparse en nidos o tecas. Su importancia radica en su posible relación con el melanoma como simulador, marcador de riesgo o posible precursor. De entre todos, los nevus displásicos y los congénitos, especialmente los gigantes, son los de mayor potencial maligno. Los nevus displásicos y los de Spitz son los que más comúnmente se confunden con melanomas. El melanoma es el cáncer d...

  19. Huge Obstructive Bladder Diverticula and Cystic Dysplastic Kidneys in a Newborn: A Challenging Dilemma

    Directory of Open Access Journals (Sweden)

    Seyed Hassan Mostafavi

    2010-08-01

    Full Text Available This study investigated a 63-day boy with end stage renal disease and abdominalcysts.The antenatal sonography detected anhydraminos, posterior urethral valve,and cystic dysplastic kidneys. Voiding cystourethrogram revealed two obstructivegiant diverticula which at firstlooked like enlarged renal pelvis.The patient had persistenturinary tract infection and perforation of diverticula. The dialysis was ineffectivebecause of leakage,immeasurable inflow and dwell volume, peritonitis and tunnelinfection.As a result, the availability of automated peritoneal dialysis for infantsis recommended to reduce morbidity and increasing the survival rate. Nonethelessthe giant bladder diverticules might be better managed by diverticulectomy procedure.

  20. Flat Choroidal Nevus Inaccessible to Ultrasound Sonography Evaluated by Enhanced Depth Imaging Optical Coherence Tomography

    Directory of Open Access Journals (Sweden)

    Chrysanthi Basdekidou

    2011-06-01

    Full Text Available Purpose: To demonstrate the usefulness of enhanced depth imaging optical coherence tomography (EDI-OCT in investigating choroidal lesions inaccessible to ultrasound sonography. Methods: In a 60-year-old woman with an asymptomatic choroidal nevus, normal OCT was used to observe the macula and EDI-OCT to image the choroidal nevus that was inaccessible to ultrasound. The exact location of the lesion in the choroid and the dimensions of the nevus were measured. Results: The lesion was located in the superior macula, and the nevus was homogeneous in its reflectivity. We observed a thickened choroid delineated by the shadow cone behind it, measuring 1,376 × 325 µm in the larger vertical cut and 1,220 × 325 µm in the larger horizontal cut in an image with a 1:1 pixel mapping and automatic zoom. The macular profile and thickness were both normal. Conclusions: EDI-OCT appears to be an excellent technique for measuring choroidal nevi and all choroidal lesions accessible to OCT imaging by depicting their exact location in the choroid, their dimensions, and their demarcation from the surrounding healthy tissue, thus allowing for a more efficient and accurate follow-up.

  1. Immunohistochemical differentiation between inflammatory linear verrucous epidermal nevus (ILVEN) and psoriasis.

    NARCIS (Netherlands)

    Vissers, W.H.P.M.; Muys, L.; Erp, P.E.J. van; Jong, E.M.G.J. de; Kerkhof, P.C.M. van de

    2004-01-01

    Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder with a clinical and histological resemblance to psoriasis. In the past clinical and histological criteria have been defined. However, there remains a discussion as to whether ILVEN is a disease entity distinct from linear

  2. Giant Congenital Melanocytic Nevus with Developmental Dysplasia of Bilateral Hip: A Rare Association

    OpenAIRE

    Sutsungkokla Imchen; Sangita Ghosh; Surabhi Dayal; Nisha Marwah; Nidhi Jindal; Shikha Sangal

    2013-01-01

    Giant congenital melanocytic nevi are rare congenital disfiguring benign neoplasms with a risk of transformation to malignant melanoma. They often present with various extra-cutaneous features. Here, we describe a case of giant melanocytic nevus with developmental dysplasia of bilateral hip, a novel association.

  3. Giant congenital melanocytic nevus with developmental dysplasia of bilateral hip: a rare association.

    Science.gov (United States)

    Imchen, Sutsungkokla; Ghosh, Sangita; Dayal, Surabhi; Marwah, Nisha; Jindal, Nidhi; Sangal, Shikha

    2013-11-01

    Giant congenital melanocytic nevi are rare congenital disfiguring benign neoplasms with a risk of transformation to malignant melanoma. They often present with various extra-cutaneous features. Here, we describe a case of giant melanocytic nevus with developmental dysplasia of bilateral hip, a novel association.

  4. Coexistence of congenital giant melanocytic nevus of the scalp with cranial defect, poliosis, and hair loss.

    Science.gov (United States)

    Lee, Woo J; Lee, Sang M; Won, Chong H; Chang, Sung E; Lee, Mi W; Choi, Jee H; Moon, Kee C

    2013-01-01

    Congenital melanocytic nevi (CMN) are pigmented lesions presenting on the skin in approximately 1% of all newborns at or shortly after birth. CMN have been described as being associated with several anomalies, including cranial bone hypertrophy, scoliosis, and spina bifida. This is the first report to describe a giant congenital melanocytic nevus on the scalp associated with cranial involvement, poliosis, and alopecia.

  5. Immunohistochemical differentiation between inflammatory linear verrucous epidermal nevus (ILVEN) and psoriasis.

    NARCIS (Netherlands)

    Vissers, W.H.P.M.; Muys, L.; Erp, P.E.J. van; Jong, E.M.G.J. de; Kerkhof, P.C.M. van de

    2004-01-01

    Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder with a clinical and histological resemblance to psoriasis. In the past clinical and histological criteria have been defined. However, there remains a discussion as to whether ILVEN is a disease entity distinct from linear

  6. Persistent High Level of Urinary Tumor Marker Carbohydrate Antigen 19-9 in Prenatally Diagnosed Dysplastic Kidney

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    Reza Khorramirouz

    2014-01-01

    Full Text Available Tumor marker carbohydrate antigen 19-9 (CA 19-9 level has gained clinical significance in gastrointestinal malignancies and in various solid and cystic diseases. Dysplastic kidney is a congenital abnormality resulting from atresia of the ureteral bud during the embryogenesis which can be unilateral or bilateral. We report unilateral dysplastic kidney with extremely large cyst diagnosed by routine ultrasonography in the 32nd week of gestational age with high levels of CA 19-9 in cystic and amniotic fluid, as well as persistent high urinary levels of this tumor marker during the 1-year follow-up. Persistent high urinary CA 19-9 level even after cyst aspiration may be attributable to remained function of dysplastic kidney due to remained epithelial lining.

  7. [Features of biochemical changes in blood serum according to the form of progression of idiopathic and dysplastic coxarthrosis].

    Science.gov (United States)

    Gaĭko, G V; Magomedov, A M; Kalashnikov, A V; Kuzub, T A; Polishchuk, L V

    2013-01-01

    Carried out biochemical studies of blood serum (collagenase activity, glycosamineglicans and hydroxyproline fractions) of 72 patients with hip idiopathic osteoarthrosis and 30 patients with dysplastic osteoarthrosis of the iv-th stage in.accordance with J. H. Kellgren and J. S. Lavrence depending on the form of pathologic process progression. It has been proved that both with idiopathic and dysplastic coxartrosis metabolism of basic protein of osteochonrous tissue was broken both in catabolic and in synthetic phase of this process. The most deep changes 1 of biochemical values (collagenase, free and proteinbinded hydroxyprolines, the content of glycosamines) have been observed with rapid form of course progression of idiopathic and dysplastic coxarthrosis. Definite appropriateness promotesin.patients better understanding of coxarthrosis pathogenese, development of diagnostic and medical measures for patients with this severe orthopedic pathology.

  8. Evaluation of oral epithelial dysplastic features in oral lichen planus: The diagnostic difficulties

    Directory of Open Access Journals (Sweden)

    Bina Kashyap

    2015-01-01

    Full Text Available Background: Lichen planus (LP is chronic, mucocutaneous, autoimmune disease which can affect oral mucosa, skin, scalp, nails, and genital mucosa. The prevalence of oral LP (OLP varies with different geographic distribution. It presents symmetrical and bilateral or multiple lesions with varying clinical types accompanying with burning sensation and sometimes pain. Due to its potentially malignant nature, the evaluation of cell proliferation brings important information regarding diagnosis and prognosis of several types of cancer. Materials and Methods: Sixty-four cases of OLP were retrieved and were histologically assessed under 10× and 40× magnifications for valuation of the dysplastic features. The grading was done by the criteria followed by Odukoya et al. The data obtained were tabulated and subjected for the statistical analysis. Results: Epithelial dysplasias were observed in 60 cases of OLP which Grade I had 9 cases, Grade II 27 and Grade III 24 cases. Four cases of OLP did not show any dysplasia. The interrater reliability was found to be in strong or substantial agreement in assessing few of the dysplastic features. Male:female ratio was 1.2:1 with buccal mucosa being the most common site. Conclusion: Our study showed the importance to establish a correct diagnosis of OLP based on the history, clinical presentations, and histopathology. Furthermore, the long-term follow-up of the patient with OLP is mandatory when dysplasia is encountered on histopathology.

  9. 3D representation of the surface topography of normal and dysplastic trochlea using MRI.

    Science.gov (United States)

    Biedert, R; Sigg, A; Gal, I; Gerber, H

    2011-10-01

    The three-dimensional (3D) image of the articular surface topography of the normal and the dysplastic trochlea has not been defined. The aim of this study was to represent both the normal and dysplastic trochlear geometry in 3D using magnetic resonance imaging (MRI). Using the segmentation software program Amira (Mercury Computer Systems, Inc., Chelmsford, USA) we created 3D reconstructions of the distal femur bone and cartilage using MRI scans. Bone and cartilage of the distal femur were traced slice by slice in the acquisitioned dimension while the Amira program reconstructed the 3D model. This model was then transferred to the Rhinoceros 4.0 software (Robert McNeel & Associates, Seattle, USA) for measuring. Using this system a non-invasive 3D representation of the articular cartilage and bone of the normal trochlea and depiction of different types of trochlear dysplasia were possible. Potential advantages of these MRI measurements are assessment of the 3D articular cartilage of the whole trochlea and the bony contours on the same image, no imaging errors from joint malpositioning, no ionizing radiation, precise preoperative planning according to the documented pathomorphology, and comparison between the preoperative and the postoperative shapes. The disadvantages include higher costs compared to radiography or CT scans, and time consuming reconstruction, making them currently a research tool. Copyright © 2010 Elsevier B.V. All rights reserved.

  10. [Quantitative study on esophageal cytology. I. Quantitative morphologic studies of normal, dysplastic and malignant squamous cells].

    Science.gov (United States)

    Xiang, Y V

    1990-03-01

    On cytosmears of esophageal epithelium of individuals from high-risk area of esophageal cancer squamous epithelial cells, according to standard cytologic diagnostic criteria, can be categorized as normal, hyperplasia, severely dysplastic grade I and grade II, nearly-carcinoma and early carcinoma. Cytosmears from 60 patients, 10 for each category, were studied with a semiautomatic image analysis system. Thirteen morphologic parameters so obtained were further analyzed by computer-based stepwise regression and linear correlation analyses. The results showed that the following 5 parameters could be used to judge the nature of the cells, i.e. a) cytoplasmic area, b) cytoplasmic mean diameter, c) cytoplasmic form factor, d) nuclear form factor and e) N/C ratio. Comparing with cells of the other categories, values of the first 4 parameters for early cancer cells were decreased whereas that of the fifth parameter was significantly increased. From normal to hyperplastic and to dysplastic cells, the nuclear area and mean nuclear diameter were gradually increasing. Therefore, they were the major parameters in judging the degree of hyperplasia and dysplasia. These numerical features of morphologic quantitation conformed with the cytologic diagnostic criteria for cancer, hyperplasia and dysplasia under light microscope. It indicates that visual judgement is relatively accurate and application of the ocular micrometer to measure the cells would make this grading more objective.

  11. Progressive Metaplastic and Dysplastic Changes in Mouse Pancreas Induced by Cyclooxygenase-2 Overexpression

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    Jennifer K.L. Colby

    2008-08-01

    Full Text Available Cyclooxygenase-2 (COX-2 overexpression is an established factor linking chronic inflammation with metaplastic and neoplastic change in various tissues. We generated transgenic mice (BK5.COX-2 in which elevation of COX-2 and its effectors trigger a metaplasia-dysplasia sequence in exocrine pancreas. Histologic evaluation revealed a chronic pancreatitis-like state characterized by acinar-to-ductal metaplasia and a well-vascularized fibroinflammatory stroma that develops by 3 months. By 6 to 8 months, strongly dysplastic features suggestive of pancreatic ductal adenocarcinoma emerge in the metaplastic ducts. Increased proliferation, cellular atypia, and loss of normal cell/tissue organization are typical features in transgenic pancreata. Alterations in biomarkers associated with human inflammatory and neoplastic pancreatic disease were detected using immunohistochemistry. The abnormal pancreatic phenotype can be completely prevented by maintaining mice on a diet containing celecoxib, a well-characterized COX-2 inhibitor. Despite the high degree of atypia, only limited evidence of invasion to adjacent tissues was observed, with no evidence of distant metastases. However, cell lines derived from spontaneous lesions are aggressively tumorigenic when injected into syngeneic or nude mice. The progressive nature of the metaplastic/dysplastic changes observed in this model make it a valuable tool for examining the transition from chronic inflammation to neoplasia.

  12. Phakomatosis pigmentovascularis presenting with Sturge-Weber syndrome and Klippel-Trenaunay syndrome

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    Sumit Sen

    2015-01-01

    Full Text Available Phakomatosis pigmentovascularis (PPV is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ′a′ present only with cutaneous form and subtype ′b′ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination.

  13. Phakomatosis Pigmentovascularis Presenting with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

    Science.gov (United States)

    Sen, Sumit; Bala, Sanchaita; Halder, Chinmay; Ahar, Rahul; Gangopadhyay, Anusree

    2015-01-01

    Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination. PMID:25657402

  14. Randomized Phase II Trial of Lyophilized Strawberries in Patients with Dysplastic Precancerous Lesions of the Esophagus

    Science.gov (United States)

    Chen, Tong; Yan, Fei; Qian, Jiaming; Guo, Mingzhou; Zhang, Hongbing; Tang, Xiaofei; Chen, Fang; Stoner, Gary D.; Wang, Xiaomin

    2016-01-01

    Dysplasia is a histologic precursor of esophageal squamous cell carcinoma (SCC). We previously showed that dietary freeze-dried, or lyophilized, strawberry powder inhibits N-nitrosomethylbenzylamine-induced SCC in the rat esophagus. On the basis of this observation, we conducted a randomized (noncomparative) phase II trial in China to investigate the effects of two doses of freeze-dried strawberries in patients with esophageal dysplastic lesions in a high-risk area for esophageal cancer. We randomly assigned 75 patients identified by endoscopy to have dysplastic esophageal premalignant lesions to receive freeze-dried strawberry powder at either 30 g/d (37 patients) or 60 g/d (38 patients) for six months; the powder was mixed with water and drunk. After six months, we assessed the changes in histologic grade of these lesions (primary endpoint) in a blinded fashion. The dose of 30 g/d, did not significantly affect histology or any other measured parameter. The dose of 60 g/d, however, reduced the histologic grade of dysplastic premalignant lesions in 29 (80.6%) of the 36 patients at this dose who were evaluated for histology (P < 0.0001). The strawberry powder was well tolerated, with no toxic effects or serious adverse events. Strawberries (60 g/d) also reduced protein expression levels of inducible nitric oxide synthase (iNOS) by 79.5% (P < 0.001), cyclooxygenase-2 (COX-2) by 62.9% (P < 0.001), phospho-nuclear factor kappa B (NFκB)-p65 (pNFκB-p65) by 62.6% (P < 0.001), and phospho-S6 (pS6) by 73.2% (P < 0.001). Freeze-dried strawberries (60 g/d) also significantly inhibited the Ki-67 labeling index by 37.9% (P = 0.023). Our present results indicate the potential of freeze-dried strawberry powder for preventing human esophageal cancer, supporting further clinical testing of this natural agent in this setting. PMID:22135048

  15. Congenital giant megaureter associated with ipsilateral multicystic dysplastic kidney in newborn

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    Rajendran Ramaswamy

    2016-01-01

    Full Text Available Congenital giant megaureter presents as abdominal mass and impose diagnostic difficulties. It can be associated with other upper urinary tract anomalies. A female newborn with antenatal diagnosis of polycystic kidneys was admitted at birth due to lower abdominal mass. Ultrasound and CT scans diagnosed a multiloculated cystic lesion in the mid and lower abdomen along with right side multicystic kidney. At laparotomy, an extaperitoneal, lobulated cystic swelling was found due to rightside giant megaureter. Its lower end was of normal caliber and orthotopic. End cutaneous ureterostomy was done. Intravenous urogram and isotope renograms showed nonfunctioning right kidney. She also had grade II vesicoureteral reflux on left side. Child suffered urinary infection twice. At 9m age, right nephroureterectomy was done. Histopathologic examination was consistent with cystic renal dysplasia and dilated ureter. This is the first case report of giant megaureter associated with ipsilateral multicystic dysplastic kidney in newborn.

  16. RABSON-MENDENHALL SYNDROME: A CASE REPORT

    OpenAIRE

    Alaei, Mohammad Reza; MIRJAVADI, Seyed Alireza; Shiari, Reza

    2010-01-01

    Rabson-Mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this i...

  17. Roentgenologic features of the Meckel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Seppaenen, U.; Herva, R.

    1983-09-21

    The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs Microcephaly with an occipital bone defect and encephalocele or hydrocephaly (1/6), short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases.

  18. The miR-200 family is increased in dysplastic lesions in ulcerative colitis patients

    Science.gov (United States)

    Lewis, Amy; Felice, Carla; Kumagai, Tomoko; Lai, Cecilia; Singh, Kriti; Jeffery, Rosemary R.; Feakins, Roger; Giannoulatou, Eleni; Armuzzi, Alessandro; Jawad, Noor; Lindsay, James O.

    2017-01-01

    Background Colorectal cancer (CRC) is a life-threatening complication of ulcerative colitis (UC), and patients are routinely screened for the development of precancerous lesions (dysplasia). However, rates of CRC development in patients with confirmed low-grade dysplasia vary widely between studies, suggesting a large degree of heterogeneity between these lesions that is not detectable macroscopically. A better understanding of the underlying molecular changes that occur in dysplasia will help to identify lesions at higher risk of malignancy. MicroRNAs (miRNAs) post-transcriptionally regulate protein expression and cell-signalling networks. Aberrant miRNA expression is a feature of sporadic CRC but much less is known about the changes that occur in dysplasia and in UC. Methods Comprehensive microRNA profiling was performed on RNA extracted from UC dysplastic lesions (n = 7) and UC controls (n = 10). The expression of miRNAs in UC post inflammatory polyps (n = 7) was also assessed. Candidate miRNAs were further validated by qPCR, and miRNA in situ hybridization. Serum levels of miRNAs were also assessed with a view to identification of non-invasive biomarkers of dysplasia. Results UC dysplasia was associated with a shift in miRNA expression profiles that was not seen in inflammatory polyps. In particular, levels of miR-200b-3p were increased in dysplasia, and this miRNA was localised to epithelial cells in dysplastic lesions and in UC cancers. No changes in miRNA levels were detected in the serum. Conclusion UC-Dysplasia is linked to altered miRNA expression in the mucosa and elevated miR-200b-3p levels. PMID:28288169

  19. Deriving and testing of dysplastic murine hepatocytes: A new platform in liver cancer research.

    Science.gov (United States)

    Pok, Sharon; Vohra, Harpreet; Wehbe, Charbel; Barn, Vanessa A; Arfianti, Evi; Dan, Yock-Young; Farrell, Geoffrey C; Teoh, Narci C

    2017-07-01

    Dysplastic hepatocytes (DH) represent altered hepatocytes with potential for malignant transformation. To date, most research on pathways to hepatocarcinogenesis has focused on use of "hepatoma" cell lines derived from hepatocellular carcinoma (HCC). We describe a novel technique for deriving/culturing DH and demonstrate their utility for functional studies in vitro, compared to primary hepatocytes (PH) and HCC. PH and DH were prepared by portal vein collagenase perfusion from C57BL/6J mice. DH were subsequently subjected to FACS. HCC from diethylnitrosamine (DEN)-injected mice were mechanically isolated. Cell cycle analyses were performed by flow cytometry and PCNA immunohistochemistry. To establish utility of DH, we studied pathways of p53 turnover, apoptosis and cell proliferation using pfithrin-α (PFT) and nutlin-3. Like PH, DH were minimally proliferative compared to HCC. Only 30±0.03% of DH were in G2/M phase versus 51±0.01% of HCC; this difference corroborated with PCNA-immunostaining of dysplastic nodules from DEN-injected mice. In DH and HCC, nutlin-3 suppressed p53 mRNA, induced p53 and mdm2 activation but paradoxically resulted in increased anti-apoptotic and proliferative activity. Primary murine DH display distinctive biological characteristics compared with PH and HCC. As an intermediate cell type to HCC, they offer a new pathobiologically relevant primary cell culture system with which to interrogate the molecular changes in hepatocarcinogenesis. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Oral Congenital Melanocytic Nevus: A Rare Case Report and Review of the Literature.

    Science.gov (United States)

    Marangon Júnior, Helvécio; Souza, Paulo Eduardo Alencar; Soares, Rodrigo Villamarim; de Andrade, Bruno Augusto Benevenuto; de Almeida, Oslei Paes; Horta, Martinho Campolina Rebello

    2015-12-01

    Melanocytic nevi are congenital or acquired benign proliferations of cells of melanocytic origin. Oral congenital melanocytic nevi are rare, and only a few cases have been reported in the literature. The purpose of this study is to present the clinical, histological and immunohistochemical features of an oral congenital melanocytic nevus in a 16-year-old female with an 11-year follow-up and to review the pertinent literature. The reported case is the fifth well-documented case report of oral congenital melanocytic nevus in the English literature and the first with a long period of follow-up, thereby making it an important contribution to the knowledge regarding this uncommon oral mucosa lesion.

  1. Genetic evolution of nevus of Ota reveals clonal heterogeneity acquiring BAP1 and TP53 mutations.

    Science.gov (United States)

    Vivancos, Ana; Caratú, Ginevra; Matito, Judit; Muñoz, Eva; Ferrer, Berta; Hernández-Losa, Javier; Bodet, Domingo; Pérez-Alea, Mileidys; Cortés, Javier; Garcia-Patos, Vicente; Recio, Juan A

    2016-03-01

    Melanoma presents molecular alterations based on its anatomical location and exposure to environmental factors. Due to its intrinsic genetic heterogeneity, a simple snapshot of a tumor's genetic alterations does not reflect the tumor clonal complexity or specific gene-gene cooperation. Here, we studied the genetic alterations and clonal evolution of a unique patient with a Nevus of Ota that developed into a recurring uveal-like dermal melanoma. The Nevus of Ota and ulterior lesions contained GNAQ mutations were c-KIT positive, and tumors showed an increased RAS pathway activity during progression. Whole-exome sequencing of these lesions revealed the acquisition of BAP1 and TP53 mutations during tumor evolution, thereby unmasking clonal heterogeneity and allowing the identification of cooperating genes within the same tumor. Our results highlight the importance of studying tumor genetic evolution to identify cooperating mechanisms and delineate effective therapies.

  2. Dermoscopy of verrucous epidermal nevus: large brown circles as a novel feature for diagnosis.

    Science.gov (United States)

    Carbotti, Mattia; Coppola, Rosa; Graziano, Antonio; Verona Rinati, Maria; Paolilli, Francesco Luigi; Zanframundo, Salvatore; Panasiti, Vincenzo

    2016-06-01

    The epidermal nevus is a hamartomatous proliferation of the epithelium that can involve keratinocytes, sebaceous glands, the pilosebaceous unit, and eccrine or apocrine glands. It occurs in one in 1000 live births and most commonly presents as the verrucous type. Dermoscopy is a non-invasive technique commonly used to differentiate between melanocytic and non-melanocytic lesions. This study was performed to analyze dermoscopic aspects of verrucous epidermal nevi, which have not previously been described. Dermoscopic analyses of eight different verrucous epidermal nevi were conducted. Each lesion was excised, and its diagnosis was histopathologically confirmed. In non-melanocytic lesions, a new dermoscopic feature of large brown circles was observed. This characteristic is useful in the diagnosis of verrucous epidermal nevi. Large brown circles represent a specific dermoscopic feature for the diagnosis of verrucous epidermal nevus. © 2015 The International Society of Dermatology.

  3. Ichthyosis hystrix disease or verrucous epidermal nevus (a retrospective analysis of 20-year observation

    Directory of Open Access Journals (Sweden)

    V. D. El'kin

    2017-01-01

    Full Text Available We present a  clinical case of ichthyosis hystrix, a rare genetic ichthyosiform dermatosis. Specifics of the disease are related to the complexity of differential diagnosis and verification of the diagnosis, because clinical manifestation of ichthyosis hystrix is similar with that of verrucous epidermal nevus. Clinical particulars of both nosologies are characterized by bizarre and widespread skin lesions of spicular hyperkeratotic growth, located along Blaschko lines. The exclusive feature of the clinical case described is a  long-term (20 years clinical and laboratory monitoring of the patient. The literature review provides brief information on etiology, pathogenesis, clinical features, differential diagnosis, and pathomorphology of ichthyosis hystrix and verrucous epidermal nevus.

  4. Cellular Blue Nevus Diagnosed following Excision of Melanoma: A Challenge in Diagnosis

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    Nives Jonjić

    2016-01-01

    Full Text Available A case of a 41-year-old woman with a history of nodular melanoma (NM, associated with an indurated dome-shaped blue-black nodule with a diameter of 1.2 cm in the gluteal region, is presented. Clinical diagnosis of the lesion, present from birth, was blue nevus. Recently, the nodule has been showing a mild enlargement and thus complete resection was performed. Histological analysis revealed a pigmented lesion with an expansive pattern of extension into the dermis and the subcutaneous adipose tissue. The lesion displayed an alveolar pattern as well as a pigmented dendritic cell pattern. The histology was consistent with cellular blue nevus (CBN; however, the history of NM which was excised one year earlier, as well as the clinical information about the slow growing lesion, included a differential diagnosis of CBN, borderline melanocytic tumor, and malignant blue nevus. Additional immunohistochemical (HMB-45, p16, and Ki-67 and molecular (BRAF V600E mutation analyses were performed on both lesions: the CBN-like and the previously excised NM. Along with lesion history and histological analyses, p16 staining and BRAF were useful diagnostic tools for confirming the benign nature of CBN in this case.

  5. Comparison of acquired bilateral nevus of Ota-like macules in men and women

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    Woo Jin Lee

    2014-01-01

    Full Text Available Background: The clinical and histopathological characteristics of acquired bilateral nevus of Ota-like macules in men are poorly documented due to its rarity. Aims: To compare the clinical and histopathological characteristics of acquired bilateral nevus of Ota-like macules in men with the condition in women. Methods: We studied 11 men and 62 women, all with a clinical diagnosis of acquired bilateral nevus of Ota-like macules. Biopsies were taken from 5 men and 10 women and their clinical and histopathological features were compared. Results: The most frequently affected site in men was the forehead [8 (73% out of 11 patients]. Lesions on the forehead were more common in men than women (P = 0.001. In contrast to women, there was no apparent tendency of the lesions to become more blue with age in men. Concurrent melasma was observed in 14 (23% out of 62 women, but not in men. Extra-facial acquired dermal melanocytosis was noted in 2 (18% out of 11 men and in none of the 62 women. Conclusion: Significant differences were noted between men and women in the appearance of concurrent pigmentary lesions and the distribution of lesions. Extra-facial acquired dermal melanocytosis was noted in men.

  6. Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.

    Science.gov (United States)

    Rijntjes-Jacobs, Esther G J; Lopriore, Enrico; Steggerda, Sylke J; Kant, Sarina G; Walther, Frans J

    2010-11-01

    The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation. © 2010 Wiley-Liss, Inc.

  7. Protein p16 as a marker of dysplastic and neoplastic alterations in cervical epithelial cells

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    Spitkovsky Dimitry

    2004-08-01

    Full Text Available Abstract Background Cervical carcinomas are second most frequent type of women cancer. Success in diagnostics of this disease is due to the use of Pap-test (cytological smear analysis. However Pap-test gives significant portion of both false-positive and false-negative conclusions. Amendments of the diagnostic procedure are desirable. Aetiological role of papillomaviruses in cervical cancer is established while the role of cellular gene alterations in the course of tumor progression is less clear. Several research groups including us have recently named the protein p16INK4a as a possible diagnostic marker of cervical cancer. To evaluate whether the specificity of p16INK4a expression in dysplastic and neoplastic cervical epithelium is sufficient for such application we undertook a broader immunochistochemical registration of this protein with a highly p16INK4a-specific monoclonal antibody. Methods Paraffin-embedded samples of diagnostic biopsies and surgical materials were used. Control group included vaginal smears of healthy women and biopsy samples from patients with cervical ectopia. We examined 197 samples in total. Monoclonal antibody E6H4 (MTM Laboratories, Germany was used. Results In control samples we did not find any p16INK4a-positive cells. Overexpression of p16INK4a was detected in samples of cervical dysplasia (CINs and carcinomas. The portion of p16INK4a-positive samples increased in the row: CIN I – CIN II – CIN III – invasive carcinoma. For all stages the samples were found to be heterogeneous with respect to p16INK4a-expression. Every third of CINs III and one invasive squamous cell carcinoma (out of 21 analyzed were negative. Conclusions Overexpression of the protein p16INK4a is typical for dysplastic and neoplastic epithelium of cervix uteri. However p16INK4a-negative CINs and carcinomas do exist. All stages of CINs and carcinomas analyzed are heterogeneous with respect to p16INK4a expression. So p16INK4a-negativity is

  8. Bosworth hip shelf arthroplasty in adult dysplastic hips: ten to twenty three year results.

    Science.gov (United States)

    Bartoníček, Jan; Vávra, Jaroslav; Chochola, Antonín

    2012-12-01

    Hip shelf arthroplasty is currently considered to be a salvage procedure. The aim of the study is to present outcomes of Bosworth hip shelf arthroplasty in adolescent dysplastic hips with a minimum ten-year follow-up. The basic group comprised 25 hips in 18 patients with the mean age of 31 years (range, 16-52) at the time of operation. Subgroup A included 20 hips that were evaluated prior to operation as spherical, centric hips without osteoarthritic changes (acetabular dysplasia). The heterogeneous subgroup B comprised five hips. Of these, three hips were evaluated as aspheric, without osteoarthritic changes, and two hips as aspheric, with osteoarthritic changes of grade 2 according to Tönnis. In addition, two hips in subgroup B were evaluated as decentred (subluxated), one hip without and one hip with osteoarthritic changes. The mean follow-up was 15 years (range, ten-23). In subgroup A, the positive effect of operation had lasted at the time of the final follow-up for ten to 22 years postoperatively (average follow-up 14 years) in 19 hips. Only one female patient, 46 years old at the time of operation, developed hip osteoarthritis within ten years, that was treated by THA. In subgroup B, a lasting positive effect of operation was recorded in two cases at the time of the final follow-up (12 and 15 years). The third female patient with an aspheric and decentred hip developed severe hip osteoarthritis 21 years after shelf procedure that was treated by THA. In two patients who had hip osteoarthritis already before the operation, the positive effect of the shelf procedure survived over 13 and 20 years. Although hip osteoarthritis progressed, THA was performed as late as 15 and 23 years after the shelf procedure. The mean Harris hip score in 21 hips with a still functional hip shelf was 68 (range, 56-82) before and 90 (range, 76-100) after the surgery. The best outcomes of Bosworth hip shelf arthroplasty may be expected in a dysplastic spherical centred hip

  9. Ultrasound versus Magnetic Resonance Arthrography in Acetabular Labral Tear Diagnostics: A Prospective Comparison in 20 Dysplastic Hips

    Energy Technology Data Exchange (ETDEWEB)

    Troelsen, A.; Jacobsen, S.; Bolvig, L.; Gelineck, J.; Roemer, L.; Soeballe, K. [Orthopedic Research Unit and Dept. of Radiology, Univ. Hospital of Aarhus, A arhus (Denmark)

    2007-11-15

    Background: Acetabular labral tears are highly associated with hip dysplasia. Magnetic resonance arthrography (MR arthrography) is the expensive and time-consuming contemporary gold-standard method in the radiological assessment of acetabular labral tears. Purpose: To assess the diagnostic ability of noninvasive ultrasound (US) examination compared to MR arthrography in diagnosing acetabular labral tears in dysplastic hip joints. Material and Methods: The study compared US examination and MR arthrography diagnosis of labral tears in 20 consecutively referred dysplastic hip joints. Results: The ability to diagnose acetabular labral tears upon US examination was calculated: sensitivity 44%, specificity 75%, positive predictive value 88%, and negative predictive value 25%. Conclusion: The ability of US examination in diagnosing acetabular labral tears is not yet good enough. The technique is still to be developed, and more experience, especially with the interpretation of US examinations, is needed.

  10. Outcomes of Radiofrequency Ablation for Dysplastic Barrett’s Esophagus: A Comprehensive Review

    Directory of Open Access Journals (Sweden)

    Carmelo Luigiano

    2016-01-01

    Full Text Available Barrett’s esophagus is a condition in which the normal squamous lining of the esophagus has been replaced by columnar epithelium containing intestinal metaplasia induced by recurrent mucosal injury related to gastroesophageal reflux disease. Barrett’s esophagus is a premalignant condition that can progress through a dysplasia-carcinoma sequence to esophageal adenocarcinoma. Multiple endoscopic ablative techniques have been developed with the goal of eradicating Barrett’s esophagus and preventing neoplastic progression to esophageal adenocarcinoma. For patients with high-grade dysplasia or intramucosal neoplasia, radiofrequency ablation with or without endoscopic resection for visible lesions is currently the most effective and safe treatment available. Recent data demonstrate that, in patients with Barrett’s esophagus and low-grade dysplasia confirmed by a second pathologist, ablative therapy results in a statistically significant reduction in progression to high-grade dysplasia and esophageal adenocarcinoma. Treatment of dysplastic Barrett’s esophagus with radiofrequency ablation results in complete eradication of both dysplasia and of intestinal metaplasia in a high proportion of patients with a low incidence of adverse events. A high proportion of treated patients maintain the neosquamous epithelium after successful treatment without recurrence of intestinal metaplasia. Following successful endoscopic treatment, endoscopic surveillance should be continued to detect any recurrent intestinal metaplasia and/or dysplasia. This paper reviews all relevant publications on the endoscopic management of Barrett’s esophagus using radiofrequency ablation.

  11. Neuropilin 1 Receptor Is Up-Regulated in Dysplastic Epithelium and Oral Squamous Cell Carcinoma.

    Science.gov (United States)

    Shahrabi-Farahani, Shokoufeh; Gallottini, Marina; Martins, Fabiana; Li, Erik; Mudge, Dayna R; Nakayama, Hironao; Hida, Kyoko; Panigrahy, Dipak; D'Amore, Patricia A; Bielenberg, Diane R

    2016-04-01

    Neuropilins are receptors for disparate ligands, including proangiogenic factors such as vascular endothelial growth factor and inhibitory class 3 semaphorin (SEMA3) family members. Differentiated cells in skin epithelium and cutaneous squamous cell carcinoma highly express the neuropilin-1 (NRP1) receptor. We examined the expression of NRP1 in human and mouse oral mucosa. NRP1 was significantly up-regulated in oral epithelial dysplasia and oral squamous cell carcinoma (OSCC). NRP1 receptor localized to the outer suprabasal epithelial layers in normal tongue, an expression pattern similar to the normal skin epidermis. However, dysplastic tongue epithelium and OSCC up-regulated NRP1 in basal and proliferating epithelial layers, a profile unseen in cutaneous squamous cell carcinoma. NRP1 up-regulation is observed in a mouse carcinogen-induced OSCC model and in human tongue OSCC biopsies. Human OSCC cell lines express NRP1 protein in vitro and in mouse tongue xenografts. Sites of capillary infiltration into orthotopic OSCC tumors correlate with high NRP1 expression. HSC3 xenografts, which express the highest NRP1 levels of the cell lines examined, showed massive intratumoral lymphangiogenesis. SEMA3A inhibited OSCC cell migration, suggesting that the NRP1 receptor was bioactive in OSCC. In conclusion, NRP1 is regulated in the oral epithelium and is selectively up-regulated during epithelial dysplasia. NRP1 may function as a reservoir to sequester proangiogenic ligands within the neoplastic compartment, thereby recruiting neovessels toward tumor cells.

  12. Outcomes of Radiofrequency Ablation for Dysplastic Barrett's Esophagus: A Comprehensive Review

    Science.gov (United States)

    Iabichino, Giuseppe; Arena, Monica; Consolo, Pierluigi; Morace, Carmela; Opocher, Enrico; Mangiavillano, Benedetto

    2016-01-01

    Barrett's esophagus is a condition in which the normal squamous lining of the esophagus has been replaced by columnar epithelium containing intestinal metaplasia induced by recurrent mucosal injury related to gastroesophageal reflux disease. Barrett's esophagus is a premalignant condition that can progress through a dysplasia-carcinoma sequence to esophageal adenocarcinoma. Multiple endoscopic ablative techniques have been developed with the goal of eradicating Barrett's esophagus and preventing neoplastic progression to esophageal adenocarcinoma. For patients with high-grade dysplasia or intramucosal neoplasia, radiofrequency ablation with or without endoscopic resection for visible lesions is currently the most effective and safe treatment available. Recent data demonstrate that, in patients with Barrett's esophagus and low-grade dysplasia confirmed by a second pathologist, ablative therapy results in a statistically significant reduction in progression to high-grade dysplasia and esophageal adenocarcinoma. Treatment of dysplastic Barrett's esophagus with radiofrequency ablation results in complete eradication of both dysplasia and of intestinal metaplasia in a high proportion of patients with a low incidence of adverse events. A high proportion of treated patients maintain the neosquamous epithelium after successful treatment without recurrence of intestinal metaplasia. Following successful endoscopic treatment, endoscopic surveillance should be continued to detect any recurrent intestinal metaplasia and/or dysplasia. This paper reviews all relevant publications on the endoscopic management of Barrett's esophagus using radiofrequency ablation. PMID:28070182

  13. Ultrasonographic Diagnosis of a Uterine Fusion Anomaly Associated with Neonates with Unilateral, Ectopic, Multicystic, Dysplastic Kidney

    Energy Technology Data Exchange (ETDEWEB)

    Han, Byoung Hee; Lee, Kyung Sang; Song, Mi Jin; Moon, Min Hwan; Lee, Young Ho [Kwandong University College of Medicine, Cheil General Hospital and Women' s Healthcare Center, Seoul (Korea, Republic of)

    2010-12-15

    The purpose of this paper is to reinforce the necessity of careful ultrasonographic evaluation of the uterus to detect uterine fusion anomaly in female neonates who were detected as having a unilateral, ectopic, multicystic, dysplastic kidney (MCDK) on fetal US. We detected eight unilateral ectopic MCDK on fetal US of second trimester and neonatal ultrasonography between October 2003 and February 2009; neonatal US were taken at 2 to 10 days after birth for the initial evaluation of MCDK. Uterine fusion anomaly, vaginal obstruction and other associated urogenital anomalies were evaluated by neonatal US. Four of eight female neonates with unilateral ectopic MCDK showed a double uterus on neonatal US. They all showed hemivaginal fluid collection. Obstruction of the hemivagina and vaginal septum were depicted in two cases. A perivaginal cyst was seen in three cases, and in two cases the cyst was connected with the vaginal cavity. An ipsilateral perivaginal tubular structure was seen in one case, which was indicative of a ureteral remnant. There was no associated anomaly in the contralateral kidney except for a tiny cortical cyst in one case. The careful ultrasonographic evaluation of the uterus is important in female neonates who showed the ectopic MCDK on fetal US. In addition, it may help to detect the fusion anomaly that is otherwise difficult to detect on fetal US and to devise a treatment plan to prevent upcoming complications

  14. Reliability of the Crowe und Hartofilakidis classifications used in the assessment of the adult dysplastic hip

    Energy Technology Data Exchange (ETDEWEB)

    Decking, Ralf; Brunner, Alexander; Puhl, Wolfhart [University of Ulm, Orthopaedic Department, RKU, Ulm (Germany); Decking, Jens [Johannes Gutenberg University School of Medicine, Department of Orthopaedic Surgery, Mainz (Germany); Guenther, Klaus-Peter [University of Ulm, Orthopaedic Department, RKU, Ulm (Germany); University-Hospital Carl Gustav Carus, Department of Orthopaedics, Dresden (Germany)

    2006-05-15

    To assess the inter-observer and intra-observer reliability of two commonly used radiographic classification systems in the evaluation of hip dysplasia in skeletally mature adults. Three observers with different levels of training independently classified 62 dysplastic hips on 51 standard anteriorposterior pelvis radiographs according to the criteria defined by Crowe and by Hartofilakidis. To assess intra-observer reliability, the same radiographs were reviewed 3 months later by the same observers. At the time of the radiographic examination, the mean age of the 51 patients had been 54 years (range 18-82 years). A high correlation concerning the inter- and intra-observer reliability of both systems was demonstrated. Inter-observer reliability displayed a weighted kappa coefficient of 0.82 for the Crowe and 0.75 for the Hartofilakidis classification. Intra-observer reliability showed a kappa coefficient of 0.86 and 0.79, respectively. Both classification systems can be recommended to compare collectives of adult patients with congenital dysplasia of the hip. However, for future clinical practice, it would be advisable to agree on one universally accepted system as a standard in the literature. (orig.)

  15. Cartilage contact pressure elevations in dysplastic hips: a chronic overload model

    Directory of Open Access Journals (Sweden)

    Grosland Nicole M

    2006-10-01

    Full Text Available Abstract Background Developmental dysplasia of the hip (DDH is a condition in which bone growth irregularities subject articular cartilage to higher mechanical stresses, increase susceptibility to subluxation, and elevate the risk of early osteoarthritis. Study objectives were to calculate three-dimensional cartilage contact stresses and to examine increases of accumulated pressure exposure over a gait cycle that may initiate the osteoarthritic process in the human hip, in the absence of trauma or surgical intervention. Methods Patient-specific, non-linear, contact finite element models, constructed from computed tomography arthrograms using a custom-built meshing program, were subjected to normal gait cycle loads. Results Peak contact pressures for dysplastic and asymptomatic hips ranged from 3.56 – 9.88 MPa. Spatially discriminatory cumulative contact pressures ranged from 2.45 – 6.62 MPa per gait cycle. Chronic over-pressure doses, for 2 million cycles per year over 20 years, ranged from 0.463 – 5.85 MPa-years using a 2-MPa damage threshold. Conclusion There were significant differences between the normal control and the asymptomatic hips, and a trend towards significance between the asymptomatic and symptomatic hips of patients afflicted with developmental dysplasia of the hip. The magnitudes of peak cumulative contact pressure differed between apposed articular surfaces. Bone irregularities caused localized pressure elevations and an upward trend between chronic over-pressure exposure and increasing Severin classification.

  16. Neuropilin 1 Receptor Is Up-Regulated in Dysplastic Epithelium and Oral Squamous Cell Carcinoma

    Science.gov (United States)

    Shahrabi-Farahani, Shokoufeh; Gallottini, Marina; Martins, Fabiana; Li, Erik; Mudge, Dayna R.; Nakayama, Hironao; Hida, Kyoko; Panigrahy, Dipak; D'Amore, Patricia A.; Bielenberg, Diane R.

    2017-01-01

    Neuropilins are receptors for disparate ligands, including proangiogenic factors such as vascular endothelial growth factor and inhibitory class 3 semaphorin (SEMA3) family members. Differentiated cells in skin epithelium and cutaneous squamous cell carcinoma highly express the neuropilin-1 (NRP1) receptor. We examined the expression of NRP1 in human and mouse oral mucosa. NRP1 was significantly up-regulated in oral epithelial dysplasia and oral squamous cell carcinoma (OSCC). NRP1 receptor localized to the outer suprabasal epithelial layers in normal tongue, an expression pattern similar to the normal skin epidermis. However, dysplastic tongue epithelium and OSCC up-regulated NRP1 in basal and proliferating epithelial layers, a profile unseen in cutaneous squamous cell carcinoma. NRP1 up-regulation is observed in a mouse carcinogen-induced OSCC model and in human tongue OSCC biopsies. Human OSCC cell lines express NRP1 protein in vitro and in mouse tongue xenografts. Sites of capillary infiltration into orthotopic OSCC tumors correlate with high NRP1 expression. HSC3 xenografts, which express the highest NRP1 levels of the cell lines examined, showed massive intratumoral lymphangiogenesis. SEMA3A inhibited OSCC cell migration, suggesting that the NRP1 receptor was bioactive in OSCC. In conclusion, NRP1 is regulated in the oral epithelium and is selectively up-regulated during epithelial dysplasia. NRP1 may function as a reservoir to sequester proangiogenic ligands within the neoplastic compartment, thereby recruiting neovessels toward tumor cells. PMID:26877262

  17. Discrimination of Dysplastic Nevi from Common Melanocytic Nevi by Cellular and Molecular Criteria.

    Science.gov (United States)

    Mitsui, Hiroshi; Kiecker, Felix; Shemer, Avner; Cannizzaro, Maria Vittoria; Wang, Claire Q F; Gulati, Nicholas; Ohmatsu, Hanako; Shah, Kejal R; Gilleaudeau, Patricia; Sullivan-Whalen, Mary; Cueto, Inna; McNutt, Neil Scott; Suárez-Fariñas, Mayte; Krueger, James G

    2016-10-01

    Dysplastic nevi (DNs), also known as Clark's nevi or atypical moles, are distinguished from common melanocytic nevi by variegation in pigmentation and clinical appearance, as well as differences in tissue patterning. However, cellular and molecular differences between DNs and common melanocytic nevi are not completely understood. Using cDNA microarray, quantitative RT-PCR, and immunohistochemistry, we molecularly characterized DNs and analyzed the difference between DNs and common melanocytic nevi. A total of 111 probesets (91 annotated genes, fold change > 2.0 and false discovery rate DNs was altered differentiation and activation of epidermal keratinocytes with increased expression of hair follicle-related molecules (keratin 25, trichohyalin, ribonuclease, RNase A family, 7) and inflammation-related molecules (S100A7, S100A8) at both genomic and protein levels. The immune microenvironment of DNs was characterized by an increase of T helper type 1 (IFNγ) and T helper type 2 (IL13) cytokines as well as an upregulation of oncostatin M and CXCL1. DUSP3, which regulates cellular senescence, was identified as one of the disease discriminative genes between DNs and common melanocytic nevi by three independent statistical approaches and its altered expression was confirmed by immunohistochemistry. The molecular and cellular changes in which the epidermal-melanin unit undergoes follicular differentiation as well as upregulation of defined cytokines could drive complex immune, epidermal, and pigmentary alterations.

  18. [Skin graft combined with thorax wire fastening for repairing postoperative coloboma After resection of chest back giant nevus].

    Science.gov (United States)

    Zhao, Weimin; Dai, Tao; Yuan, Depin; Zhang, Gongbao

    2011-11-01

    To observe the effectiveness of skin graft combined with thorax wire fastening for repairing postoperative coloboma after resection of chest back giant nevus. Between June 2007 and October 2010, 17 cases of chest back giant nevus were treated. There were 7 males and 10 females, aged from 3 years and 6 months to 15 years (mean, 8 years). The size of giant nevus was 20 cm x 12 cm to 60 cm x 50 cm. Two cases of them were ever treated by laser, while the others were never treated. The check before operation showed ulcer of the skin and effusion in 2 cases, hard skin in 3 cases, hair growth in 7 cases, and normal in 5 cases. Five cases had serious itch. After giant nevus was cut off, thorax wire was fastened to reduce the wound area, and then the intermediate split thickness skin graft of thigh was used to repair the wound. Comprehensive anti-scar treatment was given postoperatively. The wound size was (2 110.74 +/- 725.69) cm2 after resection of giant nevus, and was (1 624.94 +/- 560.57) cm2 after thorax wire fastening, showing significant difference (t = 9.006, P = 0.001). All the grafting skin survived; the incision and wound at donor site healed by first intention. The patients were followed up 6 months to 2 years (mean, 13 months). No scar proliferation or contracture occurred. The skin color and elasticity were similar to the normal skin; the nipple, navel, and other local apparatus were not shifted after operation. It can reduce donor site of skin and postoperative scar, and achieve satisfactory appearance to cover the wound by skin graft combined with thorax wire fastening after chest back giant nevus was cut off.

  19. The Alteration of the Epidermal Basement Membrane Complex of Human Nevus Tissue and Keratinocyte Attachment after High Hydrostatic Pressurization

    Directory of Open Access Journals (Sweden)

    Naoki Morimoto

    2016-01-01

    Full Text Available We previously reported that human nevus tissue was inactivated after high hydrostatic pressure (HHP higher than 200 MPa and that human cultured epidermis (hCE engrafted on the pressurized nevus at 200 MPa but not at 1000 MPa. In this study, we explore the changes to the epidermal basement membrane in detail and elucidate the cause of the difference in hCE engraftment. Nevus specimens of 8 mm in diameter were divided into five groups (control and 100, 200, 500, and 1000 MPa. Immediately after HHP, immunohistochemical staining was performed to detect the presence of laminin-332 and type VII collagen, and the specimens were observed by transmission electron microscopy (TEM. hCE was placed on the pressurized nevus specimens in the 200, 500, and 1000 MPa groups and implanted into the subcutis of nude mice; the specimens were harvested at 14 days after implantation. Then, human keratinocytes were seeded on the pressurized nevus and the attachment was evaluated. The immunohistochemical staining results revealed that the control and 100 MPa, 200 MPa, and 500 MPa groups were positive for type VII collagen and laminin-332 immediately after HHP. TEM showed that, in all of the groups, the lamina densa existed; however, anchoring fibrils were not clearly observed in the 500 or 1000 MPa groups. Although the hCE took in the 200 and 500 MPa groups, keratinocyte attachment was only confirmed in the 200 MPa group. This result indicates that HHP at 200 MPa is preferable for inactivating nevus tissue to allow its reuse for skin reconstruction in the clinical setting.

  20. Multimodal Raman-fluorescence spectroscopy of formalin fixed samples is able to discriminate brain tumors from dysplastic tissue

    Science.gov (United States)

    Anand, Suresh; Cicchi, Riccardo; Giordano, Flavio; Buccoliero, Anna Maria; Pavone, Francesco Saverio

    2014-05-01

    In the recent years, there has been a considerable surge in the application of spectroscopy for disease diagnosis. Raman and fluorescence spectra provide characteristic spectral profile related to biochemical and morphological changes when tissues progress from normal state towards malignancy. Spectroscopic techniques offer the advantage of being minimally invasive compared to traditional histopathology, real time and quantitative. In biomedical optical diagnostics, freshly excised specimens are preferred for making ex-vivo spectroscopic measurements. With regard to fresh tissues, if the lab is located far away from the clinic it could pose a problem as spectral measurements have to be performed immediately after dissection. Tissue samples are usually placed in a fixative agent such as 4% formaldehyde to preserve the samples before processing them for routine histopathological studies. Fixation prevents the tissues from decomposition by arresting autolysis. In the present study, we intend to investigate the possibility of using formalin fixed samples for discrimination of brain tumours from dysplastic tissue using Raman and fluorescence spectroscopy. Formalin fixed samples were washed with phosphate buffered saline for about 5 minutes in order to remove the effects of formalin during spectroscopic measurements. In case of fluorescence spectroscopy, changes in spectral profile have been observed in the region between 550-670 nm between dysplastic and tumor samples. For Raman measurements, we found significant differences in the spectral profiles between dysplasia and tumor. In conclusion, formalin fixed samples can be potentially used for the spectroscopic discrimination of tumor against dysplastic tissue in brain samples.

  1. Vulvar and Perianal Condyloma Superimposed Inflammatory Linear Verrucous Epidermal Nevus: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Sümeyra Nergız Avcioğlu

    2013-01-01

    Full Text Available Inflammatory linear verrucous epidermal nevus (ILVEN is a benign cutaneous hamartoma characterized by intensely erythematous, pruritic, and inflammatory papules that occur as linear bands along the lines of Blaschko. There is a considerable clinical and histological resemblance between ILVEN and linear psoriasis, lichen striatus, linear lichen planus, and invasion of epidermal nevus by psoriasis. The pathogenesis of ILVEN is unknown. It is regarded as a genetic dyskeratotic disease reflecting genetic mosaicism. Here, a case of vulvar and perianal condyloma superimposed ILVEN is presented.

  2. Gorlin’s syndrome: Atypical case report

    Directory of Open Access Journals (Sweden)

    Sanjay N. Agrawal

    2014-10-01

    Full Text Available Gorlin syndrome or basal cell nevus syndrome (BCNS is a rare autosomal dominant disorder. The condition appears to have complete penetrance and variable expressivity, which makes clinilcal presentation among families variable. All known BCNS carry mutations in PATCHED gene. A 65 years old male patient presented with complaints of characteristic skin lesions on his face, back, palms since early adulthood. The lesions were pigmented nodules with characteristic border. The histopathology showed characteristic features suggestive of Basal Cell Carcinoma (BCC. This case was atypical due to appearance of lesions quite later in life.

  3. Medical imaging findings in Cobb syndrome: two case reports

    Institute of Scientific and Technical Information of China (English)

    WANG Guang-bin; XU Lei; ZHAO Bin; CAI Shi-feng; SHI Hao; LI Hui-hua; QU Lei

    2005-01-01

    @@ Cobb syndrome, also known as cutaneomeningospinal angiomatosis, is a rare clinical entity characterized by the combination of a vascular skin nevus and an angioma in the spinal canal at the same metamere.1 It was first described by Berenbruch in 1890 and did not receive recognition until Cobb's description2 in 1915. Only few documents about this disease had been reported.1 We present two cases here and review the other reported cases.

  4. Blue Nevus with a Dermoscopic Appearance of Peripheral Streaks with Branches

    Directory of Open Access Journals (Sweden)

    Sachiko Sakamoto

    2014-02-01

    Full Text Available Blue nevi are dermal dendritic melanocytic proliferations presenting as papules, nodules or plaques of blue, blue-gray or blue-brown color. Dermoscopic appearance commonly shows global patterns as homogeneous mono/dichromatic pigmentation and multichromatic pigmentation. Here, we report the case of a blue nevus with the dermoscopic feature of peripheral streaks with branches. With histopathologic deep sections, we confirmed that dermal dendritic melanocytes were distributed in the direction of the streaks. We emphasize that streaks are a rare but important sign of blue nevi.

  5. White sponge nevus: Report of three cases in a single family

    Science.gov (United States)

    Sanjeeta, Ngairangbam; Nandini, DB; Premlata, Takhellambam; Banerjee, Sumita

    2016-01-01

    White sponge nevus (WSN) is an interesting hereditary oral mucosal disorder that commonly manifests as bilaterally symmetrical, thickened white, corrugated or velvety, diffuse plaques that predominantly affects the buccal mucosa. The lesions may develop at birth or later in childhood or adolescence. Because it is asymptomatic and benign, WSN requires no treatment. Recognition of this disorder is important due to its potential confusion with other lesions that may be found in the oral cavity. Emphasis should be given to the early and correct diagnosis of this disorder to avoid unnecessary treatment. This report presents three affected members of a single family. PMID:27601826

  6. Coexistence of esophageal blue nevus, hair follicles and basaloid sqamous carcinoma: A case report

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    We present the case of a 57-year-old man who underwent esophagectomy for esophageal carcinoma found at barium meal and gastroscopic examination. He was diagnosed as esophageal basaloid squamous carcinoma (BSC) and gastric stromal tumor, which were associated with focal proliferation of melanocytes/ pigmentophages and hair follicles in esophageal mucosa. Melanocytic hyperplasia (melanocytosis) has previously been recognized as an occasional reactive lesion, which can accompany esophageal inflammation and invasive squamous carcinoma. The present case is unusual because of its hyperplasia of not only melanocytes but also hair follicles. To our knowledge, this is the first report of esophageal blue nevus and hair follicle coexisting with BSC.

  7. Analysis of 24 Cases of Becker's Nevus%Becker痣24例分析

    Institute of Scientific and Technical Information of China (English)

    李钟洙; 黄一锦; 张召力; 廖永强; 张海萍

    2012-01-01

    目的 探讨Becker痣的临床特点、合并症和组织病理表现.方法 回顾性分析24例Becker痣临床和病理资料.结果 24例均为散发病例,发病年龄主要集中在10 ~ 20岁(83.33%),发病部位以躯干前部和肩胛部居多(45.83%),典型皮损为较大的单侧分布的多毛的色素沉着斑,组织病理主要表现是表皮不同程度角化过度和棘层肥厚,表皮突较规则地向下延伸,基底层黑素颗粒增多,真皮网状层常见较大的形态不规则的平滑肌纤维束,伴有并发症共5例(20.83%).结论 根据Becker痣典型皮损特点结合组织病理表现临床可以确诊,但是做为一种遗传相关的错构瘤可伴发其他皮肤肌肉骨骼异常,需仔细探明.%Objective To survey the Clinical features, complications and pathological manifestations of Becker's nevus. Methods The clinical and pathological materials of 24 cases of Becker' s nevus were analysed retrospectively. Results All of 24 cases occurred sporadically. The age of onset was mainly around 10 — 20 years old (83. 33% ). The lesions were located predominantly on the anterior trunk or on the scapular region (45.83% ). The typical primary lesion was large, unilateral hyperpigmented patch with hypertrichosis. The histopathology showed varying degrees of hyperkeratosis and acanthosis of the epidermis, regular elongation of the rete ridges,and basal layer hyperpigmentation ,usually larger sized and irregularly formed smooth muscle fiber scattered haphazardly in reticular dermis. Five cases were associated with different kinds of complication (20. 83% ). Conclusion Becker's nevus can be confirmed on the basis of clinical features and pathological examination. As a genetic-related hamartoma, however, Becker' s nevus may be accompanied with other cutaneous and musculoskeletal anomalies that need to be carefully proven.

  8. Clinical features of Sturge-Weber syndrome

    Directory of Open Access Journals (Sweden)

    Palheta Neto, Francisco Xavier

    2008-12-01

    Full Text Available Introduction: The Syndrome of Sturge-Weber is a rare condition of congenital development, and is characterized by a neurocutaneous disorder with angiomas wrapping the leptomeninges and the face skin, mainly in the course of ophthalmic (V1 and maxillary (V2 branches of the trigeminal nerve. Objective: To review the literature about the Sturge-Weber Syndrome with emphasis on the current aspects. Method: The following databases were searched: EMedicine, Encyclopedia of Medicine, FindArticles, LILACS, MEDLINE, Merck Manuals On-Line Medical Library and Scielo, and the searches applied the terms: Sturge-Weber Syndrome, neurocutaneous syndromes, encephalo-trigeminal angiomatosis, nevus flammeus, in articles published between 1991 and 2007. Literature's Review: The most characteristic clinical statement is the presence, since the birth, of nevus flammeus, that generally reaches one half of the face and may stretch out up to the neck; in addition, other clinical manifestations may be present, like the corticocerebral angiomatosis, cerebral calcifications, epilepsy, ocular and buccal affections and mental retardation. The diagnosis is established by means of the inquiry of neurological and ophthalmic alterations in patients with a characteristic nevus flammeus, allied to the clinical data of complementary exams such as Computerized Tomography. The treatment consists basically of controlling the already confirmed clinical manifestations and preventing from the appearing of other alterations, mainly buccal and ocular. Conclusion: This syndrome is not much frequent, but it needs to be early diagnosed, since it brings a series of complications to its carriers when not treated, specially because of reaching the Nervous Central System. The health professionals have to be suitably able to recognize its characteristic signs and symptoms, and so improve the quality of life of these patients.

  9. Meckel-Gruber syndrome: A rare and lethal anomaly

    OpenAIRE

    Kheir, Abdelmoneim E.M.; Imam, Abdelmutalab; Omer, Ilham M.; Hassan, Ibtsama M.A.; Elamin, Sara A.; Awadalla, Esra A.; Gadalla, Mohammed H.; Hamdoon, Tagwa A.

    2012-01-01

    Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features described. We describe a female baby who had the typical triad of Meckel-Gruber syndrome and died shortly after birth.

  10. Meckel-Gruber syndrome: A rare and lethal anomaly.

    Science.gov (United States)

    Kheir, Abdelmoneim E M; Imam, Abdelmutalab; Omer, Ilham M; Hassan, Ibtsama M A; Elamin, Sara A; Awadalla, Esra A; Gadalla, Mohammed H; Hamdoon, Tagwa A

    2012-01-01

    Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features described. We describe a female baby who had the typical triad of Meckel-Gruber syndrome and died shortly after birth.

  11. Role of Q-switched ND:YAG laser in nevus of Ota: A study of 25 cases

    Directory of Open Access Journals (Sweden)

    Shivangi Sharma

    2011-01-01

    Full Text Available Background: Nevus of Ota is common condition in Indian patients. The condition is more common in females, with a male-female ratio of 1:4.8. Aim : To evaluate long-term efficacy safety and stability of Q-switched ND:YAG laser in treatment of Nevus of Ota. Design: 6 month follow-up of patients of Nevus of Ota, treated with Q-switched ND:YAG laser Materials and Methods : Twenty-five patients of Nevus of Ota were treated with Q-switched ND:YAG laser for a period of 1 year and 9 months; patient had fitzpatricks skin type 4 and 5; detailed history, clinical examination, ophthalmoscopy, and otoscopy was done in all cases; clinical photographs were taken before and after the completion of treatments. Six-month follow-up was done after the last session. Response to treatment was graded based on physician′s global assessment. Result : More than 70% improvement was seen in 15 patients (60%. Eight patients (32% had moderate and two patients (8% showed mild improvement.

  12. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

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    S Manjima

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  13. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.

    Science.gov (United States)

    Manjima, S; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

    2015-03-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  14. RABSON-MENDENHALL SYNDROME: A CASE REPORT

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    Mohammad Reza ALAEI

    2010-07-01

    Full Text Available Rabson-Mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this is the first report of the Rabson-Mendenhall syndrome from Iran.Keywords:Diabetes, Hirsutism, Insulin resistance, Clitoromegaly

  15. Multidirectional Vector Excision Leads to Better Outcomes than Traditional Elliptical Excision of Facial Congenital Melanocytic Nevus

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    Seung Il Oh

    2013-09-01

    Full Text Available Background The elliptical excision is the standard method of removing benign skin lesions,such as congenital melanocytic nevi. This technique allows for primary closure, with little to nodog-ear deformity, but may sacrifice normal tissue adjacent to the lesion, resulting in scarswhich are unnecessarily long. This study was designed to compare the predicted results ofelliptical excision with those resulting from our excision technique.Methods Eighty-two patients with congenital melanocytic nevus on the face were prospectivelystudied. Each lesion was examined and an optimal ellipse was designed and marked onthe skin. After an incision on one side of the nevus margin, subcutaneous undermining wasperformed in the appropriate direction. The skin flap was pulled up and approximated alongseveral vectors to minimize the occurrence of dog-ear deformity.Results Overall, the final wound length was 21.1% shorter than that achieved by ellipticalexcision. Only 8.5% of the patients required dog-ear repair. There was no significant distortionof critical facial structures. All of the scars were deemed aesthetically acceptable based ontheir Patient and Observer Scar Assessment Scale scores.Conclusions When compared to elliptical excision, our technique appears to minimize dogeardeformity and decrease the final wound length. This technique should be considered analternative method for excision of facial nevi.

  16. Treatment of 522 patients with Nevus of Ota with Q-switc hed Alexandrite laser

    Institute of Scientific and Technical Information of China (English)

    卢忠; 方丽华; 焦圣; 黄雯; 陈军庞; 王侠生

    2003-01-01

    Objective To evaluate the clinical response of Nevus of Ota to Q-switched Alexandrite laser, and analyze factors that influence the treatment outcome.Methods A total of 522 patients treated with Q-switched Alexandrite laser were included in the study. Single and multiple variate analyses of various factors were per formed. Results Satisfactory result was observed in all patients, none of whom developed scarring. Clinical response was improved with additional treatment sessions. The clin ical response of the 20-27-week treatment interval group was significantly better t han that of the 12-19-week interval group, but showed no significant difference as compared with both the 28-35 and ≥36-week interval group. Zygomatic, bucc al and frontal areas showed better response than ocular and temporal areas. Tre atment session, interval, and fluence were significant factors identified by mul tivariate analysis. Conclusions Q-switched Alexandrite laser is an ideal method for treating Nevus of Ota without injury. The number of treatment sessions is more important than interval or fluence.

  17. Clinicopathologic analysis of 21 cases of nevus sebaceus: A retrospective study

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    Simi C

    2008-01-01

    Full Text Available Background: Nevus sebaceus (NS, otherwise designated as ′organoid nevus′, involves proliferative changes of the sebaceous glands, sweat glands, and the hair follicles. It displays a range of appearances, depending on the lesion′s age. Aims: To study the histopathological features of NS and correlate these with clinical findings. Methods: All skin biopsy specimens over a 12-year period from 1995 to 2007 which had a diagnosis of NS were included. Clinical data with follow-up notes and histopathology were reviewed. Results: Half of the cases had a verrucous clinical appearance, while the rest presented as papules, plaques, or patches. All the cases showed immature hair follicles, and 24% of cases showed immature sebaceous glands. Normal terminal hair follicles were characteristically absent in the lesion. Nineteen percent of the cases showed dilated apocrine glands, and 14% showed hyperplasia of eccrine glands. Epidermal changes in the form of acanthosis, papillomatosis, and hyperkeratosis were seen in 86% of cases. Dilated keratin-filled infundibula were observed in 24% of cases. One case was associated with a squamous cell carcinoma. Conclusions: Nevus sebaceus is a cutaneous hamartoma, consisting of various elements indigenous to the organ. Normal terminal hair follicles are characteristically absent in the lesion although the same may be seen in rest of the epidermis, a feature of diagnostic importance, not usually highlighted in literature. The divergent differentiation observed in NS is consistent with the common embryologic origin of the folliculosebaceous-apocrine unit and should not mislead the pathologist.

  18. [Congenital "kissing" lesions: Nevus or "café au lait" spot?

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    Durazzo, A; Boccara, O; Fraitag, S; Fusade, T; Picard, A; Kadlub, N

    2016-12-01

    "Café au lait" spots (CLS) are pigmented skin lesions principally located at the trunk and the limbs. Histologically, CLSs consist in an excessive pigmentation of the epidermis, with no risk of malignant transformation. The "kissing" nevus is a rare pigmented congenital nevus affecting both lower and upper eyelids in a mirror layout. As other nevi, it presents a theoretical risk of malignant transformation. These two pigmented lesions are responsible for aesthetic discomfort when affecting the face. Three patients presenting with a congenital pigmented lesion affecting the two eyelids in a mirror layout are presented. In two cases, the lesions, initially considered as "kissing" nevi, were classified as CLSs. The diagnosis of CLS was made on a biopsy in one patient and after surgery in the other one. Pigmented mirror layout lesions, called "kissing" lesions, are exclusively described for the nevi. We describe two cases of CLSs affecting the eyelids in a mirror layout. Difficulties in diagnostic are exposed and the possible treatments are discussed. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  19. Melanoma cutáneo asociado a nevo previo Cutaneous melanoma associated with previous nevus

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    María P. Gutiérrez

    2009-10-01

    Full Text Available El melanoma maligno es una neoplasia originada en los melanocitos de la piel y otras localizaciones. No existe información en nuestro país acerca de su incidencia y prevalecencia, sí se sabe cuáles son los factores de riesgo más importantes. El melanoma puede originarse de novo o a partir de lesiones melanocíticas previas. La noción de que un nevo melanocítico pueda servir como lesión precursora es sustentada por evidencias clínicas e histológicas. Realizamos en el Hospital Privado de Córdoba un estudio observacional, retrospectivo y analítico. El objetivo de este trabajo fue conocer cuál es la frecuencia de asociación de melanomas malignos que se desarrollan sobre nevos previos. Fueron analizados un total de 134 melanomas. En 32 pacientes (24%, los melanomas estuvieron histológicamente asociados con nevos, con espesores de Breslow mayores de 1 mm el porcentaje de asociación fue de 16.3%, y con Breslow menores de 1 mm, 38.1%. Al evaluar los melanomas en relación a la clasificación de Breslow y Clark, se objetivó que el grupo de melanomas asociados a nevos presentó un espesor de Breslow y niveles de Clark bajos y en el análisis estadístico fueron predictores significativos en la probabilidad de hallar esta asociación (p The malignant melanoma is a neoplasia originated from the melanocytes located in the skin and other locations. Even though there is not information regarding its incidence and prevalence in our country, its most important risk factors are known. The melanoma can originate de novo or from previous melanocytic lesions. The concept that a melanocytic nevus can serve as a precursor lesion is supported by clinical and histological evidence. An observational, retrospective and analytical study was carried out in the Hospital Privado de Córdoba. The objective was to determine which is the frequency of association of malignant melanomas that develop on previous nevus. A total of 134 melanomas were analyzed. In 32

  20. Clinicopathologic Analysis on Endocervical Blue Nevus%宫颈蓝痣的临床病理分析

    Institute of Scientific and Technical Information of China (English)

    宋新兰; 付娟娟

    2015-01-01

    目的:探讨宫颈蓝痣的临床病理特点。方法收集2009年—2014年病理诊断为蓝痣的病例29例,从中筛选出皮肤以外的蓝痣10例,进行光镜观察。结果10例皮肤外蓝痣均位于宫颈管下段,呈黑褐色斑块状,界限较清,粘膜光滑,未见明显凸起。光镜:宫颈管粘膜下间质浅层可见较多痣细胞散在及灶状分布,胞浆内充满棕褐色粗颗粒。结论蓝痣是一种罕见的良性的黑色素增生性病变,皮肤以外的病例大部分发生在宫颈。%Objective The purpose of this study is to explore the clinical and pathological features of the blue nevus of the uterine cervix. Methods Collected 29 cases of blue nevus pathological diagnosed from 2009 to 2014, 10 cases of extracutaneous blue nevus were screened out. Results 10 cases of extracutaneous blue nevi are located in the lower section of cervical canal, dark brown plaque, was clear boundaries, mucosal smooth, no obvious bulge. Light microscopy:In cervical mucous interstitial shallow , we can see more nevus cells scattered and spotty distribution, full brown coarse particles in the cytoplasm. Conclusion Blue nevus is a rare benign proliferative lesions of melanin, the majority of extracutaneous cases occurred in the cervix.

  1. Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.

    Science.gov (United States)

    Ruggieri, Martino; Milone, Pietro; Pavone, Piero; Falsaperla, Raffaele; Polizzi, Agata; Caltabiano, Rosario; Fichera, Marco; Gabriele, Anna Lia; Distefano, Angela; De Pasquale, Rocco; Salpietro, Vincenzo; Micali, Giuseppe; Pavone, Lorenzo

    2012-11-01

    The term twin spotting refers to phenotypes characterized by the spatial and temporal co-occurrence of two (or more) different nevi arranged in variable cutaneous patterns, and can be associated with extra-cutaneous anomalies. Several examples of twin spotting have been described in humans including nevus vascularis mixtus, cutis tricolor, lesions of overgrowth, and deficient growth in Proteus and Elattoproteus syndromes, epidermolytic hyperkeratosis of Brocq, and the so-called phacomatoses pigmentovascularis and pigmentokeratotica. We report on a 28-year-old man and a 15-year-old girl, who presented with a previously unrecognized association of paired cutaneous vascular nevi of the telangiectaticus and anemicus types (naevus vascularis mixtus) distributed in a mosaic pattern on the face (in both patients) and over the entire body (in the man) and a complex brain malformation (in both patients) consisting of cerebral hemiatrophy, hypoplasia of the cerebral vessels and homolateral hypertrophy of the skull and sinuses (known as Dyke-Davidoff-Masson malformation). Both patients had facial asymmetry and the young man had facial dysmorphism, seizures with EEG anomalies, hemiplegia, insulin-dependent diabetes mellitus (IDDM), autoimmune thyroiditis, a large hepatic cavernous vascular malformation, and left Legg-Calvé-Perthes disease (LCPD) [LCPD-like presentation]. Array-CGH analysis and mutation analysis of the RASA1 gene were normal in both patients.

  2. Differentiation of dysplastic nodule from hepatocellular carcinoma on contrast-enhanced power and pulsed Doppler US

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    Shin, Jung Hee; Baek, Seung Yon; Kang, Byung Chul; Chung, Hye Kyung [Ewha Womans University College of Medicine, Seoul (Korea, Republic of)

    2001-09-15

    The purpose of this study was to differentiate dysplastic (DN) from hepatocellular carcinoma (HCC) in patients with liver cirrhosis on contrast-enhanced power and pulsed Doppler US. Twenty-one patients with liver cirrhosis and a focal lesion were included. They consisted of biopsy proven 12 DNs (mean diameter; 1.8 cm, M : F = 5 :7, mean age 60) and 9 HCCs (mean diameter: 2.3 cm, M : F = 6 : 3,mean age 63). All the patients were prospectively examined with Acusion Computed Sonography 128XP/10 and 4 MHz vector transducer. Gray-scale US was done to assess the echogenicity of the focal lesion. Vascular flow signals within the focal lesion were examined with power Doppler US. After the injection of 7 ml (300 mg/ml) suspension of US contrast agent (Levovist, Schering, Berlin, Germary), vascular flow signals were graded to 4 grades on power Doppler US. Arterial and/or venous flow pattern on pulsed Doppler US were evaluated. Statistical analysis was done using chi-square method. On gray-scale US, 10 (83%) DNs showed hypoechogenicity and the other two (17%) showed hyperechogenicity 7 (78%) HCCs were hypoechoic and two (22%) were hyperechoic. On non-enhanced power Doppler US, all 12 cases (100%) of DNs had no vascular flow signal and four cases of nine HCCs (grade II: three, grade III: one) revealed vascular flow signals (p=0.429). On contrast-enhanced power Doppler US, 11 cases(92%) of DNs and all cases (100%) of HCCs showed increased vascular flow signals. Three (24%) of DNs and 7 (78%) of HCCs showed grade III and IV. There was a statistical difference in the grade of vascular flow signals between two groups (p=0.03). On pulsed Doppler US, the arterial flow was present in 2 (17%) DNs and 8 (89%) HCCs (p=0.002) and venous flow was present in 11 (92%) DNs and 5 (56%) HCCs. Combined flow appeared in 2 cases (16%) of DNs and 4 cases (44%) of HCCs. In differentiating DN from HCC, the higher probability of HCC can be considered if a focal lesion in cirrhotic patients has grade

  3. Expression of the cell cycle regulation proteins p53 and p21WAF1 in different types of non-dysplastic leukoplakias

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    Fernanda Visioli

    2012-06-01

    Full Text Available OBJECTIVES: The aim of this study was to analyze the immunolabeling of two cell cycle protein regulators, p53 and p21WAF1, in non-dysplastic leukoplakias with different epithelial alterations: acanthosis, hyperkeratosis and acanthosis combined with hyperkeratosis, and compare them with dysplastic leukoplakias. MATERIAL AND METHODS: This was a prospective cohort study involving 36 patients with oral homogeneous leukoplakias. excisional biopsies were performed and the patients remain under clinical follow-up. The leukoplakias were divided into four groups: 6 acanthosis, 9 hyperkeratosis, 10 acanthosis combined with hyperkeratosis, and 11 epithelial dysplasias. Paraffin-embebeded sections were immunostained for p53 and p21WAF1. Five hundred cells from the basal layer and 500 from the parabasal layer were counted to determine the percentage of positive cells. A qualitative analysis was also carried out to determine the presence or absence of immunohistochemical staining in the intermediate and superficial layers. Groups were compared with ANOVA (p0.05. CONCLUSIONS: Our findings failed to differentiate the non-dysplastic lesions by means of p53 and p21WAF1 immunostaining, notwithstanding similar profiles between non-dysplastic and dysplastic leukoplakias were observed.

  4. Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.

    Science.gov (United States)

    Kaissi, Ali Al; Kraschl, Raimund; Kaulfersch, Wilhelm; Grill, Franz; Ganger, Rudolf

    2015-09-01

    We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges.

  5. Paroxysmal vascular events in Sturge– Weber syndrome: Role of aspirin

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    Jyoti Sanghvi

    2014-01-01

    Full Text Available Sturge-Weber syndrome (SWS is a rare, sporadically occurring neurocutaneous disorder with a frequency of approximately 1 per 50,000. The hallmark is an intracranial leptomeningeal vascular angioma in association with a port wine nevus, usually involving ophthalmic or maxillary distribution of trigeminal nerve. Other clinical findings associated with SWS are seizures, glaucoma, hemiparesis and mental retardation. The radiological hallmark is "Tram-line" or "Gyri-form" calcification. 25 to 56% of patients experience recurrent episodes of paroxysmal focal neurological deficits in form of transient hemiparesis, which may be due to vascular ischemia or postictal in origin. EEG helps to differentiate the exact etiology, as it is normal in former. Aspirin prophylaxis in those, due to ischemia decreases their recurrences and improves overall neurological prognosis. We report a 25-month-old child of SWS with recurrent episodes of transient hemiparesis and atypical midline location of facial vascular nevus.

  6. Hepatic expression of the proliferative marker Ki-67 and p53 protein in HBV or HCV cirrhosis in relation to dysplastic liver cell changes and hepatocellular carcinoma.

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    Koskinas, J; Petraki, K; Kavantzas, N; Rapti, I; Kountouras, D; Hadziyannis, S

    2005-11-01

    To evaluate hepatic expression of the nuclear proliferative marker Ki-67 and the p53 oncoprotein in hepatitis B virus (HBV)/HCV cirrhosis in relation to dysplastic liver cell changes and hepatocellular carcinoma (HCC). We studied needle liver biopsies from 107 patients with cirrhosis and no HCC (52 HBV, 55 HCV) who had been assessed for protocol studies, and 57 cirrhotic patients with HCC (40 HBV, 17 HCV). We evaluated small and large cell dysplastic changes along with the expression of Ki-67 and p53 by immunohistochemistry. The labelling index (LI) was defined as the proportion (%) of positive-stained nuclei of the 500 measured. Large and small cell dysplastic changes were observed in 12 and 9% of specimens respectively. Only small cell changes were associated with Ki-67 expression. Ki-67 LI was 5.50 +/- 5.7 in cirrhosis (13.90 +/- 3.84 in those with small cell dysplastic changes vs 4.64 +/- 4.98 in those without, P cirrhosis with HCC (P cirrhosis. Expression of p53 was observed in 30% of the non-tumorous and in 53% of the neoplastic tissue obtained from patients with HCC, with no differences between HCV and HBV. Ki-67 and p53 expression was associated with the tumour grade (P < 0.001). Our observations clearly demonstrate the association between the proliferation activity and the morphological changes in the cirrhotic liver from the non-dysplastic to dysplastic lesion to HCC. They also support the hypothesis that p53 alterations are a rather late event in carcinogenesis and related to HCC grade. And finally, they suggest that the final steps of hepatocarcinogenesis are common and independent of the aetiology of the chronic viral infection.

  7. Linear and whorled nevoid hypermelanosis complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris.

    Science.gov (United States)

    Lu, Yan; Zhu, Wen-Yuan

    2007-11-01

    We report a 17-year-old girl who presented with linear and whorled melanosis following Blaschko lines mainly on her trunk. Ichthyosiform lesions and linear scaling erythemas were observed respectively on her lower limbs and the dorsa of her hands, left knee, ankle and foot. No abnormality was found in systemic examination and blood tests. A biopsy specimen of pigmentation of her back showed there was increased pigmentation within the basal keratinocytes, with focal incontinentia pigmenti. Notable lymphangiectasis could also be seen in the mid part of dermis, which had never previously been described. The biopsy of scaling erythemas of her hand showed dominant hyperkeratosis with focal parakeratosis, acanthosis and papillomatous hyperplasia in the epidermis. The diagnosis of linear and whorled nevoid hypermelanosis (LWNH) complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris was made in accordance with clinical and pathological manifestations. LWNH ought to be differentiated from incontinentia pigmenti and hypomelanosis of Ito.

  8. Giant congenital melanocytic nevus of the face. A clinical case report

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    Маргарита Сергеевна Цыплакова

    2015-06-01

    Full Text Available This article describes a rare case of congenital anomalies: giant melanocytic nevus of the face. Errors in the choice of treatment strategy of children with this disease and their complications can lead to poor aesthetic and functional results. When choosing a method of plastic eliminate defects formed after removal of nevi, it is necessary to take into account anatomical features of the maxillofacial region. The department developed the scheme of complex treatment of these patients. Surgical treatment in combination with massage and myogymnastics, regular medical observation, provides a good aesthetic results. Integrated approach in the treatment of children with giant nevi of the face allows for an early medico-social rehabilitation of children with this pathology.

  9. Melanoma associated with congenital intermediate common blue nevus of the scalp - Case report*

    Science.gov (United States)

    Ribeiro, Camila Sampaio; Serpa, Sergio S.; Sousa, Maria Auxiliadora Jeunon; Jeunon, Thiago

    2016-01-01

    Melanomas can arise either de novo (70%) or from pre-existing melanocytic lesions (30%). Of the latter, most cases arise at the dermoepidermal junction from small congenital or acquired non-blue nevi while only a few arise from blue nevi, notably the cellular subtype and less commonly the common (dendritic) type. Melanomas that arise from blue nevi usually occur on the scalp with greater frequency, as in the case described. Although previous studies have discussed melanoma arising from giant congenital blue nevi, few have discussed those arising from intermediate blue nevi. We present a case of a 52-yearold man with melanoma on the scalp evolving from an intermediate congenital common blue nevus. PMID:27579751

  10. Co-occurrence of vitiligo and Becker's nevus: A case report

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    Ayşegül Yalçınkaya İyidal

    2016-12-01

    Full Text Available Vitiligo is an acquired disorder with an unknown etiology in which genetic and non-genetic factors coexist. Melanocytes are destructed in the affected skin areas and clinically depigmented macules and patches appear on the skin. Becker's nevus (BN appears as hyperpigmented macule, patch or verrucous plaques with sharp and irregular margins and often unilateral occurrence and with associated hypertrichosis in various degrees. Although its pathogenesis is unknown, it is suggested to represent a hamartomatous lesion harboring androgen receptors on the lesion. In this report, we present a 19-year-old male patient who developed vitiligo lesions and then BN adjacent to the vitiligo lesion in the right upper back portion of the body ten years after the initial vitiligo lesion.

  11. Sturge-Weber syndrome with no leptomeningeal enhancement on MRI

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    Fischbein, N.J.; Barkovich, A.J. [Department of Radiology, San Francisco, CA (United States); Wu, Y.; Berg, B.O. [Department Pediatric Neurology, University of California, San Francisco, California (United States)

    1998-03-01

    Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by a facial nevus flammeus associated with seizures, developmental delay, and, often, with hemiparesis and hemianopia. On MRI, the most characteristic finding has been reported to be leptomeningeal enhancement, believed to represent leakage of contrast medium through the anomalous pial vessels that characterize the disease. We present a case of SWS with no evidence of leptomeningeal enhancement. This case illustrates that leptomeningeal enhancement need not be present in SWS, and the absence of this characteristic finding does not preclude the diagnosis. (orig.) With 2 figs.

  12. Nail apparatus melanoma initially diagnosed as nail matrix blue nevus: a case report with dermatoscopy and dermatopathology

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    Akay, Bengu Nisa; Heper, Aylin Okcu; Thomas, Luc; Balme, Brigitte; Clark, Simon; Rosendahl, Cliff

    2017-01-01

    We present a case of nail apparatus melanoma in a 50-year-old woman presenting as new and changing longitudinal melanonychia of the right thumb. Very heavy melanin pigmentation involving both the epidermis and dermis interfered with dermatopathological assessment, which initially leads to a diagnosis of nail matrix blue nevus. After consultation with a specialist multidisciplinary clinic the diagnosis was revised to invasive melanoma, a diagnosis consistent with the clinical and dermatoscopic assessment. PMID:28243499

  13. Angiogenesis Research to Improve Therapies for Vascular Leak Syndromes, Intra-abdominal Adhesions, and Arterial Injuries

    Science.gov (United States)

    2008-04-01

    glioma, skin cancer prevention, basal cell nevus syndrome, Barrett’s oesophagus, hepatocellular, oesophogael, prostate, cervical, colorectal, head...HARVARD MEDICAL SCHOOL In this issue of Blood, Shi and colleagues examine the endostatin binding of nucleo - lin on angiogenic endothelial cells, as...relationship of nucleo - lin to other cell-surface endostatin-binding proteins can be uncovered, particularly 51. Will this endostatin-nucleolin connec

  14. Nevus melanocítico intradérmico congénito gigante. "El niño tortuga (testudines": Caso clínico Giant congenital melanocytic nevus. "Turtle boy": Case report

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    J.F. Arango Ospina

    2009-09-01

    Full Text Available Presentamos el caso de un paciente de 2 años de edad, conocido en su pueblo, como "el niño tortuga (testudines" debido a la gran similitud con dicho reptil. Desde su nacimiento presentó nevus melanocítico gigante localizado en región torácica posterior, región lumbosacra y lesiones satélites en extremidades y abdomen, de 50 por 40cm de diámetro y color café oscuro; la piel en las zonas afectadas es gruesa con grandes surcos de aspecto corrugado (cerebriforme. El nombre dado al niño se basa en la similitud de sus lesiones con la morfología de una tortuga, ya que el caparazón cubre la zona superior, inferior y lateral del cuerpo de este animal, de la misma forma que el nevus gigante lo hacía en el caso de nuestro paciente. Este caparazón está formado por placas óseas revestidas de placas corneas, que se asemejan a los surcos de aspecto corrugado que conforman el nevus melanocítico gigante. Los estudios clínicos practicados revelaron compromiso cardiovascular, hepático y esplénico, así como una desfavorable evolución y pronostico del cuadro clínico, por lo que esta patología, específicamente para este niño y de acuerdo a la junta Médico-Quirúrgica y valoraciones, fue considerada inoperable.We present the case of a 2 years-old patient, known in his town as "turtle boy"(testudines due to his great simility with this reptile because of his giant congenital melanocytic nevus, located in the posterior and lateral aspect of the chest and in smaller proportion in abdomen and extremities, of 50 by 40cm and dark brown colour. The skin in this zone is thick with great furrows and corrugated aspect. He was called "turtle boy" based on the morphology of the turtle, its shell covers the superior, inferior and lateral zone like in our patient's case. It is formed by bone layers covered by cornea layers, which resemble the furrows and corrugated aspect of the giant congenital melanocytic nevus. Medical investigation reveals

  15. ToF-SIMS and principal component analysis of lipids and amino acids from inflamed and dysplastic human colonic mucosa.

    Science.gov (United States)

    Urbini, Marco; Petito, Valentina; de Notaristefani, Francesco; Scaldaferri, Franco; Gasbarrini, Antonio; Tortora, Luca

    2017-08-03

    Here, time of flight secondary ion mass spectrometry (ToF-SIMS) and multivariate analysis were combined to study the role of ulcerative colitis (UC), a type of inflammatory bowel disease (IBD), in the colon cancer progression. ToF-SIMS was used to obtain mass spectra and chemical maps from the mucosal surface of human normal (NC), inflamed (IC), and dysplastic (DC) colon tissues. Chemical mapping with a lateral resolution of ≈ 1 μm allowed to evaluate zonation of fatty acids and amino acids as well as the morphological condition of the intestinal glands. High mass resolution ToF-SIMS spectra showed chemical differences in lipid and amino acid composition as a function of pathological state. In positive ion mode, mono- (MAG), di- (DAG), and triacylglycerol (TAG) signals were detected in NC tissues, while in IC and DC tissues, the only cholesterol was present as lipid class representative. Signals from fatty acids, collected in negative ion mode, were subjected to principal component analysis (PCA). PCA showed a strict correlation between IC and DC samples, due to an increase of stearic, arachidonic, and linoleic acid. In the same way, differences in the amino acid composition were highlighted through multivariate analysis. PCA revealed that glutamic acid, leucine/isoleucine, and valine fragments are related to IC tissues. On the other hand, tyrosine, methionine, and tryptophan peaks contributed highly to the separation of DC tissues. Finally, a classification of NC, IC, and DC patients was also achieved through hierarchical cluster analysis of amino acid fragments. In this case, human colonic inflammation showed a stronger relationship with normal than dysplastic condition. Graphical Abstract ᅟ.

  16. BIOMECHANICS OF THERAPEUTIC RIDING DURING THE DISEASES OF I-II DEGREE DYSPLASTIC LUMBAR AND STATIC (SHORT LEG) SCOLIOSIS.

    Science.gov (United States)

    Sheshaberidze, E; Merabishvili, I; Loria, M

    2015-11-01

    The goal of the paper is to substantiate the essence of ridetherapy biomechanics as the pathogenetic therapeutic and prophylactic method at lumbar dysplastic (the I and II degrees) and static (short-legged induced) scoliosis. Uneven lower extremities caused by any reason and asymmetric support induce the change in the arrangement of trochantin to the vertebra and correspondingly the uneven loading of lumbar muscles. The asymmetric strength of lumbar muscles evoked by the change in rotator condition becomes the cause of the formation of scoliosis primary arc which, in its turn, causes a compensatory spinal curvature. In case of dysplastic scoliosis a leading role belongs to the beginning of dystrophic changes in intervertebral discs and its further decentration. At riding position the lower extremities are completely disengaged from the antigravity redistribution, the child is in direct contact with vibrations and jolts coming from the horseback; the antigravity loading is distributed on the muscles of the torso and thus, it creates an opportunity to purposefully affect the correction of the spine. During scoliosis the pathogenic essence of ridetherapy is due to the comprehensiveness of its procedures, expressed in the fact that during one procedure several factors are influenced simultaneously: nucleus pulpous, the torso and iliopsoas muscles, the antigravity system, etc. According to the clinical-functional and radiographic studies carried out in the dynamics on 11-16 years old adolescents it has been established that in those groups where the rehabilitation was conducted in a complex with ridetherapy the authentically higher results were obtained as compared to the groups where the rehabilitation was held using therapeutic exercises and massage.

  17. Syndromes and Disorders Associated with Omphalocele (I: Beckwith–Wiedemann Syndrome

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-06-01

    Full Text Available Beckwith–Wiedemann syndrome (BWS, OMIM 130650 is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia, cardiac defects, nevus flammeus, hemangiomata, and an increased frequency of embryonal tumors. This article provides an overview of BWS including the genetics, genetic diagnosis, genotype/epigenotype–phenotype correlations, association with assisted reproductive technology, and prenatal diagnosis. Omphalocele is an important sonographic marker for BWS. Prenatal detection of omphalocele, fetal overgrowth, polyhydramnios, increased abdominal circumference, placentomegaly and/or placental mesenchymal dysplasia should alert one to the possibility of BWS and prompt a genetic investigation and counseling for BWS.

  18. Cerebrovascular disease associated with Aarskog-Scott syndrome

    Energy Technology Data Exchange (ETDEWEB)

    DiLuna, Michael L.; Amankulor, Nduka M.; Gunel, Murat [Yale University School of Medicine, Department of Neurosurgery, New Haven, CT (United States); Johnson, Michele H. [Yale University School of Medicine, Department of Diagnostic Radiology, New Haven, CT (United States)

    2007-05-15

    Faciogenital dysplasia, also known as Aarskog-Scott syndrome (AAS), is an X-linked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and urogenital abnormalities, ocular manifestations, congenital heart defects, low IQ and behavioral problems. Here we describe an unusual presentation of dysplastic carotid artery, basilar artery malformation or occlusion and posterior circulation aneurysm in a 13-year-old male with AAS. (orig.)

  19. Ellis-van Creveld syndrome with facial hemiatrophy

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    Bhat Yasmeen

    2010-01-01

    Full Text Available Ellis-van Creveld (EVC syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.

  20. Ellis-van Creveld syndrome with facial hemiatrophy.

    Science.gov (United States)

    Bhat, Yasmeen J; Baba, Asif Nazir; Manzoor, Sheikh; Qayoom, Seema; Javed, Sheikh; Ajaz, Hakeem

    2010-01-01

    Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.

  1. Dandy-Walker anomaly in Meckel-Gruber syndrome.

    Science.gov (United States)

    Cincinnati, P; Neri, M E; Valentini, A

    2000-01-01

    We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus. The main neuropathological finding at autopsy was in a very large cyst located in an abnormally wide posterior cranial fossa consistent with a Dandy-Walker anomaly. Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms a disturbance in rhombencephalon development. Although uncommon, it should be included among the central nervous anomalies representative of the syndrome.

  2. Periodontal Management of Sturge-Weber Syndrome

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    Butchibabu Kalakonda

    2013-01-01

    Full Text Available Sturge-Weber syndrome (SWS is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma, and choroidal hemangioma and leptomeningeal angioma most often involving occipital and parietal lobes. The present paper reports three cases of SWS with oral manifestations and periodontal management, which included thorough scaling and root planing followed by gingivectomy with scalpel and laser in cases 1 and 3 consecutively to treat the gingival enlargement. However, the treatment in case 2 was deferred as the patient was not a candidate for periodontal surgery.

  3. Human giant congenital melanocytic nevus exhibits potential proteomic alterations leading to melanotumorigenesis

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    Kim Hyoung Kyu

    2012-08-01

    Full Text Available Abstract Background A giant congenital melanocytic nevus (GCMN is a malformation of the pigment cells. It is a distress to the patients for two reasons: one is disfigurement, and the other is the possibility of malignant changes. However, the underlying mechanisms of the development of GCMN and melanotumorigenesis in GCMN are unknown. Hence, the aim of this study was to identify the proteomic alterations and associated functional pathways in GCMN. Results Proteomic differences between GCMN (n = 3 and normal skin samples (n = 3 were analyzed by one-dimensional-liquid chromatography-tandem mass spectrometry Relative levels of the selected proteins were validated using western blot analysis. The biological processes associated with the abundance modified proteins were analyzed using bioinformatic tools. Among the 46 abundance modified proteins, expression of 4 proteins was significantly downregulated and expression of 42 proteins was significantly upregulated in GCMN compared to normal skin samples (p  Conclusion These findings suggest that GCMN exhibits potential proteomic alterations, which may play a role in melanotumorigenesis, and the significant alteration of 14-3-3 family proteins could be a key regulator of the biological pathway remodeling in GCMN.

  4. Laser treatment of nevus flammus (port-wine stain) with spectroscopic feedback: the smart scalpel

    Science.gov (United States)

    Sebern, Elizabeth L.; Brenan, Colin J. H.; Anderson, R. Rox; Hunter, Ian W.

    1999-06-01

    While feedback control is widespread throughout many engineering fields, surgical instruments with embedded feedback control systems are uncommon. To improve the effectiveness of microsurgical techniques, we are presently developing a semi-autonomous robotic surgical tool as an alternative approach to treatment of skin hemangiomas like nevus flammus. Current PWS phototherapy relies on selective absorption of optical radiation by the ectatic blood vessels in a PWS resulting in thermally-mediated vessel necrosis. Although shown to be effective,heating of the surrounding tissue by photon absorption results in unacceptable collateral damage. The 'Smart Scalpel' approach employs optical reflectance spectroscopy to selectively target blood vessels in a PWS for heating with a focused laser beam. Collateral damage to adjacent tissue is substantially minimized and continuous imaging throughout the procedure allows modification of the delivered therapy to optimize therapeutic outcomes. Our work reported here involves optical system design and construction, initial quantification of imaging system resolution and contrast, and preliminary verification of the imaging and targeting strategies.

  5. Mesenchymal Stem and Progenitor Cells in Normal and Dysplastic Hematopoiesis—Masters of Survival and Clonality?

    Science.gov (United States)

    Pleyer, Lisa; Valent, Peter; Greil, Richard

    2016-01-01

    Myelodysplastic syndromes (MDS) are malignant hematopoietic stem cell disorders that have the capacity to progress to acute myeloid leukemia (AML). Accumulating evidence suggests that the altered bone marrow (BM) microenvironment in general, and in particular the components of the stem cell niche, including mesenchymal stem cells (MSCs) and their progeny, play a pivotal role in the evolution and propagation of MDS. We here present an overview of the role of MSCs in the pathogenesis of MDS, with emphasis on cellular interactions in the BM microenvironment and related stem cell niche concepts. MSCs have potent immunomodulatory capacities and communicate with diverse immune cells, but also interact with various other cellular components of the microenvironment as well as with normal and leukemic stem and progenitor cells. Moreover, compared to normal MSCs, MSCs in MDS and AML often exhibit altered gene expression profiles, an aberrant phenotype, and abnormal functional properties. These alterations supposedly contribute to the “reprogramming” of the stem cell niche into a disease-permissive microenvironment where an altered immune system, abnormal stem cell niche interactions, and an impaired growth control lead to disease progression. The current article also reviews molecular targets that play a role in such cellular interactions and possibilities to interfere with abnormal stem cell niche interactions by using specific targeted drugs. PMID:27355944

  6. Mesenchymal Stem and Progenitor Cells in Normal and Dysplastic Hematopoiesis—Masters of Survival and Clonality?

    Directory of Open Access Journals (Sweden)

    Lisa Pleyer

    2016-06-01

    Full Text Available Myelodysplastic syndromes (MDS are malignant hematopoietic stem cell disorders that have the capacity to progress to acute myeloid leukemia (AML. Accumulating evidence suggests that the altered bone marrow (BM microenvironment in general, and in particular the components of the stem cell niche, including mesenchymal stem cells (MSCs and their progeny, play a pivotal role in the evolution and propagation of MDS. We here present an overview of the role of MSCs in the pathogenesis of MDS, with emphasis on cellular interactions in the BM microenvironment and related stem cell niche concepts. MSCs have potent immunomodulatory capacities and communicate with diverse immune cells, but also interact with various other cellular components of the microenvironment as well as with normal and leukemic stem and progenitor cells. Moreover, compared to normal MSCs, MSCs in MDS and AML often exhibit altered gene expression profiles, an aberrant phenotype, and abnormal functional properties. These alterations supposedly contribute to the “reprogramming” of the stem cell niche into a disease-permissive microenvironment where an altered immune system, abnormal stem cell niche interactions, and an impaired growth control lead to disease progression. The current article also reviews molecular targets that play a role in such cellular interactions and possibilities to interfere with abnormal stem cell niche interactions by using specific targeted drugs.

  7. Melanin index in assessing the treatment efficacy of 1064 nm Q switched Nd-Yag laser in nevus of Ota

    Directory of Open Access Journals (Sweden)

    Gomathy Sethuraman

    2013-01-01

    Full Text Available Background: Q-switched neodymium-yttrium aluminium-garnet (Q switched Nd-Yag laser has been used in the treatment of nevus of Ota in all skin types with variable success rate. Data with an objective assessment parameter to this laser treatment is lacking. Objective: To evaluate the utility of melanin index in assessing the treatment response and also determine the efficacy and safety of the Q-switched Nd-Yag laser (1064-nm in the treatment of nevus of Ota in Fitzpatrick skin types IV and V. Materials and Methods: A total of 35 patients treated with Nd-Yag laser were studied. The objective improvement (pigment clearance was determined by melanin index from two fixed points: A1, 2 cm below the pupil at the mid pupillary line (when the gaze is fixed; A2, the most prominent part of zygoma. The melanin index in these two areas was recorded as M1 and M2, respectively. The subjective clinical improvement was determined by the physician and the patient global assessment score. Results: The mean baseline melanin indices M1 and M2 were 59.54 ± 9.72 and 59.02 ± 9.16, respectively. At the last visit the mean M1 and M2 decreased to 53.8 ± 8.55 (P 50% pigment clearance. Conclusion: The melanin index, a simple non-invasive parameter is useful in assessing the treatment response more objectively. The 1064-nm Q-switched Nd-Yag laser offers good improvement in patients with nevus of Ota in darker skin types IV/V.

  8. Intracranial intermediate-grade meningeal melanocytoma with increased cellular proliferative index: an illustrative case associated with a nevus of Ota.

    Science.gov (United States)

    Navas, Marta; Pascual, José M; Fraga, Javier; Pedrosa, Manuel; Shakur, Sophia; Carrasco, Rodrigo; Martínez, Pedro; Manzanares, Rafael; de Sola, Rafael García

    2009-10-01

    Solitary primary melanocytic tumors of the central nervous system (CNS) represent a spectrum of lesions ranging from well-differentiated melanocytoma to melanoma. The association of a meningeal melanocytoma with an ipsilateral nevus of Ota is extremely rare, with only six cases reported in the literature to date. Only a minority of melanocytic tumors correspond to lesions of intermediate-grade malignancy, whose biological behavior and outcome remain undetermined. We report a new case of a 25-year-old man with a giant fronto-temporal intracranial meningeal melanocytoma associated with a congenital nevus of Ota, who suffered an acute neurological deterioration requiring an emergent surgical procedure. Despite total removal of the lesion, the patient did not recover from the operation due to a malignant infarct of the right hemisphere. The lesion showed no histological criteria of malignancy but did exhibit an elevated (8%) MIB-1/Ki-67 cell proliferative index, which suggested an intermediate-grade melanocytoma. In addition, its metabolic profile, determined by in vivo proton magnetic resonance spectroscopy (MRS), was similar to that observed in most high-grade gliomas. To our knowledge, this is the first case of a meningeal melanocytoma of intermediate grade associated with a nevus of Ota reported in the literature. Only two additional intermediate-grade melanocytomas showing an elevated MIB-1/Ki-67 labeling index have been previously reported. The MIB-1/Ki-67 labeling index may have potential prognostic value in helping the clinician to predict an aggressive clinical behavior and/or malignant progression for primary melanocytic neoplasms of the CNS.

  9. Melanin Index in Assessing the Treatment Efficacy of 1064 nm Q Switched Nd-Yag Laser in Nevus of Ota

    Science.gov (United States)

    Sethuraman, Gomathy; Sharma, Vinod K; Sreenivas, Vishnubhatla

    2013-01-01

    Background: Q-switched neodymium-yttrium aluminium-garnet (Q switched Nd-Yag) laser has been used in the treatment of nevus of Ota in all skin types with variable success rate. Data with an objective assessment parameter to this laser treatment is lacking. Objective: To evaluate the utility of melanin index in assessing the treatment response and also determine the efficacy and safety of the Q-switched Nd-Yag laser (1064-nm) in the treatment of nevus of Ota in Fitzpatrick skin types IV and V. Materials and Methods: A total of 35 patients treated with Nd-Yag laser were studied. The objective improvement (pigment clearance) was determined by melanin index from two fixed points: A1, 2 cm below the pupil at the mid pupillary line (when the gaze is fixed); A2, the most prominent part of zygoma. The melanin index in these two areas was recorded as M1 and M2, respectively. The subjective clinical improvement was determined by the physician and the patient global assessment score. Results: The mean baseline melanin indices M1 and M2 were 59.54 ± 9.72 and 59.02 ± 9.16, respectively. At the last visit the mean M1 and M2 decreased to 53.8 ± 8.55 (P 50% pigment clearance. Conclusion: The melanin index, a simple non-invasive parameter is useful in assessing the treatment response more objectively. The 1064-nm Q-switched Nd-Yag laser offers good improvement in patients with nevus of Ota in darker skin types IV/V. PMID:24470713

  10. Comparative evaluation of eosinophils in normal mucosa, dysplastic mucosa and oral squamous cell carcinoma with hematoxylin-eosin, Congo red, and EMR1 immunohistochemical staining techniques

    Science.gov (United States)

    kargahi, Neda; Razavi, Sayyed Mohammad; Deyhimi, Parviz; Homayouni, Solmaz

    2015-01-01

    Background: Oral squamous cell carcinoma is the most common malignant lesion of the oral cavity, and it involves various molecular mechanisms. The development of oral squamous cell carcinoma is influenced by the host immune cells, such as eosinophils. The present study was conducted to compare the presence of eosinophils in normal mucosa, dysplastic mucosa, and oral squamous cell carcinoma by -hematoxylin- eosin staining, Congo red staining, and epidermal growth factor-like (EGF-like) module containing a mucin–like hormone receptor1 (EMR1) immunohistochemical marker. Methods: In this cross-sectional study, 60 paraffinized samples were selected, consisting of 20 normal mucosae, 20 dysplastic mucosae, and 20 squamous cell carcinoma samples. After confirmation of the diagnosis, the mean number of eosinophils was evaluated by hematoxylin-eosin, Congo red, and immunohystochemical staining techniques. The data were analyzed by SPSS-10 software using the Kruskal-Wallis and Friedman tests. Results: The results showed that the number of eosinophils in dysplastic mucosa was significantly higher than the number in normal mucosa, and the number of eosinophils in squamous cell carcinoma was significantly higher than the number in dysplastic mucosa in all staining techniques (p<0.001). Moreover, the comparison of staining techniques showed a significantly higher number of eosinophils in EMR1immunohistochemicalmarker than were observed when Congo red and hematoxylin - eosin (H&E) staining techniques were used (p<0.001). Conclusion: It can be argued that eosinophil contributes to the identification of lesions that have a higher potential of malignant transformation. Moreover, eosinophil can be suggested as an indicator in the differentiation of oral lesions in cases with borderline diagnosis and in targeted molecular therapy. PMID:26120409

  11. Dystopic dysplastic kidney with ectopic ureter: improved localization by fusion of MR urography and {sup 99m}Tc-DMSA SPECT datasets

    Energy Technology Data Exchange (ETDEWEB)

    Kreissl, Michael C.; Lorenz, Reinhard [University Clinic Wuerzburg, Clinic and Polyclinic of Nuclear Medicine, Wuerzburg (Germany); Ohnheiser, Gerd [University Clinic Wuerzburg, Zentrum Operative Medizin, Clinic and Polyclinic of Urology, Wuerzburg (Germany); Darge, Kassa [University Clinic Wuerzburg, Department of Paediatric Radiology, Institute of Radiodiagnosis, Wuerzburg (Germany)

    2008-02-15

    We report a 12-year-old girl with a long history of constant urinary dribbling and apparently only a left kidney. Using a multimodality approach involving the fusion of MR urography and {sup 99m}Tc-dimercaptosuccinic acid (DMSA) SPECT datasets, it was finally possible to exactly localize the very small dystopic, dysplastic right kidney and its ectopic ureter draining into the vagina. (orig.)

  12. Qualitative analysis of small (≤2 cm) regenerative nodules, dysplastic nodules and well-differentiated HCCs with gadoxetic acid MRI

    OpenAIRE

    Di Martino, M.; M. Anzidei; Zaccagna, Fulvio; Saba, L; Bosco, S.; M. Rossi; Ginanni Corradini, S.; Catalano, C

    2016-01-01

    $\\textbf{BACKGROUND}$: The characterization of small lesions in cirrhotic patients is extremely difficult due to the overlap of imaging features among different entities in the step-way of the hepatocarcinogenesis. The aim of our study was to evaluate the role of gadoxetic-acid MRI in the differentiation of small (≤2 cm) well-differentiated hepatocellular carcinomas from regenerative and dysplastic nodules. $\\textbf{METHODS}$: Seventy-three cirrhotic patients, with 118 focal liver lesion...

  13. Classification tool for the systematic histological assessment of hepatocellular carcinoma, macroregenerative nodules, and dysplastic nodules in cirrhotic liver

    Institute of Scientific and Technical Information of China (English)

    A Quaglia; MA Jutand; A Dhillon; A Godfrey; R Togni; P Bioulac-Sage; C Balabaud; M Winnock; AP Dhillon

    2005-01-01

    AIM: To design a classification tool for the histological assessment of hepatocellular carcinoma (HCC), dysplastic nodules (DN), and macroregenerative nodules (MRN) in cirrhotic liver.METHODS: Two hundred and twelve hepatocellular nodules (106 HCC;74 MRN;32 DN) were assessed systematically, quantitatively, and semiquantitatively as appropriate for 10 histological features that have been described as helpful in distinguishing small HCC, DN, and MRN in cirrhotic livers. The data were analyzed by multiple correspondence analysis (MCA).RESULTS: MCA distributed HCC, DN, and MRN as defined by traditional histological evaluation as well as the individual histological variables, in a "malignancy scale".Based on the MCA data representation, we created a classification tool, which categorizes an individual nodular lesion as MRN, DN, or HCC based on the balance of all histological features (i.e., vascular invasion, capsular invasion, tumor necrosis, tumor heterogeneity, reticulin loss,capillarization of sinusoids, trabecular thickness, nuclear atypia, and mitotic activity). The classification tool dassified most (83%) of a validation set of 47 nodules in the same way as the routine histological assessment. No discrepandes were present for DN and MRN between the routine histological assignment and the classification tool. Of 25 HCC assigned by routine assessment in the validation set, 8were assigned to the DN category by the classification tool.CONCLUSION: We have designed a classification tool for the histological assessment of HCC and its putative precursors in cirrhotic liver. Application of this tool systematically records histological features of diagnostic importance in the evaluation of small HCC.

  14. Theoretical Implications of Periacetabular Osteotomy in Various Dysplastic Acetabular Cartilage Defects as Determined by Finite Element Analysis

    Science.gov (United States)

    Xu, Meng; Qu, Wenrui; Wang, Yanbing; Zhong, Lei; Zhu, Zhe; Li, Wei; Zhao, Xin; Wang, Jincheng; Sun, Yu

    2016-01-01

    Background Different extents and locations of acetabular cartilage defect have been supposed to be a major cause of undesirable outcomes of periacetabular osteotomy (PAO) in patients with developmental dysplasia of the hip (DDH). This study aimed to verify whether different locations of cartilage deficiency affect the biomechanical environment in a three-dimensional model utilizing finite element analysis (FEA). Material/Methods We developed 3 DDH models – DDH-1 (normal shape), DDH-2 (superior defect), and DDH-3 (anterosuperior defect) – by deforming from a normal hip model. We also developed 3 PAO models – PAO-1, PAO-2, and PAO-3 – through rotating osteotomized fragments. Results The maximum von Mises stress in the normal hip was 13.06 MPa. In the DDH-1 model, the maximum value on the load-bearing area decreased from 15.49 MPa pre-PAO to 14.28 MPa post-PAO, while stresses in the DDH-2 and DDH-3 models were higher than in the DDH-1 model, both pre-PAO and post-PAO (30.46 MPa to 26.04 MPa for DDH-2; 33.89 MPa to 27.48 MPa for DDH-3). Conclusions This study shows that, both pre- and post-PAO, different types of cartilage deficiency affect the biomechanical environment. Furthermore, in dysplastic hips, obtaining accurate three-dimensional information about the acetabular cartilage can contribute substantially to PAO decision making. PMID:28017958

  15. Dysplastic Ichthyosis Uteri-like changes of the entire endometrium associated with a squamous cell carcinoma of the uterine cervix

    Directory of Open Access Journals (Sweden)

    Fadare Oluwole

    2006-05-01

    Full Text Available Abstract Ichthyosis uteri is an exceedingly rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. Originally described as an endometrial response to iatrogenically-introduced caustic substances, similar changes have since been described in association with a variety of inflammatory conditions of the endometrium. We describe herein a heretofore undescribed example of a moderately differentiated squamous cell carcinoma of the uterine cervix associated with extensive ichthyosis uteri-like changes of the entire adjacent endometrium. Additionally, the squamous epithelium of the latter also showed multifocal changes diagnostic of a low-grade squamous intraepithelial lesion. The potential genesis of this composite of findings is discussed, as is the neoplastic potential of ichthyosis uteri. It is concluded that a squamous cell carcinoma of the cervix extended proximally into the endometrium, and that there was a colonization of a pre-existing ichthyosis uteri by associated human papillomavirus. The possibility of significant cervical pathology should be considered when plaques of squamous epithelium with low grade dysplastic changes are identified in an endometrial biopsy or curettage.

  16. Paradoxical role of autophagy in the dysplastic and tumor-forming stages of hepatocarcinoma development in rats.

    Science.gov (United States)

    Sun, K; Guo, X-L; Zhao, Q-d; Jing, Y-y; Kou, X-r; Xie, X-q; Zhou, Y; Cai, N; Gao, L; Zhao, X; Zhang, S-s; Song, J-r; Li, D; Deng, W-j; Li, R; Wu, M-c; Wei, L-x

    2013-02-21

    Many reports have shown that autophagy has a role as both a promoter and inhibitor in tumor development. However, the mechanism of this paradox is unknown. Tumor development is a multistep process. Therefore, we investigated whether the role of autophagy in hepatocarcinoma formation depended on the stage of tumor development. Based on our results, autophagy inhibition by chloroquine had a tumor-promotive effect in the rat model with N-diethylnitrosamine-induced hepatocarcinogenesis in its dysplastic stage (Ds) and a tumor-suppressive effect in its tumor-forming stage (Ts). In the Ds, autophagy inhibition enhanced cell proliferation, DNA damage and inflammatory cytokines expression in liver. These changes were dependent on the upregulation of reactive oxygen species (ROS) that was resulted from autophagy inhibition, and ultimately accelerated the process of hepatocarcinogenesis. However, in the Ts, autophagy inhibition restrained tumor formation by decreasing tumor cell survival and proliferation. In this stage, autophagy inhibition led to excessive ROS accumulation in the tumor, which promoted cell apoptosis, and prominently suppressed tumor cell metabolism. Taken together, our data suggested that autophagy suppressed hepatocarcinogenesis in the Ds by protecting normal cell stability and promoted hepatocarcinogenesis in the Ts by supporting tumor cells growth. Autophagy always had a role as a protector throughout the process of hepatocarcinoma development.

  17. Multistep hepatocarcinogenesis from a dysplastic nodule to well-differentiated hepatocellular carcinoma in a patient with alcohol-related liver cirrhosis

    Institute of Scientific and Technical Information of China (English)

    Soo Ryang Kim; Yoshitake Hayashi; Hirotsugu Ikawa; Kenji Ando; Keiji Mita; Shuichi Fuki; Michiie Sakamoto; Yoshihiro Kanbara; Toshiyuki Matsuoka; Masatoshi Kudo

    2007-01-01

    We describe a rare case of the transformation of a dysplastic nodule into well-differentiated hepatocellular carcinoma (HCC) in a 56-year-old man with alcoholrelated liver cirrhosis. Ultrasound (US) disclosed a 10 mm hypoechoic nodule and contrast enhanced US revealed a hypovascular nodule, both in segment seven.US-guided biopsy revealed a high-grade dysplastic nodule characterized by enhanced cellularity with a high N/C ratio, increased cytoplasmic eosinophilia,and slight cell atypia. One year later, the US pattern of the nodule changed from hypoechoic to hyperechoic without any change in size or hypovascularity. US-guided biopsy revealed well-differentiated HCC of the same features as shown in the first biopsy, but with additional pseudoglandular formation and moderate cell atypia.Moreover, immunohistochemical staining of cyclaseassociated protein 2, a new molecular marker of well-differentiated HCC, turned positive. This is the first case of multistep hepatocarcinogenesis from a dysplastic nodule to well-differentiated HCC within one year in alcohol-related liver cirrhosis.

  18. [Precursors of acute leukemia: myelodysplastic syndromes and myeloproliferative neoplasms].

    Science.gov (United States)

    Kreipe, H H

    2011-11-01

    Myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) represent neoplastic proliferations of hematopoietic stem cells, which may progress to loss of differentiation and acute myeloid leukemia (AML). Transitions between MDSs and MPNs as well as combinations between both disorders occur and MPNs may acquire dysplastic features combined with cytopenia. Myelodysplastic/myeloproliferative neoplasms show dysplastic and myeloproliferative properties and have in common genetic aberrations at the stem cell level (TET2, ASXL 1, CBL, IDH 1, IDH 2, EZH2, p53, Runx1), which may be found in one cell or may affect different hematopoietic stem cells, expanding in parallel. Progress to AML follows a linear clonal evolution only in a subset of cases. Alternatively AML derives from secondary clones, devoid of any marker mutation or originates from a common aberrant progenitor cell which shares other but not the JAK2 ( V617F ) mutation.

  19. A split-face comparison of Q-switched Nd:YAG 1064-nm laser for facial rejuvenation in Nevus of Ota patients.

    Science.gov (United States)

    Yongqian, Cao; Li, Lin; Jianhai, Bi; Ran, Huo; Li, Guo; Hao, Wei; Xining, Wang; Shigang, Xie; Yibing, Wang

    2017-05-01

    We aimed to investigate the efficacy and safety of using the 1064-nm Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser (QSNYL) for skin rejuvenation in patients with Nevus of Ota. A retrospective, randomized, split-faced, clinical study was conducted. Twenty-nine patients with unilateral moderate to severe Nevus of Ota were enrolled. The participants completed 3-13 sessions of QSNYL treatments 3-6 months apart. Two independent physicians compared the treated and untreated sides of the face to evaluate the clearance of Nevus of Ota, the wrinkle severity rating scale (WSRS), the global aesthetic improvement scale (GAIS), and adverse event reporting. Patients' satisfaction levels were also considered. Of the 29 patients, 28 (96.6%) achieved nearly complete pigmentation clearance. After an average of 7.76 ± 2.99 sessions, statistically significant improvement in wrinkles and skin texture were observed, compared with the untreated side. The degree of skin rejuvenation was positively correlated with the number of treatment sessions. No clinically adverse effects were observed. Repeated QSNYL treatments not only remove the pigment in Nevus of Ota effectively and safely but also improve facial rejuvenation.

  20. A Retrospective Study on the Characteristics of Treating Nevus of Ota by 1064-nm Q-switched Neodymium-doped Yttrium Aluminum Garnet Laser

    Science.gov (United States)

    Liu, Yanting; Zeng, Weihui; Geng, Songmei

    2016-01-01

    Background: The Q-switched neodymium-doped yttrium aluminum garnet (QS Nd:YAG) laser has a significant effect in treating nevus of Ota, but there is lack of a retrospective study about the characteristics of efficacy. Aims and Objectives: To retrospectively analyze the correlation between the clinical characteristics and efficacy, complications, recurrence of QS Nd:YAG laser in treating nevus of Ota. Materials and Methods: One hundred and seventy-one Chinese patients (144 female, 27 male) of nevus of Ota were treated with the 1064-nm QS Nd:YAG laser. All cases were treated with fluencies of 4–8 J/cm2 and a spot size of 2–4 mm. Clinical photographs were taken before every treatment and patients were followed up by their clinicians. Results: One hundred and forty-five patients (84.8%) acquired more than 75% improvement with an average of 4.6 sessions. The treatment effect has no significant correlation with sex (P > 0.05). The blue-black and brown lesions improved more than the light-brown (P nevus of Ota. The efficacy correlated with lesion color, which is meaningful to estimate the prognosis. PMID:27293272

  1. Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report

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    Gayithri Harish Kulkarni

    2014-01-01

    Full Text Available Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome. Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice.

  2. Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report.

    Science.gov (United States)

    Kulkarni, Gayithri Harish; Khaji, Shahanavaj I; Metkari, Suryakant; Kulkarni, Harish S; Kulkarni, Reshma

    2014-07-01

    Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice.

  3. Intermediate-grade meningeal melanocytoma associated with nevus of Ota: a case report and review of the literature.

    Science.gov (United States)

    Shin, Donghoon; Sinha, Milind; Kondziolka, Douglas S; Kirkwood, John M; Rao, Uma N M; Tarhini, Ahmad A

    2015-08-01

    Meningeal melanocytomas are rare melanin-producing tumors that are often found to be benign. However, a small subset of these tumors can present as intermediate-grade melanocytomas (IGMs) that have histopathological features that are between those of benign melanocytomas and malignant melanomas. IGMs have the potential to recur and metastasize or progress to a more histologically high grade melanoma. Melanocytomas appear to differ from primary and metastatic melanoma by their prolonged clinical course and they appear to have different driver mutations (i.e. mutation of GNAQ gene). The association of a meningeal melanocytoma with nevus of Ota is extremely rare. To our knowledge, there have been only 10 reported cases of synchronous occurrence and only one of the cases involved an IGM. We report the second case of intermediate-grade meningeal melanocytoma that is associated with congenital nevus of Ota. Histopathological work-up confirmed the intermediate grade of the lesion and a driver GNAQ mutation was identified consistent with previous reports.

  4. Claudin11 Promoter Hypermethylation Is Frequent in Malignant Melanoma of the Skin, but Uncommon in Nevus Cell Nevi

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    Walesch, Sara K.; Richter, Antje M. [Institute for Genetics, Justus-Liebig-University Giessen, D-35392 Giessen (Germany); Helmbold, Peter [Department of Dermatology, University of Heidelberg, D-69120 Heidelberg (Germany); Dammann, Reinhard H., E-mail: reinhard.dammann@gen.bio.uni-giessen.de [Institute for Genetics, Justus-Liebig-University Giessen, D-35392 Giessen (Germany)

    2015-07-07

    Epigenetic inactivation of tumor-related genes is an important characteristic in the pathology of human cancers, including melanomagenesis. We analyzed the epigenetic inactivation of Claudin 11 (CLDN11) in malignant melanoma (MM) of the skin, including six melanoma cell lines, 39 primary melanoma, 41 metastases of MM and 52 nevus cell nevi (NCN). CLDN11 promoter hypermethylation was found in 19 out of 39 (49%) of the primary MM and in 21 out of 41 (51%) of the MM metastases, but only in eight out of 52 (15%) of NCN (p = 0.001 and p = 0.0003, respectively). Moreover, a significant increase in the methylation level of CLDN11 from primary melanomas to MM metastases was revealed (p = 0.003). Methylation of CLDN11 was significantly more frequent in skin metastases (79%) compared to brain metastases (31%; p = 0.007). CLDN11 methylation was also found in five out of six MM cell lines (83%) and its promoter hypermethylation correlated with a reduced expression. Treatment of MM cell lines with a DNA methylation inhibitor reactivated CLDN11 transcription by its promoter demethylation. In summary, CLDN11 proved to be an epigenetically inactivated tumor related gene in melanomagenesis, and analysis of CLDN11 methylation level represents a potential tool for assisting in the discrimination between malignant melanoma and nevus cell nevi.

  5. Nevo de Spitz: relato de caso e dermatoscopia Spitz nevus: a case report and the use of dermoscopy

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    Ana Maria Costa Pinheiro

    2010-08-01

    Full Text Available O nevo de Spitz é uma lesão melanocítica benigna com características clínicas e histopatológicas semelhantes às do melanoma. Foi descrito em 1948, mas até hoje, ainda, existe grande controvérsia no seu diagnóstico e conduta. A utilização da dermatoscopia pode aumentar a sua acurácia diagnóstica. As características dermatoscópicas do nevo de Spitz incluem um padrão estelar (starburst, que é o mais frequente, seguido do padrão globular e do padrão atípico. O diagnóstico deve ser confirmado por exame histopatológico, principalmente, nos casos atípicos.The Spitz nevus is a benign melanocytic lesion with clinical and histopathological features similar to those of melanoma. It was first described in 1948 but great controversy still remains today with respect to its diagnosis and management. The use of dermoscopy may increase diagnostic accuracy. In Spitz nevus, the most common dermoscopic finding is a starburst-like pattern, followed by globular and atypical patterns. Diagnosis must be confirmed by histopathology, particularly in atypical cases.

  6. Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature.

    Science.gov (United States)

    Luna, Paula C; Pannizardi, Anabel A; Martin, Carolina I; Vigovich, Felix; Casas, José G; Larralde, Margarita

    2016-05-01

    Papular epidermal nevus with skyline basal cell layer (PENS) is a recently described type of epidermal nevus with characteristic histopathologic findings, mainly regular, rectangular acanthosis and a well-demarcated basal cell layer with clear palisading and separation between basal cell nuclei and the first row of Malpighian cell nuclei. Although the first reports described randomly distributed lesions appearing sporadically in otherwise healthy patients, cases of Blaschkoid distribution, lesions associated with extracutaneous manifestations, and familial cases have been reported. We performed a review of the clinical charts of all patients with histologic diagnosis of PENS in our hospital. We evaluated epidemiologic, clinical, and histologic features. We then reviewed the literature with a particular emphasis on the presence or absence of extra-cutaneous associations. Three patients with PENS are described. One had a single lesion, one had three lesions, and one, a patient with mild developmental delay, a curved penis, and hypospadias, had multiple lesions. The probability of having extracutaneous manifestations is 6.3 times as great in individuals with more than four lesions. Therefore these patients may need closer follow-up. © 2016 Wiley Periodicals, Inc.

  7. Animal-type malignant melanoma associated with nevus of Ota in the orbit of a Japanese woman: a case report.

    Science.gov (United States)

    Nitta, Keisuke; Kashima, Tomoyuki; Mayuzumi, Hideyasu; Akiyama, Hideo; Miyanaga, Tomomi; Hirato, Junko; Kishi, Shoji

    2014-06-01

    We present a patient with an animal-type malignant melanoma associated with the nevus of Ota in the orbit who showed a good prognosis after a combination of orbital extirpation, chemotherapy, stereotactic radiotherapy, and gamma knife. A 42-year-old Japanese woman presented with two tumors, one pathologically diagnosed as right-sided intraconal animal-type malignant melanoma and the other intracranially, presumed to be of the same pathogenesis and both were considered to have arisen from the nevus of Ota. She underwent an extirpation of the orbit, chemotherapy (DAV therapy, which is a combination of dacarbazine, nimustine, and vincristine), stereotactic radiotherapy (54 Gy in 27 fractions), and gamma knife (marginal dose was 17 Gy, target volume was 0.2 ml). She has been alive for 33 months since the extirpation, with no sign of local recurrence, new metastasis, nor enlargement of the intracranial tumor. Not just combination therapy but also the low malignancy of animal-type melanoma may have contributed toward the good prognosis.

  8. Clinical analysis of 243 eases of nevus of Ota%243例太田痣临床分析

    Institute of Scientific and Technical Information of China (English)

    李林; 张丽; 谭志建

    2009-01-01

    regnancy. Conclusions Nevus of Ota may be a hereditary disease, and patients with pigmentary disorders are more likely to have descendants with nevus of Ota.%目的 对湖北及周边地区太田痣患者进行临床分析.方法 回顾分析243例太田痣患者在发病时间、色素性疾病家族史及患者母亲妊娠期间是否有用药史等方面进行统计学比较.结果 太田痣出生时发病者占58.0%,出生后发病者占42.0%,主要集中于5~15岁.有色素性疾病家族史者占60.1%,其中以雀斑和咖啡斑为主.患有太田痣与女性妊娠期间是否有用药史无明显关系.结论 太田痣可能具有遗传性,具有色素性疾病史的患者,其后代患太田痣的可能性较大.

  9. DIFFUSE PERIPAPILLARY CHOROIDAL MELANOMA THAT EVOLVED FROM A SMALL PRESUMED CHOROIDAL NEVUS SUCCESSFULLY TREATED WITH GAMMA KNIFE RADIOTHERAPY.

    Science.gov (United States)

    Duker, Jacob S; Duker, Jay S

    2016-01-01

    To report a case of diffuse peripapillary choroidal melanoma which began as a small choroidal nevus and was successfully treated with gamma knife radiotherapy. Observational case report. A 31-year-old visually asymptomatic man presented for a routine eye examination and was noted to have a small choroidal nevus. Six years later, the lesion had become a diffuse juxtapapillary choroidal melanoma with a thickness of 1.9 mm. Given the peripapillary location of the tumor with involvement of about 6 clock hours of the disk, Leksell Gamma Knife radiotherapy was performed. At 5.5 years after radiation therapy, visual acuity remained 20/20. The lesion thickness had decreased to 1.5 mm, and there was no interval growth of any margins. Small choroidal nevi carry low malignant potential but still deserve photographic documentation when possible with regular follow intervals. Gamma knife radiotherapy can be considered for tumors abutting the optic nerve, especially when plaque radiotherapy may be technically difficult.

  10. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

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    Yeliz Bilir

    2014-01-01

    Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts, the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

  11. Metastatic Basal cell carcinoma accompanying gorlin syndrome.

    Science.gov (United States)

    Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

  12. Effect of Q-switched Alexandrite laser irradiation on epidermal melanocytes in treatment of Nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    卢忠; 陈军庞; 王侠生; 方丽华; 焦圣; 黄雯

    2003-01-01

    Objective To investigate injury to epidermal melanocyte by Q-switched Alexandrite laser.Methods Multiple biopsies were performed on 5 patients with nevus of Ota from before irradiation to 1 year after irradiation. Fourteen specimens were obtained for light microscopy, and 17 for transmission electron microscopy.Results Melanosomes in epidermal melanocytes were both smaller in size and fewer in number than those in dermal melanocytes. Immediately after irradiation, focal extracellular vacuoles of the basal layer could be observed under light microscopy. Most epidermal melanocytes underwent mild or moderate injury in the form of vacuolated melanosomes, swollen mitochondria, dilation of endoplasmic reticulum, and expansion of extracellular space, retaining intact cell membranes. Normal structures were restored 5 months to 1 year after irradiation, with no depigmentation or hyperpigmentation as seen by light microscopy.Conclusion Injury of melanosomes in epidermal melanocytes is reversible.

  13. Usefulness of confocal microscopy in distinguishing between basal cell carcinoma and intradermal melanocytic nevus on the face.

    Science.gov (United States)

    Gamo, R; Floristan, U; Pampín, A; Caro, D; Pinedo, F; López-Estebaranz, J L

    2015-10-01

    The clinical distinction between basal cell carcinoma (BCC) and intradermal melanocytic nevus lesions on the face can be difficult, particularly in young patients or patients with multiple nevi. Dermoscopy is a useful tool for analyzing characteristic dermoscopic features of BCC, such as cartwheel structures, maple leaf-like areas, blue-gray nests and dots, and ulceration. It also reveals arborizing telangiectatic vessels and prominent curved vessels, which are typical of BCC, and comma vessels, which are typical of intradermal melanocytic nevi. It is, however, not always easy to distinguish between these 2 conditions, even when dermoscopy is used. We describe 2 facial lesions that posed a clinical and dermoscopic challenge in two 38-year-old patients; confocal microscopy showed separation between tumor nests and stroma and polarized nuclei, which are confocal microscopy features of basal cell carcinoma. Copyright © 2014 Elsevier España, S.L.U. y AEDV. All rights reserved.

  14. Nevomelanocytic atypia detection by in vivo reflectance confocal microscopy

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    Ingrida Vaišnorienė

    2014-01-01

    Conclusions: Nevus with histopathologically confirmed nevomelanocytic atypia (dysplastic nevus could not be distinguished from nevus without atypia using analyzed in vivo RCM features of melanocytic atypia. More accurate diagnostics by means of in vivo RCM needs further investigation on reflectance of single and nested cutaneous melanocytes in benign and malignant skin lesions.

  15. Nevo epidérmico manifestando-se como hiperceratose do mamilo e aréola Verrucous epidermal nevus manifesting as nipple and areola hyperkeratosis

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    Roberto Rheingantz da Cunha Filho

    2006-08-01

    Full Text Available Relata-se caso raro de nevo epidérmico na aréola mamária direita de menina de 13 anos. Segundo a classificação proposta por Levy-Franckel, essa variante é a hiperceratose do mamilo e aréola do tipo I, quando associada a nevo verrucoso. A histologia mostrou papilomatose, acantose e hiperceratose. Foram realizadas duas sessões de crioterapia sem melhora. Foi obtido bom resultado por meio de shaving e eletrocauterização.A rare case of a 13-year-old female patient with epidermal verrucous nevus on the right areola is reported. According to the Levy-Franckel classification, this variant is a type I nipple and areola hyperkeratosis, when associated to verrucous nevus. Histopathological examination showed papillomatosis, acanthosis and hyperkeratosis. Cryotherapy yielded unsatisfactory results after two sessions. A good result was obtained with shaving and electrocauterization.

  16. A preliminary report of the treatment of blue nevus with dermal injection of riboflavin and exposure to near-ultraviolet/visible radiation (ribophototherapy).

    Science.gov (United States)

    Sato, K; Sakakibara, N; Hasegawa, K; Minami, H; Tsuji, T

    2000-05-01

    Dye lasers are useful for treating pigmented skin lesions, but their equipment is expensive and bulky. A simple and cheap phototherapy would be acceptable to dermatologists for treating pigmented skin lesions such as nevus of Ota. We investigated as a pilot study whether dermal injection of riboflavin and exposure to near-ultraviolet/visible radiation (ribophototherapy) decreases the dermal pigment of blue nevi which are recalcitrant to laser therapy. The therapeutic efficacy was assessed by comparison of the amount of dermal pigment in hematoxylin-eosin specimens taken before and after treatment. Pigmentation of the nevus became faint to the depth of 1 mm with little noticeable epidermal change after 21 treatments. At the deeper dermis somewhere between 3 and 4 mm from the epidermis, ballooning degeneration of the dermal cells was observed in hematoxylin-eosin specimens. Ribophototherapy is hopeful for treating pigmented skin lesions.

  17. Association of giant congenital melanocytic nevus, halo nevus and vitiligo in a 75-year-old patient Associação de nevo melanocítico congênito gigante, nevo halo e vitiligo. Relato de caso em paciente de 75 anos

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    Marina Leite da Silveira

    2012-04-01

    Full Text Available A giant congenital melanocytic nevus represents a rare condition. The halo phenomenon may be seen in congenital or acquired melanocytic nevi. In the literature, association of halo nevus and giant congenital melanocytic nevus is rare and the association of both with vitiligo even more rare. A 75-yearold woman at first consultation complained of a hyperchromic bluish-brown hairy macula on the lower back, buttocks and thighs present since birth and an achromic halo of onset three years ago. The histological features were consistent with congenital melanocytic nevus and halo nevus, respectively. After two years the patient developed achromic areas in normal skin, histologically consistent with vitiligo. The authors emphasize the rarity of this triple combination, the patient's age and the absence of malignant degeneration to date.Nevo melanocitico congênito gigante constitui uma condição rara. O fenômeno halo pode ser observado em nevos melanocíticos congênitos ou adquiridos. Na literatura a associação nevo halo e nevo melanocítico congênito gigante é rara e a associação de ambos com vitiligo ainda mais rara. Mulher de 75 anos que à primeira consulta apresentava mácula hipercrômica castanho-azulada pilosa na região lombar, nádegas e coxas desde o nascimento e halo acrômico de aparecimento há 3 anos. Os histológicos foram compatíveis com nevo melanocítico congênito e nevo halo respectivamente. Após dois anos evoluiu com áreas de acromia à distância, com histológico de vitiligo. Os autores ressaltam a raridade desta tripla associação; a idade da paciente e a ausência de degeneração maligna até o presente momento.

  18. A retrospective study on the characteristics of treating nevus of ota by 1064-nm q-switched neodymium-doped yttrium aluminum garnet laser

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    Yanting Liu

    2016-01-01

    Full Text Available Background: The Q-switched neodymium-doped yttrium aluminum garnet (QS Nd:YAG laser has a significant effect in treating nevus of Ota, but there is lack of a retrospective study about the characteristics of efficacy. Aims and Objectives: To retrospectively analyze the correlation between the clinical characteristics and efficacy, complications, recurrence of QS Nd:YAG laser in treating nevus of Ota. Materials and Methods: One hundred and seventy-one Chinese patients (144 female, 27 male of nevus of Ota were treated with the 1064-nm QS Nd:YAG laser. All cases were treated with fluencies of 4–8 J/cm2 and a spot size of 2–4 mm. Clinical photographs were taken before every treatment and patients were followed up by their clinicians. Results: One hundred and forty-five patients (84.8% acquired more than 75% improvement with an average of 4.6 sessions. The treatment effect has no significant correlation with sex (P > 0.05. The blue-black and brown lesions improved more than the light-brown (P < 0.05. Hyperpigmentation affected two (1.2% of the patients and hypopigmentation affected one patient (0.6%. No other adverse effect was observed. Recurrence was seen in two patients (1.2%. Conclusion: The 1064-nm QS Nd:YAG laser is effective with rare complications and recurrence in the treatment of nevus of Ota. The efficacy correlated with lesion color, which is meaningful to estimate the prognosis.

  19. Nevo melanocítico congénito gigante: presentación de tres casos Giants congenital melanocytic nevus: Report of three cases

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    V Estrella

    Full Text Available Los Nevos Melanocíticos Congénitos (NMC son lesiones pigmentarias, que pueden aparecer en el nacimiento, aunque hay casos comunicados hasta el primer año de vida (Nevo Melanocítico Congénito Tardío. Presentan ciertas características clínicas y evolutivas de gran importancia: el compromiso estético de las formas gigantes, la asociación con melanocitosis meníngea y su transformación maligna de la lesión cutánea o meníngea. Presentamos tres casos de nevos melanocíticos congénitos gigantes. Cabe destacar, que el objetivo de este artículo es realizar una revisión del tema, orientar al seguimiento y control de los mismos y destacar la dificultad para su tratamiento debido a su gran tamaño.The Congenital Melanocytic Nevus are lesions melanocytic pigmented. Already apparent at birth but there are cases reported to the first year of life (Late Congenital Melanocytic Nevus. Certain features and evolution clinics that are important: the great compromise of aesthetic forms giant, meningeal melanocitosis association and its malignant transformation. We present three cases of Giants Congenital Melanocytic Nevus. It should be noted, that the purpose of this article is a review of the issue and guide the monitoring and control of them and point out the difficult treatment.

  20. 1064 nm Q switched Nd: YAG laser treatment of nevus of Ota: An Indian open label prospective study of 50 patients

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    Hemanta Kumar Kar

    2011-01-01

    Full Text Available Background: Nevus of Ota is very common in Asians. Estimated male to female ratio is 1:4.8. Patients seek treatment early in life due to psychological trauma and cosmetic disfigurement. The creation of high power, short pulse Q switched lasers has recently provided tools for considerable therapeutic advances in the treatment of dermal pigmented lesions. Aims: To determine the efficacy and side-effect profile of Q switched Nd:YAG Laser (QSNYL in fifty Indian patients. Methods: Fifty patients of nevus of Ota underwent multiple treatments (average 5 sessions at monthly intervals carried out over a period of 2 years with QSNYL (Med-lite C6. Of the 50 patients, 2 were males; and the rest were females. Skin types treated included phototype IV and V. The response after subsequent treatments was documented through serial photographs that were taken before and after every treatment session. Response to the treatment was graded based on quartile grading scale. Results: Near total improvement was seen in 8%, marked improvement in 22%, moderate improvement in 38% and 32% patients reported less than 25% clearing of the lesion. All patients reported some improvement. Transient postinflammatory hyperpigmentation was observed in 4 (8% patients, which cleared with use of sunscreens and bleaching agents within 2 months. No textural change or scarring was observed in any patient. Conclusions: QSNYL is an easy-to-perform and effective treatment in cases of nevus of Ota in Indian patients with few side effects.

  1. 太田痣的激光治疗进展%Update of laser in the treatment of nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    张凯; 姬瑜

    2015-01-01

    Since 1990 s, Q-switched and alexandrite laser has been used to treat nevus of Ota. In the last decades, with the development of laser and the update of treatment concept and equipment, the picosecond laser is used to treat nevus of Ota. This review summarizes the development of laser in the treatment of nevus of Ota.%自上个世纪90年代Q开关1064 nm Nd:YAG激光和755 nm翠绿宝石激光等开始应用于太田痣的治疗,经过近20年的发展,激光治疗的方法逐渐成熟,且治疗理念和治疗设备不断更新,新型的皮秒激光器被用于太田痣的治疗。本文就激光治疗太田痣的进展作一综述。

  2. Evaluation of translation in the normal and dysplastic hip using three-dimensional magnetic resonance imaging and voxel-based registration.

    Science.gov (United States)

    Akiyama, K; Sakai, T; Koyanagi, J; Yoshikawa, H; Sugamoto, K

    2011-06-01

    To elucidate in vivo hip instability by comparing normal hips to hips with acetabular dysplasia by evaluating three-dimensional (3D) translations of the femoral head center (FHC) at different hip positions using magnetic resonance imaging (MRI). Forty normal hips and 22 dysplastic female hips were examined. MRI was performed at four different positions bilaterally: neutral, 45° of flexion, 15° of extension, and the Patrick position. Femoral and pelvic bones were separately extracted at the neutral position and superimposed over the images of each different position using voxel-based registration. The distance between the acetabular center and FHC at neutral position was defined as 3D-migration. The distance between FHC at neutral position and that at each different position was defined as 3D-translation. Two-way repeated measures analysis of variance was performed to consider the dependency between right and left-side data, and multiple linear regression analyses were performed to assess independent relationships. The center-edge (CE) angle was the determinant for 3D-migration (β=-0.415, P=0.001), and there was a statistical significant difference in 3D-migration between normal female hips and dysplastic hips (P=0.047). From neutral to the Patrick position, the FHC of normal and dysplastic hips translated postero-infero-medially by 1.12±0.39mm (0.45-1.85mm) and 1.97±0.84mm (0.95-4.34mm), respectively, and the difference between the groups was statistically significant (P=0.005). CE angle was the determinant for 3D-translation from neutral to the Patrick position (β=-0.730, Ptranslation was 0.172mm and 0.193mm for intra- and interobserver reproducibility, respectively. Hip instability was increased in proportion to the severity of acetabular dysplasia. A 3D MRI voxel-based registration technique can show in vivo morphology and kinematics of the native hip without exposure to radioactivity. Copyright © 2011 Osteoarthritis Research Society International

  3. 不同波长激光对太田痣治疗的影响%The Treatment Effect of Different Bandwidths Laser on Nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    许成蓉; 张晓鸣; 陈映玲; 文莉

    2011-01-01

    To compare the Q-switch 755 nm and Q-switch 1 064 ran laser treatment of nevus of Ota' s efficacy and differences, and Investigate the reasons. Using Q-switch 755 nm and Q-switch 1 064 nm laser to give treatment to 637 cases of nevus of Ota. Observe the efficacy of each patient before and after the treatment, Evaluate the effect by the percentage of the pigment subsided. The results showed that Q-switch 755 nm and Q-switch 1 064 nm laser can both cure nevus of Ota safely and effectively. Q-switch755 nm laser was used to treat 297 cases of nevus of Ota, the effective rate is 83.5%. Q-switch 1 064 nm laser was used to treat 340 cases of nevus of Ota, the effective rate is 86.76% , there is no statistically significant difference in efficiency. However, 755 nm laser Q-switch effect on brown nevus of Ota is better than 1 064 nm Q-switch laser:755 nm group effective rate is 91.62% ; 1 064 nm group is 77.84% , x2 = 13. 89, P < 0.001, there is a significant difference, and the 1 064 nm Q-switch laser effect on the blue nevus of Ota is better than 755 nm laser Q-switch ; 755 nm group effective rate is 80. 54% ; 1 064 nm group is 92. 86% , there is a significant difference. And the 1 064 nm group postoperative pigmentation occur less than the 755 nm group.%本研究对比Q开关翠绿宝石755 nm激光和Q开关Nd:YAG1064 nm激光治疗太田痣的疗效和差别,探讨分析原因.分别用Q开关翠绿宝石755 nm激光和Q开关Nd:YAG1064 nm激光治疗637例太田痣患者,观察患者治疗前后疗效,根据色素减轻百分比进行评定.结果表明Q开关翠绿宝石755 nm激光和Q开关Nd:YAG1064 nm激光均能安全有效的治疗太田痣,Q开关翠绿宝石755 nm激光治疗太田痣297例,显效率为83.5%,Q开关Nd:YAG1064 nm激光治疗太田痣340例,显效率为86.76%,显效率没有统计学差异.但Q开关翠绿宝石755 nm激光对褐色太田痣疗效较高:755 nm组褐色显效率为91.62%;1064 nm组显效率为77.84%,统计学差

  4. Prenatal diagnosis of fetal dysplastic kidney with normal amniotic fluid volume by ultrasonography%羊水量正常时胎儿肾发育不良的超声诊断及临床意义

    Institute of Scientific and Technical Information of China (English)

    孟华; 姜玉新; 戴晴; 杨萌; 张一休; 朱庆莉; 陈彦

    2008-01-01

    other one was complicated with absence of the ipsilateral hand. One of the two fetuses of unilateral renal agenesis had no other associated anomaly and the other one was complicated with hydrocephalus,spina bifida,ipsilateral absent radius and single umbilical artery,correspongding to the VACTERL syndrome. Two fetuses of pelvic kidney and horseshoe kidney respectively was proved by postnatal ultrasound. One fetus was diagnosed as autosomal dominant polycystic kidney disease(ADPKD)on the basis of multiple renal cysts and a positive family history,the fetus also had cardiac rhabdomyoma. One fetus of bilateral normal sized hyperechoic kidneys was proved to be renal dysplasia by autopsy. Conclusions Unilateral MCKD is the most common type of fetal renal dysplasia which can be detected by prenatal ultrasound with normal amniotic fluid volume. Based on the sonographic characteristics and the family history,most of the dysplastic renal anomalies can be diagnosed prenatally and the prognosis can be predicted.

  5. Additional phenotypic features of Muenke syndrome in 2 Dutch families.

    Science.gov (United States)

    de Jong, Tim; Mathijssen, Irene M J; Hoogeboom, A Jeannette M

    2011-03-01

    In about 30% of the patients with syndromal craniosynostosis, a genetic mutation can be traced. For the purpose of adequate genetic counseling and treatment of these patients, the full spectrum of clinical findings for each specific mutation needs to be appreciated. The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes. A number of studies on the relationship between genotype and phenotype concerning this specific mutation have been published. Two Dutch families with Muenke syndrome were screened for the reported characteristics of this syndrome and for additional features. New phenotypical findings were hypoplasia of the frontal sinus, ptosis of the upper eyelids, dysplastic elbow joints with restricted elbow motion, and mild cutaneous syndactyly. Incidentally, polydactyly, severe ankylosis of the elbow, fusion of cervical vertebrae, and epilepsy were found. Upper eyelid ptosis is thought to be pathognomonic for Saethre-Chotzen syndrome but was also observed in our series of patients with Muenke syndrome. Because Muenke and Saethre-Chotzen syndrome can have similar phenotypes, DNA analysis is needed to distinguish between these syndromes, even when a syndrome diagnosis is already made in a family member.

  6. A case of McKusick-Kaufman syndrome

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    Se Hyung Son

    2011-05-01

    Full Text Available McKusick-Kaufman syndrome (MKS is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC and postaxial polydactyly (PAP. We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children’s Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasoundguided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

  7. Scheie syndrome

    Science.gov (United States)

    ... Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo syndrome) Causes Scheie syndrome ... Autosomal recessive Cloudy cornea Hearing loss Hurler syndrome Morquio syndrome Review Date 4/20/2015 Updated by: ...

  8. Expression of Phosphatase and Tensin Homologue, phospho-Akt, and p53 in Acral Benign and Malignant Melanocytic Neoplasms (Benign Nevi, Dysplastic Nevi, and Acral Melanomas)

    Science.gov (United States)

    Lyu, So Min; Wu, Ju Yeon; Byun, Ji Yeon; Choi, Hae Young; Park, Sang Hee

    2016-01-01

    Background The role of the phosphatidylinositol-3 kinase signaling pathway in the development of acral melanoma has recently gained evidence. Phosphatase and tensin homologue (PTEN), one of the key molecules in the pathway, acts as a tumor suppressor through either an Akt-dependent or Akt-independent pathway. Akt accelerates degradation of p53. Objective We assessed the expression of PTEN, phospho-Akt (p-Akt), and p53 by immunohistochemistry in benign acral nevi, acral dysplastic nevi, and acral melanomas in the radial growth phase and with a vertical growth component. Methods Ten specimens in each group were included. Paraffin-embedded specimens were immunostained with antibodies for PTEN, p-Akt, and p53. We scored both the staining intensity and the proportion of positive cells. The final score was calculated by multiplying the intensity score by the proportion score. Results All specimens of benign acral nevi except one showed some degree of PTEN-negative cells. The numbers of p-Akt and p53-positive cells were higher in acral dysplastic nevi and melanoma than in benign nevi. P-Akt scores were 1.7, 1.8, 2.6, and 4.4, and p53 scores were 2.0, 2.1, 3.8, and 4.1 in each group. PTEN and p-Akt scores in advanced acral melanoma were higher than in the other neoplasms. Conclusion The expression of PTEN was decreased and the expression of p-Akt was increased in acral melanoma, especially in advanced cases. The PTEN-induced pathway appears to affect the late stage of melanomagenesis. Altered expression of p-Akt is thought to be due to secondary changes following the loss of PTEN. PMID:27746632

  9. Induction of melasma by 1064-nm Q-switched neodymium:yttrium-aluminum-garnet laser therapy for acquired bilateral nevus of Ota-like macules (Hori nevus): A study on related factors in the Chinese population.

    Science.gov (United States)

    Wang, Ben; Xie, Hong-Fu; Tan, Jun; Xie, Hong-Ju; Xu, Lin-Yong; Ding, Rong; Liu, Fang-Fen; Chen, Xiang; Jian, Dan; Li, Ji

    2016-06-01

    Laser treatment has emerged as a common treatment modality for acquired bilateral nevus of Ota-like macules (ABNOM). To identify the ratio of melasma induction and exacerbation before and after laser therapy for ABNOM and to observe the risk factors related to the induction and exacerbation of melasma by laser therapy, we analyzed related factors of 1268 adult Chinese patients who underwent 1064-nm Q-switched neodymium:yttrium-aluminum-garnet (Nd:YAG) laser (QNYL) treatment using case series and case-control studies. Overall, 24.0% of the ABNOM patients had mixed melasma. Among the ABNOM patients without melasma, after laser therapy the development of melasma was more frequently noted in patients older than 35 years (P < 0.0001), as well in patients whose ABNOM was less than 10 cm(2) (P = 0.027), ABNOM were light (similar to yellow-brown) in color (P = 0.021) and skin types were closer to type IV (P < 0.0001). New melasma lesions also appeared most frequently in the zygomatic region (P < 0.0001). Among the ABNOM patients with melasma, 89.5% experienced worsening of their melasma, irrespective of their related factors above. We concluded that the risk of inducing melasma is great after 1064-nm QNYL treatment in ABNOM patients, and particularly in the patients with both ABNOM and melasma. ABNOM patients should be treated as early as possible and before the age of 35 years.

  10. 浅表脂肪瘤样痣1例%A Case of Nevus Lipomatosus Superficialis

    Institute of Scientific and Technical Information of China (English)

    李俊峰; 徐佳; 李鑫; 姜秋霞; 刘杰; 马俊平

    2012-01-01

    A 10-year-old girl had presented with papulae and plaque on the sacrococcygeal region for 9 years. Physical examination showed clustered soft papulae on die aacrococcygeal region with amber color,and anastomosis inequality of size. Two cicatrix were appearanced on center of erylhra with 1.0cm × 1.5cm. Histopathological examination showed hyperkeratinizalion, stratum spinosum hyperplasia, abnormal position adipocytes distributed in lamina superficialis and intercellular layer of dermis. A diagnosis of nevus lipomatosus superfi-cialis was established.%患者女,10岁.骶尾部丘疹、融合性斑块9年余.皮肤科情况:骶尾部可见簇集分布的米粒大淡黄色丘疹,质地柔软,融合成多处大小不等斑块或斑片,皮疹中央可见2处1.0cm×1.5cm大瘢痕增生.皮损组织病理示:表皮轻度角化过度,棘细胞层增生,真皮浅中层胶原束间可见成群分布异位脂肪细胞.诊断:浅表脂肪瘤样痣.

  11. Clinicopathological Features and Immunohistochemical Alterations of Keratinocyte Proliferation, Melanocyte Density, Smooth Muscle Hyperplasia and Nerve Fiber Distribution in Becker's Nevus

    Science.gov (United States)

    Sheng, Ping; Cheng, Yun-Long; Cai, Chuan-Chuan; Guo, Wei-Jin; Zhou, Ying; Shi, Ge

    2016-01-01

    Background Although Becker's nevus (BN) is a relatively common disease, the systematic studies of clinicopathological and immunohistochemical results are poorly reported. Objective To investigate the clinicopathological features and immunohistochemical alterations of keratinocyte proliferation, melanocyte density, smooth muscle hyperplasia and nerve fiber distribution in BN. Methods Clinical and pathological data were collected in 60 newly-diagnosed BN cases. Immunohistochemical stain of Ki-67, Melan-A, keratin 15, smooth muscle actin and protein gene product 9.5 was performed in 21 cases. Results The median diagnostic and onset age was 17 and 12 years, respectively. Skin lesions usually appeared on the upper trunk and upper limbs. The pathological features included the rete ridge elongation and fusion and basal hyperpigmentation. Epidermal Ki-67, Melan-A and keratin 15 expression and dermal nerve fiber length were significantly higher in lesional and perilesional skin than in normal skin (p<0.05~0.01), while smooth muscle actin expression was upregulated only in skin lesion (p<0.05). Conclusion Although the clinical diagnosis of BN is often straightforward, histopathology is helpful to differentiate from other pigmentary disorders. The hyperproliferation of keratinocytes, melanocytes, arrector pili muscle and dermal nerve fibers could be involved in the pathogenesis of BN. PMID:27904268

  12. A population-based study of acquired bilateral nevus-of-Ota-like macules in Shanghai, China.

    Science.gov (United States)

    Wang, Bei-Qing; Shen, Zheng-Yu; Fei, Ye; Li, Hong; Liu, Jian-Hang; Xu, Hui; Zhang, Zhen; Yu, Xiao-Hong; Chen, Xiang-Dong

    2011-02-01

    Acquired bilateral nevus-of-Ota-like macule (ABNOM) is a common skin dyspigmentation in Asian females. Although its clinical characteristics are well defined, its epidemiology and pathogenesis remain unclear. A large population-based cross-sectional study was conducted to determine the prevalence and risk factors of ABNOM. A total of 8,680 subjects (ages ranging from newborn to 99 years old; 54% female) were selected from urban areas in Shanghai, China, using a multistage sampling method. All participants (response rate=97%) were interviewed and examined for the presence of various pigmentary disorders by board-certified dermatologists. ABNOM was found in 2.5% of the study population (0.5% of males and 4.2% of females), and 90% of cases observed were female. In females, prevalence rose after the age of 15 years and sharply declined after the age of 50 years, with nearly half of the cases observed within ages 45-55 years (prevalence=8.5%). Age, contraceptive use, and sun exposure were independently associated with ABNOM. Women with ABNOM were less likely to have facial nevomelanocytic nevi and seborrheic keratoses. These findings indicate that sex hormone alteration and UV exposure may independently have an important role on the pathogenesis of ABNOM.

  13. Carbon dioxide laser versus erbium:YAG laser in treatment of epidermal verrucous nevus: a comparative randomized clinical study.

    Science.gov (United States)

    Osman, Mai Abdel Raouf; Kassab, Ahmed Nazmi

    2017-08-01

    A verrucous epidermal nevus (VEN) is a skin disorder that has been treated using different treatment modalities with varying results. Ablative lasers such as carbon dioxide laser (CO2) and erbium:yttrium-aluminum-garnet (Er:YAG) laser have been considered as the gold standard for the treatment of epidermal nevi. To evaluate and compare the efficacy, postoperative wound healing and side effects of pulsed CO2 laser and Er:YAG laser for the treatment of verrucous epidermal nevi. Twenty patients with localized VEN were randomly divided into two groups. Group 1 was administered CO2 laser and group 2 underwent Er:YAG laser treatment. A blinded physician evaluated the photographs and dermoscopic photomicrographs for the efficacy and possible side effects. All patients received one treatment session and were followed up over a 6-month period. Both lasers induced noticeable clinical improvement, but there were no significant differences between two lasers in treatment response, patient satisfaction, duration of erythema and side effects. The average time to re-epithelialization was 13.5 days with CO2 and 7.9 days with Er:YAG laser (p< .0005). No scarring was observed in Er:YAG laser group and no lesional recurrence was detected in CO2 laser group since treatment. Apart from re-epithelialization, both lasers showed equivalent outcomes with respect to treatment response, patient satisfaction, side effects and complications.

  14. 434例太田痣患者发病特征回顾性分析%Clinical features of 434 patients with Ota's nevus: a retrospective analysis

    Institute of Scientific and Technical Information of China (English)

    管青; 李喆; 曹川; 魏红; 陈亮; 李世荣

    2012-01-01

    目的 描述重庆及周边地区太田痣患者发病特征及变化规律.方法 收集第三军医大学西南医院整形美容科2006年1月至2011年1月临床确诊的太田痣患者434例(男性74例,女性360例;平均年龄24岁),对患者性别、年龄、发病年龄、发病时间、皮损颜色、分布及面积等情况进行统计学分析.结果 受调查患者男女比例为1∶4.86,后天患病者比例约为54.61%.后天患病者中,男性发病高峰出现在儿童早期(3~5岁),女性发病的两个高峰分别是5岁以前、10~14岁.近年来后天患者比例明显升高,病程长的患者黑色皮损比例较高.结论 重庆及周边地区近年太田痣的先后天发病比例随患病时间推移出现变化,皮损颜色与病程长短有关.%Objective To describe the clinical feature and changing rules of patients with Ota' s nevus in Chongqing and its surrounding areas. Methods Four hundred and thirty-four patients with Ota' s nevus at an average age of 24 (74 males and 360 females) admitted to our hospital from January 2006 to January 2011 were included in this study. Their sex, age, onset age of disease, onset time of disease, color of skin lesion, distribution and size of skin lesions were analyzed. Results The male to female ratio was 1:4. 86. The incidence of acquired Ota's nevus was about 54.61%. The occurrence of Ota's nevus was peaked at the age of 3 to 5 in males and at the age of < 5 years and 10 to 14 year in females. The percentage of patients with acquired disease and those with black skin lesions was significantly increased in resent years. Conclusion The incidence of congenital or acquired Ota' s nevus changes with its onset time in Chongqing and its surrounding areas. The color of skin lesion is related with the course of Ota' s nevus.

  15. Nevoid Basal-Cell Syndrome: literature review and case report in a family

    Directory of Open Access Journals (Sweden)

    Alfio José Tincani

    Full Text Available The Nevoid Basal-Cell Carcinoma Syndrome (NBCC, or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associated with other typical clinical and X-Ray anomalies of NBCC. The definitive treatment of NBCC has yet to be established, however, early diagnosis is very important as well as the periodical follow-up examination of ten patients, mainly due to the transformations in the skin lesions that may occur.

  16. Multiple primary cutaneous melanomas in patients with FAMMM syndrome and sporadic atypical mole syndrome (AMS): what's worse?

    Science.gov (United States)

    Tchernev, Georgi; Ananiev, Julian; Cardoso, José-Carlos; Chokoeva, Anastasiya Atanasova; Philipov, Stanislav; Penev, Plamen Kolev; Lotti, Torello; Wollina, Uwe

    2014-08-01

    Atypical Mole Syndrome is the most important phenotypic risk factor for cutaneous melanoma, a malignancy that accounts for about 80% of deaths from skin cancer. Since early diagnosis of melanoma is of great prognostic relevance, the identification of Atypical Mole Syndrome carriers (sporadic and familial) is essential, as well as the recommendation of preventative measures that must be undertaken by these patients.We report two rare cases concerning patients with multiple primary skin melanomas in the setting of a familial and a sporadic syndrome of dysplastic nevi: the first patient is a 67-year-old patient with a history of multiple superficial spreading melanomas localized on his back. The second patient presented with multiple primary melanomas in advanced stage in the context of the so-called sporadic form of the syndrome of dysplastic nevi-AMS (atypical mole syndrome). In the first case, excision of the melanomas was carried out with an uneventful post-operative period. In the second case, disseminated metastases were detected, involving the right fibula, the abdominal cavity as well as multiple lesions in the brain. The patient declined BRAF mutation tests as well as chemotherapy or targeted therapies, and suffered a rapid deterioration in his general condition leading to death. We classified the second case as a sporadic form of the atypical mole syndrome, associated with one nodular and two superficial spreading melanomas.There are no data in the literature to allow us to understand if, in patients with multiple primary melanomas, there is any difference in terms of prognosis between those with and without a family history of a similar phenotype. To answer this and other questions related to these rare cases, further studies with a significant number of patients should be carried out.

  17. Nevo melânico intradérmico do meato auditivo externo Intradermal melanocytic nevus of the external auditory canal

    OpenAIRE

    Renato V. Alves; Fabiano H. Brandão; José E. P. Aquino; Maria R. M. S. Carvalho; Suzana M. Giancoli; Eduado A. P. Younes

    2005-01-01

    Muito comuns, os nevos intradérmicos constituem um tumor cutâneo pigmentado benigno. Seu aparecimento no meato auditivo externo é inabitual. Os aspectos clínicos e histopatológicos dos nevos intradérmicos dentro do meato auditivo externo são apresentados e a literatura é revisada.Intradermal nevi are common benign pigmented skin tumors. Their occurrence within the external auditory canal is uncommon. The clinical and pathologic features of an intradermal nevus arising within the external audi...

  18. Nevo melânico intradérmico do meato auditivo externo Intradermal melanocytic nevus of the external auditory canal

    Directory of Open Access Journals (Sweden)

    Renato V. Alves

    2005-02-01

    Full Text Available Muito comuns, os nevos intradérmicos constituem um tumor cutâneo pigmentado benigno. Seu aparecimento no meato auditivo externo é inabitual. Os aspectos clínicos e histopatológicos dos nevos intradérmicos dentro do meato auditivo externo são apresentados e a literatura é revisada.Intradermal nevi are common benign pigmented skin tumors. Their occurrence within the external auditory canal is uncommon. The clinical and pathologic features of an intradermal nevus arising within the external auditory canal are presented, and the literature reviewed.

  19. Nodal Melanoma Metastasis under Infliximab Therapy in a Patient with Nevoid Melanoma First Misdiagnosed as Benign Nevus: A Potentially Dangerous Diagnostic Pitfall in the Era of Biologic Therapies

    Directory of Open Access Journals (Sweden)

    Gilles Safa

    2013-10-01

    Full Text Available We report the case of a 53-year-old Caucasian woman who developed nodal melanoma metastasis under infliximab therapy 2 years after the removal of a nevoid melanoma, which was initially misdiagnosed as a benign compound nevus. This case illustrates the potential link between tumor necrosis factor (TNF-α inhibition and the reactivation of latent melanoma. Furthermore, this case highlights the need for a complete skin examination before using anti-TNF-α therapy to rule out atypical malignant lesions or melanomas that can easily be missed because of presentations such as nevoid melanoma.

  20. Ellis-Van Creveld syndrome

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    Le Merrer Martine

    2007-06-01

    Full Text Available Abstract Ellis-van Creveld syndrome (EVC is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP and these SRPs, especially type III (Verma-Naumoff syndrome, are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.

  1. A randomized, split-face clinical trial of Q-switched alexandrite laser versus Q-switched Nd:YAG laser in the treatment of bilateral nevus of Ota.

    Science.gov (United States)

    Wen, Xiang; Li, Yong; Jiang, Xian

    2016-01-01

    Different types of Q-switched (QS) lasers have been used successfully to treat nevus of Ota. The purpose of this study was to compare the clinical efficacy and complication of QS alexandrite (QS Alex) laser versus QS neodymium:yttrium aluminum garnet (Nd:YAG) (QS Nd:YAG) laser for bilateral nevus of Ota. Seventeen patients with bilateral nevus of Ota were treated randomly with QS Alex in one half of face and QS Nd:YAG in the other half with an interval of at least 3 months between each. Subjective assessment was made by both patients and dermatologists. Patients were also examined for evidence of complications. All patients experienced improvement (p 0.05). The pain after a short period of laser therapy was more severe for QS Alex than for QS Nd:YAG laser. Vesicles developed in 1 patient after QS Alex therapy. Both QS Alex laser and QS Nd:YAG laser were equally effective at improving bilateral nevus of Ota. Patients tolerate QS Nd:YAG laser better than QS Alex laser.

  2. Myelodysplastic syndrome: classification and prognostic systems

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    Rosangela Invernizzi

    2011-12-01

    Full Text Available Myelodysplastic syndromes (MDS are acquired clonal disorders of hematopoiesis, that are characterized most frequently by normocellular or hypercellular bone marrow specimens, and maturation that is morphologically and functionally dysplastic. MDS constitute a complex hematological problem: differences in disease presentation, progression and outcome have made it necessary to use classification systems to improve diagnosis, prognostication and treatment selection. On the basis of new scientific and clinical information, classification and prognostic systems have recently been updated and minimal diagnostic criteria forMDS have been proposed by expert panels. In addition, in the last few years our ability to define the prognosis of the individual patient with MDS has improved. In this paper World Health Organization (WHO classification refinements and recent prognostic scoring systems for the definition of individual risk are highlighted and current criteria are discussed. The recommendations should facilitate diagnostic and prognostic evaluations in MDS and selection of patients for new effective targeted therapies.

  3. Role of diffusion-weighted imaging, apparent diffusion coefficient and correlation with hepatobiliary phase findings in the differentiation of hepatocellular carcinoma from dysplastic nodules in cirrhotic liver.

    Science.gov (United States)

    Inchingolo, Riccardo; De Gaetano, Anna Maria; Curione, Davide; Ciresa, Marzia; Miele, Luca; Pompili, Maurizio; Vecchio, Fabio Maria; Giuliante, Felice; Bonomo, Lorenzo

    2015-04-01

    To investigate the utility of diffusion-weighted imaging (DWI), apparent diffusion coefficient (ADC) and the correlation with hepatobiliary phase (delayed phase imaging, DPI) findings in the differentiation of cirrhotic hepatocellular nodules. Forty-three patients with 53 pathology-proven nodules (29 hepatocellular carcinomas (HCCs), 13 high-grade (HGDNs) and 11 low-grade dysplastic nodules (LGDNs); mean size 2.17 cm, range 1-4 cm), who underwent liver MRI with DWI and DPI sequences, were retrospectively reviewed. Lesions were classified as hypointense, isointense, or hyperintense relative to the adjacent liver parenchyma. ADC of each nodule, of the surrounding parenchyma, and lesion-to-liver ratio were calculated. Hyperintensity versus iso/hypointensity on DWI, hypointensity versus iso/hyperintensity on DPI, and the mean lesion-to-liver ratio showed a statistically significant difference both between HCCs versus DNs and between "HCCs + HGDNs" versus LGDNs (p Correlation of DWI with DPI improves differential diagnosis of cirrhotic nodules. • Characterization of atypically enhancing lesions becomes more confident.

  4. Role of diffusion-weighted imaging, apparent diffusion coefficient and correlation with hepatobiliary phase findings in the differentiation of hepatocellular carcinoma from dysplastic nodules in cirrhotic liver

    Energy Technology Data Exchange (ETDEWEB)

    Inchingolo, Riccardo; De Gaetano, Anna Maria; Curione, Davide; Ciresa, Marzia; Bonomo, Lorenzo [Catholic University of the Sacred Heart, Department of Bioimaging and Radiological Sciences, Institute of Radiology, ' ' Agostino Gemelli' ' Hospital, Rome (Italy); Miele, Luca; Pompili, Maurizio [Catholic University of the Sacred Heart, Department of Internal Medicine, ' ' Agostino Gemelli' ' Hospital, Rome (Italy); Vecchio, Fabio Maria [Catholic University of the Sacred Heart, Department of Anatomo-Pathology, ' ' Agostino Gemelli' ' Hospital, Rome (Italy); Giuliante, Felice [Catholic University of the Sacred Heart, Department of Surgery, ' ' Agostino Gemelli' ' Hospital, Rome (Italy)

    2015-04-01

    To investigate the utility of diffusion-weighted imaging (DWI), apparent diffusion coefficient (ADC) and the correlation with hepatobiliary phase (delayed phase imaging, DPI) findings in the differentiation of cirrhotic hepatocellular nodules. Forty-three patients with 53 pathology-proven nodules (29 hepatocellular carcinomas (HCCs), 13 high-grade (HGDNs) and 11 low-grade dysplastic nodules (LGDNs); mean size 2.17 cm, range 1-4 cm), who underwent liver MRI with DWI and DPI sequences, were retrospectively reviewed. Lesions were classified as hypointense, isointense, or hyperintense relative to the adjacent liver parenchyma. ADC of each nodule, of the surrounding parenchyma, and lesion-to-liver ratio were calculated. Hyperintensity versus iso/hypointensity on DWI, hypointensity versus iso/hyperintensity on DPI, and the mean lesion-to-liver ratio showed a statistically significant difference both between HCCs versus DNs and between ''HCCs + HGDNs'' versus LGDNs (p < 0.05); sensitivity, specificity, and accuracy for the diagnosis of ''HCCs + HGDNs'' were 96.8 %, 100 %, 97.4 % respectively when combining hyperintensity on DWI and hypointensity on DPI, and 90.9 %, 81.0 %, 83.6 % respectively when lesion-to-liver ratio was <0.95. Hyperintensity on DWI, especially in association with hypointensity on DPI, and low lesion-to-liver ratios should raise the suspicion of HCC, or at least of HGDN, thus helping the characterization of atypically enhancing lesions. (orig.)

  5. Er,CR:YSGG lasers induce fewer dysplastic-like epithelial artefacts than CO2 lasers: an in vivo experimental study on oral mucosa.

    Science.gov (United States)

    González-Mosquera, A; Seoane, J; García-Caballero, L; López-Jornet, P; García-Caballero, T; Varela-Centelles, P

    2012-09-01

    Our aim was to assess wounds made by lasers (CO(2) and Er,Cr:YSGG) for their epithelial architectural changes and width of damage. We allocated 60 Sprague-Dawley(®) rats into groups: glossectomy by CO(2) laser at 3 different wattages (n=10 in each); glossectomy by Er,Cr:YSGG laser at two different emissions (n=10 in each), and a control group (n=10). Histological examination assessed both prevalence and site of thermal artefacts for each group. Both lasers (CO(2) and Er,Cr:YSGG) caused the same type of cytological artefacts. The 3W Er,Cr:YSGG laser produced the fewest cytological artefacts/specimen, and was significantly different from the other experimental groups: 3W CO(2) laser (95% CI=0.8 to 1.0); the 6W CO(2) laser (95% CI=0.1 to 2.0) and the 10W CO(2) laser (95% CI=1.1 to 3.0). CO(2) lasers (3-10W) generate epithelial damage that can simulate dysplastic changes with cytological atypia that affects mainly the basal and suprabasal layers. Irradiation with Er,CR:YSGG laser (2-4W) produces significantly fewer cellular artefacts and less epithelial damage, which may be potentially useful for biopsy of oral mucosa.

  6. Dysplastic L5-S1 Spondyloptosis in a 3-Year-Old Child: A Case Report and Review of the Literature

    Science.gov (United States)

    Chhabra, Harvinder Singh; Nanda, Ankur

    2017-01-01

    A three-year-old girl presented with primary complaint of severe low back pain with radiation to both lower limbs below the knees since 2 months following history of fall and marked restriction of her daily routine activities. After clinicoradiological evaluation she was diagnosed of having dysplastic L5-S1 spondyloptosis. A staged procedure was planned after thorough discussion with her parents. During initial stage she underwent posterior decompression along L5-S1 segment including exposure of bilateral L5 and S1 nerve roots followed by instrumented reduction (L3-S2 5.5 mm pedicle screws) utilizing a rotational-translational technique. No interbody fusion was done at L5-S1 level and inner nuts of bilateral L3, L4, and S2 screws were intentionally kept loose. Subsequently after about symptom-free three-year follow up, she presented with recurrence of symptoms and underwent revision surgery as per initial plan discussed with her parents. Removals of posterior implants were done followed by stabilization with larger diameter pedicle screws (6.5 mm) at L5 and S1 level. During the same stage through anterior transperitoneal approach L5-S1 interbody fusion was done. At one-year follow-up after second-stage definitive surgery, patient remains symptom-free and fully active without any radiological evidence of reduction loss or implant failure. PMID:28357146

  7. Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: Linkage and loss of heterozygosity

    Energy Technology Data Exchange (ETDEWEB)

    Chenevix-Trench, G.; Wicking, C.; Berkman, J.; Sharpe, H.; Hockey, A.; Haan, E.; Oley, C.; Ravine, D.; Turner, A.; Searle, J. (and others)

    1993-09-01

    Nevoid basal cell carcinoma syndrome (NBCCS; basal cell nevus syndrome or Gorlin syndrome) is a cancer-predisposition syndrome characterized by multiple basal cell carcinomas (BCCs) and diverse developmental defects. The gene for NBCCS has been mapped to 9q23.1-q31 in North Americal and European families. In addition, loss of heterozygosity (LOH) for genetic markers in this region has been detected in sporadic BCCs, indicating that the NBCCs gene is probably a tumor-suppressor gene. In this study the authors have determined that the NBCCS gene is also linked to this region in Australasian pedigrees and that there is no significant evidence of heterogeneity. They have defined the localization of the gene by multipoint and haplotype analysis of 15 families, using four microsatellite markers. LOH at these loci was detected in 50% of sporadic BCCs, a rate that is significantly higher than that in other skin lesions used as controls. 21 refs., 3 figs., 2 tabs.

  8. Refined localization of the Prieto-syndrome locus

    Energy Technology Data Exchange (ETDEWEB)

    Martinez, F.; Prieto, F. [Unidad de Genetica, Valencia (Spain); Gal, A. [Universitaets-Krankenhaus Eppendorf, Hamburg (Germany)

    1996-07-12

    PRS designates the locus for a syndromal form of X-linked mental retardation (Prieto syndrome) characterized by minor facial anomalies, ear malformation, abnormal growth of teeth, clinodactyly, sacral dimple, patellar luxation, malformation of lower limbs, abnormalities of the fundus of the eye, and subcortical cerebral atrophy. Linkage analysis localized the disease locus between DXS84 (Xp21.1) and DXS255. Here we present additional linkage data that provide further support and refinement of this localization. Individual III-18 gave birth to a male, currently aged 2 7/12 years, who clearly shows delayed psychomotor development. He began to walk at 23 months and his speech is delayed. In addition, he shows the characteristic facial anomalies, {open_quotes}dysplastic{close_quotes} ears, sacral dimple, and clinodactyly, as do all other affected males in this family. 7 refs., 1 tab.

  9. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  10. Simultaneous utilization of different nuclear medical examinations in a patient with Klippel-Trenaunay syndrome - vs. proteus syndrome; Simultaner Einsatz verschiedener nuklearmedizinischer Verfahren bei Klippel-Trenaunay-Syndrom - vs. Proteus-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Rink, T.; Baum, R.P.; Hoer, G. [Klinik fuer Nuklearmedizin des Zentrums der Radiologie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Menzel, I.; Niemczyk, M.; Kaufmann, R. [Zentrum fuer Dermatologie und Venerologie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Fuchs, S. [Inst. fuer Humangenetik, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Heller, K. [Zentrum fuer Chirurgie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany)

    1997-08-01

    A three-year-old male patient presented already at his birth a disproportional macrosomia of the left foot and a large, nodular nevus flammeus, in the left hip region, which led to the tentative diagnosis of a Klippel-Trenaunay syndrome. In the following years, both changes showed a continuous progression, with distinct soft-tissue swelling as well as papillomatous and verruciform vegetations of the nevus. Additionally, large, plain subcutaneous masses developed under the right shoulder, and a macrodactyly of the first and second left toe could be observed. Although several examinations had been performed in the meantime, the tentative diagnosis could not be confirmed up to that time. On the occasion of a severe local infection in the hip region, which led to the consideration of a surgical therapy, a radionuclide lymphography, a blood pool scintigraphy including dynamic phlebography and ventriculography as well as a bone scintigraphy were performed. These examinations were done simultaneously at one day in order to avoid a longer period of immobilization. The findings led to the diagnosis of a large lymphangioma, which could be confirmed histologically after surgery. In consideration of all results, the basic disorder seems to be the rare proteus syndrome rather than a Klippel-Trenaunay syndrome. (orig.) [Deutsch] Bei einem dreijaehrigen Jungen fiel bereits bei der Geburt ein dysproportionierter Ueberwuchs des linken Fusses sowie ein grosser Naevus flammeus mit nodulaeren Veraenderungen im Bereich der linken Huefte auf, so dass der Verdacht auf ein Klippel-Trenaunay-Syndrom geaeussert wurde. Im Laufe der weiteren Entwicklung kam es zu einer kontinuierlichen Progredienz dieser Befunde, mit deutlicher Weichteilschwellung sowie papillomatoesen und verruziformen Vegetationen des Naevus. Darueber hinaus entwickelte sich auch unterhalb der rechten Schulter eine grossflaechige, flache Raumforderung sowie eine Makrodaktylie der I. und II. Zehe links. Trotz zahlreicher

  11. Expression of heat shock proteins (HSP27, HSP60, HSP70, HSP90,GRP78, GRP94) in hepatitis B virus-related hepatocellular carcinomas and dysplastic nodules

    Institute of Scientific and Technical Information of China (English)

    Seung Oe Lim; Cheol Keun Park; Sung Gyoo Park; Jun-Hi Yoo; Young Min Park; Hie-Joon Kim; Kee-Taek Jang; Jae Won Cho; Byung Chul Yoo; Gu-Hung Jung

    2005-01-01

    AIM: Expression of heat shock proteins (HSPs) is frequently up-regulated in hepatocellular carcinoma (HCC), which evolves from dysplastic nodule (DN) and early HCC to advanced HCC. However, little is known about the differential expression of HSPs in multistep hepatocarcinogenesis. It was the purpose of this study to monitor the expression of HSPs in multistep hepatocarcinogenesis and to evaluate their prognostic significance in hepatitis B virus (HBV)related HCC.METHODS: Thirty-eight HCC and 19 DN samples were obtained from 52 hepatitis B surface antigen-positive Korean patients. Immunohistochemical and dot immunoblot analyses of HSP27, HSP60, HSP70, HSP90, glucoseregulated protein (GRP)78, and GRP94 were performed and their expression at different stages of HCC development was statistically analyzed.RESULTS: Expression of HSP27, HSP70, HSP90, GRP78, and GRP94 increased along with the stepwise progression of hepatocarcinogenesis. Strong correlation was found only in GRP78 (Spearman's r= 0.802). There was a positive correlation between the expressions of GRP78, GRP94, HSP90, or HSP70 and prognostic factors of HCC. Specifically, the expression of GRP78, GRP94, or HSP90 was associated significantly with vascular invasion and intrahepatic metastasis.CONCLUSION: The expressions of HSPs are commonly up-regulated in HBV-related HCCs and GRP78 might play an important role in the stepwise progression of HBVrelated hepatocarcinogenesis. GRP78, GRP94, and HSP90 may be important prognostic markers of HBV-related HCC, strongly suggesting vascular invasion and intrahepatic metastasis.

  12. Qualitative analysis of small (≤2 cm) regenerative nodules, dysplastic nodules and well-differentiated HCCs with gadoxetic acid MRI.

    Science.gov (United States)

    Di Martino, Michele; Anzidei, Michele; Zaccagna, Fulvio; Saba, Luca; Bosco, Sandro; Rossi, Massimo; Ginanni Corradini, Stefano; Catalano, Carlo

    2016-11-11

    The characterization of small lesions in cirrhotic patients is extremely difficult due to the overlap of imaging features among different entities in the step-way of the hepatocarcinogenesis. The aim of our study was to evaluate the role of gadoxetic-acid MRI in the differentiation of small (≤2 cm) well-differentiated hepatocellular carcinomas from regenerative and dysplastic nodules. Seventy-three cirrhotic patients, with 118 focal liver lesions (≤2 cm) were prospectively recruited. MRI examination was performed with a 3T magnet and the study protocol included T1 - and T2-weighted pre-contrast sequences and T1 -weighted gadoxetic-acid enhanced post-contrast sequences obtained during the arterial, venous, late dynamic and hepatobiliary phases. All lesions were pathologically confirmed. Two radiologists blinded to clinical and pathological information evaluated two imaging datasets; another radiologist analysed the signal intensity characteristics of each lesion. Sensitivity, specificity and diagnostic accuracy were considered for statistical analysis. Good agreement was reported between the two readers (κ 0.70). Both readers reported a significantly improved sensitivity (57.7 and 66.2 vs 74.6 and 83.1) and diagnostic accuracy (0.717 and 0.778 vs 0.843 and 0.901) with the adjunction of the hepatobiliary phase 57.7 vs 74.6 and 66.2 vs 83.1 (p ≤ 0.04). Gadoxetic-acid MRI is a reliable tool for the characterization of HCC and lesions at high risk to further develop.

  13. Reproducibility of the World Health Organization 2008 criteria for myelodysplastic syndromes

    Science.gov (United States)

    Senent, Leonor; Arenillas, Leonor; Luño, Elisa; Ruiz, Juan C.; Sanz, Guillermo; Florensa, Lourdes

    2013-01-01

    The reproducibility of the World Health Organization 2008 classification for myelodysplastic syndromes is uncertain and its assessment was the major aim of this study. The different peripheral blood and bone marrow variables required for an adequate morphological classification were blindly evaluated by four cytomorphologists in samples from 50 patients with myelodysplastic syndromes. The degree of agreement among observers was calculated using intraclass correlation coefficient and the generalized kappa statistic for multiple raters. The degree of agreement for the percentages of blasts in bone marrow and peripheral blood, ring sideroblasts in bone marrow, and erythroid, granulocytic and megakaryocytic dysplastic cells was strong (P<0.001 in all instances). After stratifying the percentages according to the categories required for the assignment of World Health Organization subtypes, the degree of agreement was not statistically significant for cases with 5-9% blasts in bone marrow (P=0.07), 0.1-1% blasts in peripheral blood (P=0.47), or percentage of erythroid dysplastic cells (P=0.49). Finally, the interobserver concordance for World Health Organization-defined subtypes showed a moderate overall agreement (P<0.001), the reproducibility being lower for cases with refractory anemia with excess of blasts type 1 (P=0.05) and refractory anemia with ring sideroblasts (P=0.09). In conclusion, the reproducibility of the World Health Organization 2008 classification for myelodysplastic syndromes is acceptable but the defining criteria for blast cells and features of erythroid dysplasia need to be refined. PMID:23065505

  14. [Uncommon acne-associated syndromes and their significance in understanding the pathogenesis of acne].

    Science.gov (United States)

    Hong, J-B; Prucha, H; Melnik, B; Ziai, M; Ring, J; Chen, W

    2013-04-01

    Acne is an intriguing model for the study of interactions between hormones, innate immunity, inflammation and wound healing (scarring). The manifestations and involvement of acne in different systemic diseases and some rare syndromes demonstrate its multifaceted nature. Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) and Pyogenic Arthritis-Pyoderma gangrenosum-Acne (PAPA) syndromes, both regarded as autoinflammatory diseases, highlight the attributes of inflammation in acne. While SAPHO syndrome can be used to explore the pathogenic role of Propionibacterium acnes in acne, PAPA syndrome and Apert syndrome can help understand the genetic influence on acne. The genetic defects in the gain-of-function of FGFR2 mutations in Apert syndrome and acne nevus of Munro lend further support to the hypothesis that the interaction of forkhead box class O (FoxOs)-mediated transcriptional regulation with androgen receptor transactivation and insulin/insulin like growth factor-1(IGF-1)-signaling is crucial in acne pathogenesis. Novel biologics, such as tumor necrosis factor (TNF) blockers and IL-1 inhibitors, appear promising in opposing the inflammation associated with SAPHO and PAPA syndromes, but it remains to seen if they can also improve severe acne particularly in the long term.

  15. 调Q激光治愈太田痣后复发病例分析%Clinical research on recurrence of nevus of Ota after successful treatment with Q-switch lasers

    Institute of Scientific and Technical Information of China (English)

    翁伟丽; 李勤; 余文林

    2012-01-01

    目的:研究调Q激光治愈太田痣后复发情况,了解复发可能存在的原因.方法:对经治愈的1 510 例太田痣患者进行随访,对24例复发的太田痣病例进行回顾性分析.结果:太田痣复发患者中,女性居多,均为育龄期妇女,大部分复发前有妊娠史,另一部分患者复发前有过度日晒史.男性患者中,复发前有过度日晒病史.女性患者复发率较男性高,差异具有统计学意义.Ⅲ型太田痣复发率最高,各型复发率相比差异均有统计学意义.初次就诊并开始治疗的年龄大多数在青少年时期,治愈后平均经过6.5 年出现复发.复发患者再次治疗仍有效.结论:复发是太田痣激光治疗后的一个并发症,其发生与性激素、日晒及治疗次数不足有关.%Objective: To retrospectively analyze recurrence of nevus of Ota after successful treatment with Q-switched lasers and investigate the possible reasons for recurrence. Methods: The clinical data from 1 510 patients with nevus of Ota were analyzed retrospectively, which had been treated since November 1997 in our department, while 24 cases of recurrence of the nevus of Ota patients were evaluated retrospectively. Results: In 24 cases of recurrence, 22 cases were women, most of which had recurrence of their nevus after pregnancy, and part had recurrence after a history of overexposure to sun. For male patients, they had a history of overexposure to sun. The recurrence rate of female was much higher than that of male, and the difference was statistically significant. Nevus of Ota of type M had the highest recurrence rate. The 24 cases relapsed after an average of 6.5 years, and effectiveness after recurrence could achieve again with Q-switched lasers. Conclusion: Recurrence is an important complication after laser treatment in nevus of Ota, which is due to hormones, sun exposure and inadequate treatment.

  16. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... exogenous Cushing syndrome . Prednisone, dexamethasone, and ...

  17. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  18. EARLY DIAGNOSIS OF MYELODYSPLASTIC SYNDROMES USING CLONAL ANALYSES

    Institute of Scientific and Technical Information of China (English)

    钱军; 薛永权; 虞斐; 吴亚芳; 潘金兰; 陆定伟

    2002-01-01

    Objective: To study the value of clonal analysis to the early diagnosis of myelodysplastic syndrome (MDS). Methods: Four types of clonal analyses were performed on the bone marrow samples from 50 patients suspected of MDS: (1) Conventional Cytogenetics (CC) for clonal chromosomal abnormalities; (2) BrdU-Sister Chromatid Differentiation (BrdU-SCD) for cell cycle kinetics; (3) Fluorescence in Situ Hybridization (FISH) for trisomy 8; (4) Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) for N-ras mutation. Results: The diagnosis of forty-three patients was compatible with the FAB criteria for MDS. The other seven cases didn't meet the FAB criteria, with only one lineage of dyspoiesis or with no obvious dysplastic changes. Among these seven cases, two were morphologically diagnosed with suspicious refractory anemia, one with sideroblastic anemia, one with leukemoid reaction, one with hypercellular anemia and two with chronic aplastic anemia. Clonal analyses of the 7 patients showed that six cases had clonal karyotype abnormalities, four had prolonged cell cycle patterns, four had trisomy 8 of different proportions and one had mutation of the exon 1 of N-RAS. Thus, they were revaluated as MDS patients. Conclusion: The untypical MDS patients with one lineage dyspoiesis or without obvious dysplastic changes can be diagnosed early by combining multiple clonal analysis techniques such as CC, SCD, FISH and PCR-SSCR.

  19. Nevo da epidermólise bolhosa: caso clínico e revisão da literatura Epidermolysis bullosa nevus: case report and literature review

    Directory of Open Access Journals (Sweden)

    Carolina Porto Cotrim

    2011-08-01

    Full Text Available Lesões melanocíticas adquiridas assemelhando-se à melanoma têm sido descritas nos principais grupos da Epidermólise bolhosa, e referidas como "Nevos da Epidermólise bolhosa''. Induzem facilmente ao erro diagnóstico, apesar de nenhuma transformação maligna ter sido descrita. Relatamos o desenvolvimento de um nevo melanocítico adquirido grande no local de bolhas recorrentes em uma criança de 5 anos portadora de Epidermólise bolhosa simples. O padrão dermatoscópico global foi sugestivo de benignidade, e os achados histopatológicos foram compatíveis com um nevo melanocítico composto. Este é o primeiro caso de um Nevo da Epidermólise bolhosa publicado na literatura brasileiraAcquired melanocytic lesions resembling malignant melanoma have been described in all major categories of Epidermolysis bullosa and referred to as "Epidermolysis bullosa nevi''. They easily induce to diagnostic error, although no malignant transformation has been reported. We report the development of a large acquired melanocytic nevus at a site of recurrent blisters in a 5-year-old child with Epidermolysis bullosa simplex. The global dermoscopic pattern was suggestive of benignity, and the histopathological findings were compatible with a compound melanocytic nevus. This is the first published case of Epidermolysis bullosa nevi in Brazilian literature. Despite their benign behavior, we emphasize the importance of regular clinical and dermoscopic monitoring, since a malignant course still cannot be totally excluded

  20. Neuroimaging features of Cornelia de Lange syndrome.

    Science.gov (United States)

    Whitehead, Matthew T; Nagaraj, Usha D; Pearl, Phillip L

    2015-07-01

    Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented. To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome. The CT/MR database at a single academic children's hospital was searched for the terms "Cornelia," "Brachmann" and "de Lange." The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist. All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord. Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present.

  1. A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

    Directory of Open Access Journals (Sweden)

    Buket Uysal Aladag

    2013-06-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate. A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atrophy, hair (sparse hair and eye brows, teeth (small, absent or dysplastic teeth, nails (nail dystrophy and exocrine glands (reduction/ absence of sweat, sebaceous and salivary glands. A multidisciplinary approach for treatment is needed which is co-ordinated by orthopedic, plastic, dental surgeons, ophthalmologist, dermatologists and speech therapists, psychologists. We presented EEC syndrome case with hydrocephaly by the literature. [Cukurova Med J 2013; 38(3.000: 531-535

  2. Gardner Syndrome

    Science.gov (United States)

    ... Home > Types of Cancer > Gardner Syndrome Request Permissions Gardner Syndrome Approved by the Cancer.Net Editorial Board , 06/2014 What is Gardner syndrome? Gardner syndrome is a subtype of familial ...

  3. Interleukin-10 Genotype Correlated to Deficiency Syndrome in Hepatitis B Cirrhosis

    Directory of Open Access Journals (Sweden)

    Qing-Ya Li

    2012-01-01

    Full Text Available Traditional Chinese medicine (TCM syndrome is an important basis for TCM diagnosis and treatment. As Child-Pugh classification as well as compensation and decompensation phase in liver cirrhosis, it is also an underlying clinical classification. In this paper, we investigated the correlation between single nucleotide polymorphisms (SNPs of Interleukin-10 (IL-10 and TCM syndromes in patients with hepatitis B cirrhosis (HBC. Samples were obtained from 343 HBC patients in China. Three SNPs of IL-10 (−592A/C, −819C/T, and −1082A/G were detected with polymerase chain-reaction-ligase detection reaction (PCR-LDR. The result showed the SNP-819C/T was significantly correlated with Deficiency syndrome (P=0.031, but none of the 3 loci showed correlation either with Child-Pugh classification and phase in HBC patients. The logistic regression analysis showed that the Excess syndrome was associated with dizzy and spider nevus, and the Deficiency syndrome was associated with dry eyes, aversion to cold, IL-10-819C/T loci, and IL-10-1082A/G loci. The odds ratio (OR value at IL-10-819C/T was 4.022. The research results suggested that IL-10-819C/T locus (TC plus CC genotype is probably a risk factor in the occurrence of Deficiency syndrome in HBC patients.

  4. Spitzoid melanoma in a child with Li-Fraumeni syndrome.

    Science.gov (United States)

    Kollipara, Ramya; Cooley, Linda D; Horii, Kimberly A; Hetherington, Maxine L; Leboit, Philip E; Singh, Vivekanand; Zwick, David L

    2014-01-01

    Spitzoid melanoma of childhood is a rare malignancy. The histological features are at the upper end of a range encompassing Spitz nevus and atypical Spitz tumor, the unifying features including large oval, fusiform or polygonal melanocytes with abundant homogeneous-appearing cytoplasma and large vesicular nuclei. The presence of a "bottom-heavy" pattern, strikingly enlarged nuclei and nucleoli in both the upper and lower portions of the lesion, and deep mitotic figures are among the findings that distinguish most of the Spitzoid melanomas from Spitz nevi and atypical Spitz tumors. There are no syndromic associations reported for this malignancy. We report the occurrence of choroid plexus carcinoma, Spitzoid melanoma, and myelodysplasia in a child who was found to carry a germline mutation for TP53. While choroid plexus carcinoma and myelodysplasia have relatively frequently been described, melanomas have been very rarely described in Li-Fraumeni syndrome. The association of Spitzoid melanoma with Li-Fraumeni syndrome, especially in a pediatric patient, has not been reported before.

  5. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications...

  6. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

    Science.gov (United States)

    Shen, Wenjing; Han, Dong; Zhang, Jin; Zhao, Hongshan; Feng, Hailan

    2011-09-01

    Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous EVC2 mutations, IVS5-2A > G and c.2653C > T (Arg885X), were identified in the patient. The IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family.

  7. Meckel-Gruber Syndrome: Autopsy Based Approach to Diagnosis

    Directory of Open Access Journals (Sweden)

    Asaranti Kar

    2016-01-01

    Full Text Available Meckel-Gruber syndrome (MGS is a rare lethal congenital malformation affecting 1 in 13,250-140,000 live births. The classical diagnostic triad comprises multicystic dysplastic kidneys, occipital encephalocele, and postaxial polydactyly. It can variably be associated with other malformations such as cleft lip and palate, pulmonary hypoplasia, hepatic fibrosis, and anomalies of central nervous system. A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly, microphthalmia, hypertelorism, cleft lip and palate, neonatal teeth, and the right side club foot which were detected only after doing autopsy. This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death, especially where the antenatal diagnosis has not been made previously. A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.

  8. Estudo comparativo da flarefotometria em pacientes com melanoma maligno e nevo de coróide Comparative study of flare photometry in patients with choroidal malignant melanoma and choroidal nevus

    Directory of Open Access Journals (Sweden)

    Priscilla Luppi Ballalai

    2002-01-01

    Full Text Available Introdução: Os tumores malignos intra-oculares estão associados com um aumento do "flare" na câmara anterior, causado por uma quebra na barreira hemato-aquosa, que pode ocorrer por vários mecanismos. Estudos utilizando a flarefotometria confirmam o aumento do "flare" em olhos com tumores intra-oculares malignos e benignos. Objetivo: Avaliar a flarefotometria como auxiliar no diagnóstico diferencial de melanoma maligno e nevo de coróide, comparando-se com olhos contralaterais normais. Métodos: Foram avaliados olhos com melanoma maligno e olhos com nevo de coróide diagnosticados por meio de oftalmoscopia indireta e/ou ultra-sonografia. Os olhos normais contralaterais foram utilizados como controles. A flarefotometria foi realizada em todos os pacientes, sob midríase bilateral, utilizando equipamento Laser Flare Meter (FC 500, Kowa. Foram aplicados os testes de Wilcoxon, Mann-Whitney, e Spearman para análise estatística. Resultados: A média da flarefotometria nos olhos com melanoma maligno de coróide foi 17,1 ph/ms e nos olhos normais contralaterais foi 4,06 ph/ms. Nos olhos com nevo de coróide o valor da flarefotometria foi 6,12 ph/ms e nos olhos contralaterais normais foi 4,47 ph/ms. O valor da flarefotometria foi maior nos olhos com melanoma maligno e nevo quando comparado com os olhos contralaterais normais (pIntroduction: Malignant intraocular tumors are associated with an increase in the aqueous flare, caused by alterations of the blood-ocular barriers through various mechanisms. Several studies have demonstrated an ocular flare increase using flare photometry in eyes with benign and malignant tumors. Purpose: To evaluate flare photometry as an adjunct method in the differential diagnosis of choroidal malignant melanoma and choroidal nevus comparing to normal control eyes. Methods: Eyes with melanoma and nevus were diagnosed by indirect binocular ophthalmoscopy and/or ultrasound were evaluated. The fellow normal eyes were used

  9. Physical state and expression of HPV DNA in benign and dysplastic cervical tissue: different levels of viral integration are correlated with lesion grade.

    Science.gov (United States)

    Hudelist, Gernot; Manavi, Mahmood; Pischinger, Kerstin I D; Watkins-Riedel, Thomas; Singer, Christian F; Kubista, E; Czerwenka, Klaus F

    2004-03-01

    episomal form. In CIN III/CIS, 15 of 30 cases of HPV16 (50%) and 16 of 17 cases of HPV18 (94%) were exclusively integrated into the host genome. Like HPV16/18, HPV31, 33, 52b and 58 were also present in the episomal form in normal epithelium and in CIN I and II, but were integrated in 80% of the CIN III/CIS (4/5) cases. Absent integration of HPV16 DNA in some CIN III/CIS suggests that integration is not always required for progression early dysplastic lesions. In contrast, integration of HPV type 18 and others appears to be of major importance for the transforming efficacy of cervical dysplasia. The applied method represents a sensitive instrument to assess the physical state of HPV and is useful to predict the progression of disease.

  10. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  11. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  12. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  13. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  14. Fahr's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Fahr's Syndrome Information Page Fahr's Syndrome Information Page What research is being done? ... and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to ...

  15. Sturge-Weber syndrome. Early manifestation and visualization of disease course; Sturge-Weber-Syndrom. Fruehmanifestation und Verlauf in der Bilddiagnostik

    Energy Technology Data Exchange (ETDEWEB)

    Stranzinger, E.; Huisman, T.A.G.M. [Universitaets-Kinderklinik, Abteilung Bilddiagnostik, Zuerich (Switzerland)

    2007-12-15

    The purpose of this study was to evaluate ultrasound, MRI, and CT investigations in children with Sturge-Weber syndrome. From 1996 to 2005, a total of 15 investigations of the brain performed in 6 children with Sturge-Weber syndrome were reviewed. We evaluated four ultrasound, five CT, and six MRI exams. With ultrasound an increase of the echogenicity of the periventricular white matter was depicted in the first days of life. MRI is the best modality to demonstrate the vascular malformation, the impaired cerebral venous drainage, and the atrophy of one hemisphere. One-sided periventricular hyperechogenicity on ultrasound can be an early sign of Sturge-Weber syndrome in children with a nevus flammeus. MRI is the method of choice to diagnose Sturge-Weber syndrome and to follow up these children if the neurological status of the patients changes. (orig.) [German] Mit dieser Studie wurden die fruehen Veraenderungen des Sturge-Weber-Syndroms im MRT, CT und Ultraschall verglichen und im zeitlichen Verlauf ausgewertet. Von 1996-2005 wurden bei 6 Kindern mit Sturge-Weber-Syndrom 15 bildgebende Untersuchungen des Gehirns ausgewertet. Es konnten 4 Ultraschall-, 5 CT- und 6 MRT-Untersuchungen analysiert werden. Mit der Sonographie kann eine periventrikulaere Echogenitaetserhoehung dokumentiert werden. Die MRT ist die beste Methode, um eine einseitige vaskulaere Malformation darzustellen. Einseitige Echogenitaetserhoehungen bei Kindern mit einem Naevus flammeus koennen fruehe Zeichen einer vaskulaeren Malformation bei Sturge-Weber-Syndrom sein. Die MRT ist die beste Methode, um das Sturge-Weber-Syndrom abzuklaeren und eignet sich fuer Verlaufskontrollen, falls eine Aenderung des neurologischen Befundes auftritt. (orig.)

  16. Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome

    Directory of Open Access Journals (Sweden)

    Glen J. Weiss

    2011-12-01

    Full Text Available Tumor responses in advanced basal cell carcinoma (BCC have been observed in clinical trials with vismodegib, a SMO antagonist. The result of SMO antagonism is inhibition Hedgehog Signaling Pathway (HHSP downstream target genes. HHSP inhibition has been shown to affect stem cells responsible for blood, mammary, and neural development. We report on our experience of treating two patients with advanced BCC participating. These two patients have had no new BCCs develop for at least 2.25 years. Both patients have been receiving ongoing daily treatment with vismodegib for greater than 2.75 years without experiencing any significant side effects. After prolonged continuous daily dosing with a SMO antagonist, we have not observed a significant alteration in hematologic parameters or physical abnormalities of the pectoral regions of two patients with advanced BCC.

  17. Q开关激光治疗太田痣的临床分析%Clinical Analysis of Q Switch Laser in Treatment of Nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    高微

    2015-01-01

    Objective To analyze the clinical effect of Q switch laser in treating patients with too much field mole.Methods To adopt the Q switch Nd:YAG 1 064 nm laser treatment on 280 patients.ResultsWith the increase of the number of patients with treatment the cure rate and total effective rate increased more than 6 times,the treatment,the cure rate was 96.7%,the total efficiency of 100%. Conclusion The Q switch Nd:YAG 1 064 nm laser in treatment of nevus of ota high.%目的:分析Q开关激光治疗太田痣的临床疗效。方法对280例太田痣患者采取Q开关Nd:YAG 1064 nm激光治疗。结果随着治疗次数的增加患者痊愈率及总有效率随之提高,治疗6次以上,痊愈率96.7%,总有效率100%。治疗后无瘢痕。结论 Q开关Nd:YAG 1064 nm激光治疗太田痣疗效高。

  18. Oral Infection by Staphylococcus Aureus in Patients Affected by White Sponge Nevus: A Description of Two Cases Occurred in the Same Family

    Directory of Open Access Journals (Sweden)

    Massimo Marrelli, Marco Tatullo, Gianna Dipalma, Francesco Inchingolo

    2012-01-01

    Full Text Available Introduction. White Sponge Nevus (WSN is a rare pathology with a pathogenesis on genetic basis, a benign course and a localization affecting the mucosal keratin.WSN is usually a symptomless pathology: when pain is present, some authors reported reduction of symptoms by taking penicillin or oral tetracycline rinses, suggesting that a bacterial overinfection could be at the base of possible painful symptoms.Case Report. We describe 2 patients affected by WSN, father and son: they presented two different oral diseases associated with an infection by Staphylococcus aureus. So, we have performed a careful oral hygiene to reduce infection in the oral cavity. In the following days we prescribed 2 rinses a day with a mouthwash containing chlorhexidine digluconate at two different percentages.Discussion. Early diagnosis of this lesion is important, because it allows us to exclude other more serious diseases. In the most part of cases, WSN requires no treatment because of its benign and asymptomatic behaviour: up to now, no protocol of treatment for this condition was standardized. Even if WSN is a painless condition, sometime a correlated painful symptomatology was reported.Conclusions. In our experience, we have achieved excellent results even with chlorhexidine digluconate rinses, considering that our treated cases were both infected by Staphylococcus aureus.We hypothesize that the corrugated plaques and the altered texture of the mucosa create the right conditions for the colonization and the development of microbial species such as saprophytic bacteria or fungal species.

  19. Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: a novel variant of the "phacomatosis complex".

    Science.gov (United States)

    Castori, Marco; Scarciolla, Oronzo; Morlino, Silvia; Manente, Liborio; Biscaglia, Assunta; Fragasso, Alberto; Grammatico, Paola

    2012-02-01

    The term "phacomatosis" refers to a growing number of sporadic genetic skin disorders characterized by the combination of two or more different nevi and possibly resulting from non-allelic twin spotting. While phacomatosis pigmentovascularis (PPV) and pigmentokeratotica represent the most common patterns, some patients do not fit with either condition and are temporarily classified as unique phenotypes. We report on an 8-year-old boy with striking right hemihypoplasia, resulting in limb asymmetry and fixed dislocation of right hip. Skin on the affected side showed three distinct nevi: (i) A whorled, hairless nevus of the scalp in close proximity with (ii) epidermal hyperpigmentation following lines of Blaschko on the neck and right upper limb, and (iii) multiple telangiectatic nevi of the right lower limb and hemiscrotum. Didymosis atricho-melanotica was proposed for the combination of adjacent patchy congenital alopecia and linear hyperpigmentation, while phacomatosis atricho-pigmento-vascularis appears to define the entire cutaneous phenotype, thus implying the involvement of three neighboring loci influencing the development of distinct constituents of the skin. Given the striking asymmetry of the observed phenotype, the effect of mosaicism (either genomic or functional) for a mutation in a single gene with pleiotropic action and influenced by the lateralization pattern of early development cannot be excluded.

  20. Deletion 22q13.3 syndrome

    Directory of Open Access Journals (Sweden)

    Phelan Mary C

    2008-05-01

    Full Text Available Abstract The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH or array comparative genomic hybridization (CGH is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy. Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements

  1. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  2. 维纳斯QS1064nm激光治疗太田痣临床分析%Clinical analysis of nevus of ota treated by Versa Pulse QS1064nm laser

    Institute of Scientific and Technical Information of China (English)

    林维嘉; 柯晓苹; 王勉; 蔡良其; 李永红

    2011-01-01

    Objective To observe the long-term effect and adverse reactions of Versa Pulse QS1064nm laser therapy on nevus of ota. Methods 67 cases of nevus of ota were treated with Versa Pulse QS1064nm laser and were followed up for 3~6 years. Results Treated for 1~7 times and followed up for 3~6 years,27 cases were cured (40%),32 cases showed marked improvement(48%),4 cases showed effective improvement(7%),3 cases showed noneffective improvement (5%), the total effective rate was 95%,without scar formation and other severe adverse reactions. Conclusions The long-term clinical effect of Versa Pulse QS1064nm laser therapy on nevus of ota is excellent.adverse reactions are less and slight. The therapy is safe and high effective.%观察维纳斯QS 1064nm激光治疗太田痣的远期疗效及不良反应.方法:采用维纳斯QS 1064nm激光治疗太田痣67例,随访3~6年.结果:经1~7次治疗后,随访观察3~6年,27例痊愈(占40%),32例显效(占48%),5例有效(占7%),3例疗效差(占5%),总有效率95%,无瘢痕等严重不良反应.结论:维纳斯QS 1064nm激光治疗太田痣远期临床疗效佳,不良反应轻且少,是一种安全、高效的治疗方法.

  3. The therapeutic effect analysis of 1496 cases in the treatment of nevus of Ota by Q-switch Nd:YAG laser%Q开关Nd:YAG激光治疗太田痣1496例疗效分析

    Institute of Scientific and Technical Information of China (English)

    李朝惠; 尹锐; 邓军; 程良金; 黄义森; 杨利

    2011-01-01

    目的:回顾性分析Q开关Nd:YAG激光治疗仪治疗太田痣的疗效和安全性.方法:分析2006年3月~2011年3月笔者科室运用Q开关激光仪治疗1 496例太田痣患者的临床疗效,根据治疗前后照片进行对比分析.结果:1 496例太田痣经4~10次治疗,痊愈1311例,显效132例,有效53例,总有效率为100%.12例出现一过性色素沉着,所有患者均未出现严重不良反应.结论:Q开关Nd:YAG激光治疗太田痣安全、有效,治疗次数与疗效成正比相关,治疗次数越多,效果越好.%Objective To evaluate the clinical effect and safety of nevus of Ota by Q-switch Nd:YAG laser. Methods The clinical data of 1496 cases of nevus of ota treated by Q-switch laser were retrospectively analyzed from March, 2006 to March 2011 in our department. Results 1496 cases of nevus of Ota were treated by 4-10 times,1311 cases were completely cured. 132 cases showed good effect. 53 cases showed effect. All effect rate was 100%.12 cases showed hyperpigmentation There was no severe side effect. Conclusion Q-switched Nd:YAG laser Medlite C6 is effective in treatment of vevus of Ota.Proportional to the treatment number was associated with the efficacy of treatment. The more treatment times can get better effects.

  4. Clinical observation of alexandrite laser in the treatment of nevus of Ota%紫翠宝石755 nm激光治疗太田痣的疗效观察

    Institute of Scientific and Technical Information of China (English)

    师军涛; 刘亚丽

    2014-01-01

    目的:观察紫翠宝石755 nm激光治疗太田痣的疗效及美容效果。方法129例太田痣患者接受紫翠宝石755 nm激光治疗,共治疗4~6次,治疗间隔2~3个月。结果129例患者中4次治疗有效率为93.0%(120例),6次治疗后有效率为98.4%(127例)。结论紫翠宝石755 nm激光治疗太田痣疗效肯定,所有患者治疗后反应轻微,且均无永久色素改变、瘢痕、皮肤质地改变、创面感染及其他严重不良反应,美容效果较佳。%Objective To observe the efficacy and cosmetic effect of alexandrite 755 nm laser therapy on nevus of Ota. Methods One hundred and twenty-nine cases with nevus of Ota were treated by alexandrite 755 nm laser for 4 to 6 times, and the treatment interval was 2 to 3 months. Results The effective rate was 93.0%(120 cases) after 3 times treatment, and effective rate was 98.4%(127cases) after 6 times treatment. Conclusion Alexandrite 755 nm laser was proved to be effective with good cosmetic Results in treating nevus of Ota, and adverse reactions were slight without permanent pigment changes, scarring, skin texture change, wound infection and other serious adverse reactions.

  5. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  6. Clinical analysis of different energy lasers cured 298 patients of nevus of ota%多波长激光治愈298例太田痣临床分析

    Institute of Scientific and Technical Information of China (English)

    张海水; 张褒佳; 郭金华; 杨菊

    2001-01-01

    采用美国科以人公司维纳斯多波长激光治疗太田痣983例,其中治愈298例。本文着重介绍治疗方法、皮损程度与治愈所需时间的关系。%983 patients of Nevus of ota were treated with the American Venus different energy lasers and 298 cases was cured.To review the treatment method and relationshop between degree of skin injured and times need of cure.

  7. Neuroimaging features of Cornelia de Lange syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Whitehead, Matthew T. [Department of Radiology, Washington, DC (United States); Nagaraj, Usha D. [Department of Radiology, Washington, DC (United States); Cincinnati Children' s Hospital, Department of Radiology, Cincinnati, OH (United States); Pearl, Phillip L. [Department of Radiology, Washington, DC (United States); Boston Children' s Hospital, Department of Neurology, Boston, MA (United States)

    2015-08-15

    Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented. To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome. The CT/MR database at a single academic children's hospital was searched for the terms ''Cornelia'', ''Brachmann'' and ''de Lange.'' The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist. All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord. Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present. (orig.)

  8. DiGeorge syndrome with vertebral and rib dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Puno-Cocuzza, C.; David, K.; Kogekar, N. [Brooklyn Hospital Center, NY (United States)

    1994-09-01

    DiGeorge syndrome results from defect in the development of the third and fourth pharyngeal pouches, and is characterized by conotruncal heart defects, aplasia or hypoplasia of thymus and parathyroid glands resulting in immune deficiency and hypocalcemia. Other associated abnormalities include renal, thyroid and diaphragmatic defects, oral clefting, etc. Etiologically, it is heterogeneous, with a microdeletion of 22q11 present in over 80% of cases. Our patient was born following a pregnancy complicated by insulin dependent gestational diabetes. There was truncus arteriosus type 2, absense of thymic shadow on CXR with severe deficiency of T cell function, and persistent hypocalcemia with low parathormone. Right kidney was absent. Dysplastic ribs including fused and bifid ribs were noted. Hypoplastic vertebrae and hemivertebrae were present through thoracic and lumbar regions. Chromosome analysis was normal, and metaphase FISH analysis with probe N25 representing locus D22S75 did not show any deletion of 22q11.2. The skeletal findings similar to these have not been previously reported in association with DiGeorge syndrome to our knowledge. Vertebral and rib abnormalities are known to occur with pregestational maternal diabetes. Maternal diabetes has also been suggested to be a possible etiology in a very small proportion of DiGeorge syndrome cases. It is possible that these findings occured together on account of gestational maternal diabetes in our case.

  9. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

    Science.gov (United States)

    Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M

    2017-04-01

    Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

  10. Basal cell carcinoma appearing in a facial nevus sebaceous of Jadassohn: dermoscopic features Carcinoma basocelular aparecendo em um nevo sebáceo de Jadassohn: características dermatoscópicas

    Directory of Open Access Journals (Sweden)

    Maria Leonor Enei

    2012-08-01

    Full Text Available The nevus sebaceous of Jadassohn usually affects the face or scalp. It tends to evolve in three stages, and the final stage is characterized by the appearance of tumours. We present the case of a facial nevus sebaceous of Jadasshon in which a basal cell carcinoma developed. We also explore the diagnosis of this disease, which was established through dermoscopy, and propose using this technique in the clinical follow-up of this type of hamartoma, thereby allowing the early detection of cancer development.O nevo sebáceo de Jadassohn geralmente afeta a face ou o couro cabeludo. A sua tendência natural é evoluir em três estágios, sendo que o estágio final é caracterizado pelo aparecimento de tumores. Apresentamos o caso de um nevo sebáceo de Jadassohn na face a partir do qual um carcinoma basocelular se desenvolveu. Também abordamos o diagnóstico dessa doença, estabelecido por meio da dermatoscopia. Sugerimos a utilização dessa técnica no acompanhamento clínico desse hamartoma, permitindo assim a detecção precoce de um câncer.

  11. 太田痣激光治疗后复发的相关因素研究进展%Review on the related factors of recurrence after laser treatment of nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    鲁茜雅(综述); 王育珏; 涂亚庭; 杨井(审校)

    2016-01-01

    Nevus of Ota is a former of dermal melanocytic disease.Although Q-switched lasers provide effective treatment, there are still some cases recurred. The recurrence rate is about 0.6%-1.2%. The recurrence time is about 10 months to10 years after treatment. The reasons of Nevus of Ota recurrence involoved in ultraviolet radiation, hormone levels,inadequate number of treatment sessions and therapy area .%太田痣是一种发生于真皮的色素增加性疾病。调Q激光能有效治疗太田痣,但仍然有一定的复发率(0.6%~1.2%)。太田痣的复发时间一般为治疗后的10个月~10年。太田痣的复发主要与紫外线照射、性激素水平、治疗次数及治疗面积不足等因素有关。

  12. Syndromic autism: II. Genetic syndromes associated with autism

    National Research Council Canada - National Science Library

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M

    2005-01-01

    ..., tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert...

  13. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  14. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  15. Paraneoplastic Syndromes

    Science.gov (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  16. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  17. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  18. Lynch Syndrome

    Science.gov (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. http://www.nature.com/nrc/journal/vaop/ncurrent/ ...

  19. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  20. Meckel syndrome

    National Research Council Canada - National Science Library

    Salonen, R; Paavola, P

    1998-01-01

    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases...

  1. Angelman Syndrome

    Science.gov (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  2. Apert Syndrome.

    Science.gov (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  3. Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation.

    Science.gov (United States)

    Balci, Sevim; Tekşen, Fulya; Dökmeci, Fulya; Cengiz, Bora; Cömert, Ruhi Bariş; Can, Bilge; Ozdamar, Sükrü

    2004-01-01

    We report a 23-week-old male fetus affected by Meckel-Gruber syndrome. Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks' gestation, and lobar holoprosencephaly was demonstrated on postmortem magnetic resonance imaging (MRI) prior to autopsy. After the termination of the pregnancy, polycystic dysplastic kidneys were also noted at postmortem investigation. The proband was the product of the fourth pregnancy of a consanguineous family in which all three siblings were also similarly affected. Interestingly, both the two-year-old affected sister and 23-week-old male fetus had Dandy-Walker complex.

  4. Learning about Down Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  5. Velocardiofacial Syndrome

    Science.gov (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  6. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  7. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  8. Wallenberg's Syndrome

    Science.gov (United States)

    ... Information Page You are here Home » Disorders » All Disorders Wallenberg's Syndrome Information Page Wallenberg's Syndrome Information Page What ... better ways to prevent, treat, and ultimately cure disorders such as Wallenberg’s syndrome. Information from the National Library of Medicine’s ...

  9. Refeeding syndrome.

    Science.gov (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  10. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  11. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  12. Myelodysplastic syndromes: recent progress in diagnosis and understanding of their pathophysiology.

    Science.gov (United States)

    Ogata, Kiyoyuki

    2006-12-01

    Myelodysplastic syndromes (MDS) are common malignant disorders with a poor prognosis. MDS are a group of highly heterogeneous disorders but show certain universal findings including a high incidence in the elderly population, cytopenia, dysplastic myeloid cells, and frequent transformation to acute myeloid leukemia. Until recently, the vast majority of MDS patients were treated with supportive therapy alone, such as transfusions. Allogeneic stem cell transplantation (SCT) has the potential for cure, although due to the age and comorbidity of MDS patients, the role of allogeneic SCT in MDS has been limited. Recently, research in MDS has shown substantial advances that have deepened our understanding of MDS pathophysiology and changed our approach to MDS patients. This review touches on some recent developments in the diagnosis and pathophysiology of MDS.

  13. Splicing factor gene mutations in the myelodysplastic syndromes: impact on disease phenotype and therapeutic applications.

    Science.gov (United States)

    Pellagatti, Andrea; Boultwood, Jacqueline

    2017-01-01

    Splicing factor gene mutations are the most frequent mutations found in patients with the myeloid malignancy myelodysplastic syndrome (MDS), suggesting that spliceosomal dysfunction plays a major role in disease pathogenesis. The aberrantly spliced target genes and deregulated cellular pathways associated with the commonly mutated splicing factor genes in MDS (SF3B1, SRSF2 and U2AF1) are being identified, illuminating the molecular mechanisms underlying MDS. Emerging data from mouse modeling studies indicate that the presence of splicing factor gene mutations can lead to bone marrow hematopoietic stem/myeloid progenitor cell expansion, impaired hematopoiesis and dysplastic differentiation that are hallmarks of MDS. Importantly, recent evidence suggests that spliceosome inhibitors and splicing modulators may have therapeutic value in the treatment of splicing factor mutant myeloid malignancies.

  14. Nevus sebáceo de Jadassohn: descripción de 261 casos y su asociación con otros tumores

    Directory of Open Access Journals (Sweden)

    Paula Andrea Arango Pérez

    2008-11-01

    Full Text Available El nevus sebáceo de Jadassohn (NSJ es una lesión congénita benigna pero por decenios se la consideró con alto potencial de malignización hacia el carcinoma basocelular (CBC, por lo que se sugería su resección precoz. Series recientes han establecido que muchas de las neoplasias diagnosticadas como malignas eran benignas. Nuestra revisión de 261 casos constituye un aporte al conocimiento del NSJ. Hasta ahora no ha habido series similares en Colombia, y en América Latina las publicaciones no superan los 60 pacientes. MATERIALES Y MÉTODOS: se analizaron 261 casos del archivo de histopatología de la Facultad de Medicina de la Universidad de Antioquia con diagnóstico de NSJ entre 1976 y 2008, incluyendo biopsias y resecciones. RESULTADOS: de los 261 pacientes, 143 eran hombres (54,8% y 118 mujeres (45,2%; la edad promedio fue de 17,4 años; el NSJ estaba presente al nacimiento en el 90,4%. La localización más frecuente fue en el cuero cabelludo (62,5%. Presentaron tumores asociados 28 pacientes: siringocistadenoma papilífero (SCAP 8 casos (3,1%, tumor del infundíbulo folicular (TIF 5 casos (1,9%. Cuatro casos fueron de CBC (1,5% con edad promedio de 40,7 años. Cuatro de 7 tumores diagnosticados previamente como CBC, fueron reclasificados como TIF. DISCUSIÓN: el SCAP fue el tumor más frecuentemente asociado, tal como aparece reportado por otros autores. En esta serie se encontró el TIF con una mayor frecuencia que en la literatura revisada. El CBC fue el único tumor maligno y se presentó solo en adultos. Los resultados de esta serie evidencian un comportamiento benigno del NSJ, por lo que se debiera replantear la necesidad de resección precoz. La revisión histológica del diagnóstico inicial demuestra que lesiones benignas pueden ser confundidas fácilmente con CBC, sobreestimando el potencial maligno de este hamartoma.

  15. Recurrence of Dysplastic Nevi Is Strongly Associated with Extension of the Lesions to the Lateral Margins and into the Deep Margins through the Hair Follicles in the Original Shave Removal Specimens

    Directory of Open Access Journals (Sweden)

    Amin Maghari

    2016-01-01

    Full Text Available Melanocytic nevi, including dysplastic or atypical nevi (DN, can recur or persist following shave removal procedures, and recurrence may resemble melanoma, both clinically and histologically (pseudomelanoma. Recurrence may originate from proliferation of the remaining neoplastic melanocytes following incomplete removal. The present study determines the rate and etiology of this event. A cross-sectional analysis of 110 excision specimens showing histological recurrence was performed, and these specimens were compared to the slides of the original shave specimens showing mildly atypical DN. In the second portion of the study, a retrospective review of 167 cases with biopsy-proven mildly atypical DN which were followed up for at least two years was conducted to determine the rate of recurrence/persistence. When followed up for two years, DN, with positive shave margins, defined by extension or very close extension (≤0.2 mm of the lesions to the lateral margins and into the deep margins through the hair follicles in the shave removal specimens, have a higher probability of recurrence than DN with negative (or clear margins (odds ratio (OR = 158; 95% confidence interval (CI = 36.62–683; P<0.001. The overall rate of histologically confirmed recurrence/persistence was approximately 10%.

  16. Evaluation of Laser Therapy on Nevus of Ota Using Computer-aided Quantitative System Analysis%激光治疗太田痣疗效的计算机辅助定量评价

    Institute of Scientific and Technical Information of China (English)

    齐向东; 马立敏; 钟世镇

    2011-01-01

    目的 探索计算机辅助定量分析系统对激光治疗太田痣疗效的评价.方法 太田痣患者12例,采用安琪儿色素分析系统和具有丰富临床经验的3名整形外科医师目测等两种方法,分别对疗效进行评价,并对评价结果进行对比研究.结果 计算机辅助定量分析系统对太田痣的疗效评价为(54±25.33)%,整形外科医师定性对太田痣的疗效评价为(57.92±25.82)%.计算机辅助定量分析系统能够定量得出治疗效果,并能准确测量变化的面积和颜色变化的百分比.整形外科医师与计算机辅助测量系统的疗效评价具有线性相关(P<0.001).结论 计算机辅助定量评价分析系统可以替代临床医师的评价方法,更具客观性、精确性.灰度和面积具有作为疗效量化指标的价值.%Objective To investigate the treatment effects of laser therapy on nevus of Ora using computer-aided quantitative analysis system. Methods Twelve patients with nevus of Ota were evaluated and compared both by the Angel color analysis system and by the experienced three plastic surgeons double-blindedly. Results The treatment effects analyzed by quantitative system analysis were (54 ± 25. 33 ) % and evaluated by the plastic surgeons were (57. 92 ± 25. 82) %. The quantitative system analysis could accurately calculate the area and the percentage of nevus of Ota. The subjective clinical grades correlated well with the treatment effects obtained by the proposed color analysis system(P <0. 001 ). Conclusions The computer-aided quantitative system analysis could replace clinicians. It provides an objective, accurate, and quantitative way. The two parameters( grey-scale and area) are valuable quantitative indexes for evaluation of effects.

  17. Postoperative nursing of laser with moist collagen dressing in patients with nevus of ota%胶原贴敷料在太田痣激光治疗后的临床应用观察

    Institute of Scientific and Technical Information of China (English)

    钟贵玲; 吴小林; 李志敏; 任英健; 胡瑛; 朱桂芳

    2008-01-01

    目的 探讨胶原贴敷料在太田痣激光治疗后的修复作用.方法 观察组35例太田痣患者激光治疗后局部敷贴胶原贴敷料,1次/d,连续7次.对照组33例激光治疗后让其自然恢复.观察其术后渗出、水肿及痂皮脱落时间.患者满意度.结果与对照组相比,太田痣激光治疗后使用胶原贴敷料进行护理,其轻微损伤的创面在较短时间内得到恢复,不良反应少,患者满意.经统计学分析,t检验P<0.05差异有统计学意义.结论 胶原贴敷料在太田痣激光治疗后应用,可以消肿,减少渗出,对创伤的愈合有强的促进作用,患者满意度高,值得临床推广应用.%Objective To evaluate the rehabilitative effects of the moist collagen dressing on postoperative nursing of laser in patients with nevus of ota.Methods 68 patients with nevus of ota were divided into two groups randomly.After laser treating,a group with 35 patients received daily local appliance the moist collagen dressing for 7 days;but the other group did not.The duration of wound recovery,the incidence of side effects and patients'satisfaction were evaluated.Results The healing of post laser treatment is substantially accelerated,side effects and discomfort is reduced.The statistic analysis showed there was a prominent difference between the two means(T test,P<0.05).ConclusionMoist collagen dressing can be used postoperative nursing of laser in patients of nevus of ota.It is worthwhile for popularization and application.

  18. Application of medial upper arm flap in the treatment of large area of scar and black nevus on face%上臂内侧扩张皮瓣修复面部大面积瘢痕和黑痣

    Institute of Scientific and Technical Information of China (English)

    于燕; 徐红霞; 邹曰坤

    2012-01-01

    Objective To introduce the application of medial upper arm flap in the treatment of large area of scar and black nevus on face. Methods From December 2009 to July 2011, 16 patients with large area of scar and black nevus on face were performed face reconstruction using medial upper arm flap. Of all the cases, 14 patients were diagnosed as scar on face,2 patients were diagnosed as black nevus on face. 13 patients were male,3 patients were female, ranging in age from 18 to 36. A tissue expander was placed in the medial arm region and serially inflated for approximately 3 months. Second,delaying of skin flap was performed. Then.the pedicle skin flap was transferred to the face. The pedicle was divided 3 weeks later, and the flap was used to resurface the facial defect. Results All the flap were safely transferred. The color of the flap was close to the surrounding skin. The dragging deformity by scar were corrected. With 6 to 12 months' follow-up, the appearance were good. Conclusion Medial upper arm flap was a good option for reconstruction of massive facial defects.%目的:介绍上臂内侧扩张皮瓣修复面部瘢痕、黑痣的方法.方法:2009年12月~2011年7月,共16例面部大面积瘢痕或黑痣患者采用上臂内侧皮瓣进行修复,其中面部瘢痕患者14例,面部黑痣2例,男性13例,女性3例,年龄18 ~ 36岁.手术分三期进行,一期在面部病变同侧上臂植入扩张器,持续注水约3个月,二期行皮瓣延迟术,三期将上臂内侧皮瓣带蒂转移,病变切除.四期断蒂.结果:16例患者皮瓣均成活良好,皮瓣颜色接近面部周围皮肤,局部瘢痕牵拉畸形者亦改善明显,随访6~12个月,修复效果满意.结论:上臂内侧皮瓣为修复面部大面积皮肤病变的良好选择.

  19. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai

    2007-12-01

    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  20. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  1. 中西医结合治疗骨髓增生异常综合征研究%Study on Treatment of Myelo-dysplastic Syndrome by Integrative Traditional Chinese and Western Medicine

    Institute of Scientific and Technical Information of China (English)

    麻柔; 邓成珊; 陈信义

    2003-01-01

    @@ 骨髓增生异常综合征(MDS)是一类克隆性病变综合征.法、美、英协作组(FAB)1982年将MDS分类为难治性贫血(RA)、环形铁粒幼细胞性难治性贫血(RARS)、难治性贫血伴有原始细胞增多(RAEB)、转变中的RAEB(RAEB-t)、慢性粒-单细胞白血病(CMML).WHO 2000年MDS新分类为红系RA、多系RA,红系RARS、多系RARS,RAEBⅠ、RAEBⅡ,5q-综合征.MDS又可分为原发性MDS和继发性MDS,继发性MDS有化疗、放疗、细胞毒(BMT)或接触毒物史,染色体改变多为多个染色体改变;原发性MDS多为单个染色体改变.MDS染色体改变以缺失多见,由于病因、病机的异质性,治疗方法也不同,疗效均不满意.

  2. Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.

    Science.gov (United States)

    Rudnik-Schöneborn, S; Zerres, K; Graul-Neumann, L; Wiegand, S; Mellerowicz, H; Hehr, U

    2011-09-01

    Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation syndrome with the main features cardiac defects, postaxial hexadactyly, mesomelic shortening of the limbs, short ribs, dysplastic nails and teeth, oral frenula and various other abnormalities while mental function is normal. We describe 2 adult EvC patients with the cardinal skeletal features of mesomelic short stature and severe, progressive genu valgum deformity, resulting from loss of function mutations in the EVC genes. While the genu valgum was the predominating and disabling feature in patient 1, patient 2 showed acroosteolyses in the distal phalanges and a symmetrical synostosis of metacarpals in his hands. Moreover, patient 2 developed synostoses in the additional fingers in adolescence which had not been present at the age of 12 years, suggesting a further progression of skeletal disease. Joint fusion of phalanges so far has not been reported in EvC syndrome. Our data further expand the phenotypic spectrum of EvC related skeletal malformations and contribute important new information on the clinical course of EvC syndrome with increasing age.

  3. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  4. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  5. Gorlin syndrome.

    Science.gov (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  6. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  7. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  8. Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

    Science.gov (United States)

    Aziz, Abdul; Raza, Syed I; Ali, Salman; Ahmad, Wasim

    2016-01-01

    Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities. It is caused by biallelic mutations in the EVC or EVC2 gene, separated by 2.6 kb of genomic sequence on chromosome 4p16. In the present study, we have investigated two consanguineous families of Pakistani origin, segregating EVC in autosomal recessive manner. Linkage in the families was established to chromosome 4p16. Subsequently, sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families. This further expands the mutations in the EVC or EVC2 genes resulting in the EVC syndrome.

  9. Caso familiar de nevo branco esponjoso oral: uma rara condição hereditária Familial case of oral white sponge nevus: a rare hereditary condition

    Directory of Open Access Journals (Sweden)

    Paulo Ricardo Saquete Martins Filho

    2011-08-01

    Full Text Available O nevo branco esponjoso é uma desordem autossômica dominante, caracterizada por placas brancas difusas, rugosas, que afetam principalmente a mucosa bucal. A condição tem um alto grau de penetrância e expressividade variada, embora os relatos familiais sejam incomuns. Este artigo relata um caso familiar de nevo branco esponjoso em que duas irmãs são afetadas por esta condiçãoWhite sponge nevus (WSN is an autosomal dominant skin disorder characterized by white, corrugated and diffuse plaques mainly affecting the oral mucosa. The condition has a high penetrance and variable expressivity, but familial reports are uncommon. This report presents a familial case of WSN in which two sisters are affected by the disorder

  10. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  11. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causi...

  12. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  13. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  14. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  15. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  16. LEOPARD syndrome

    Science.gov (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  17. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  18. Poland syndrome

    OpenAIRE

    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  19. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  20. Evaluation of small ({<=}2 cm) dysplastic nodules and well-differentiated hepatocellular carcinomas with ferucarbotran-enhanced MRI in a 1.0-T MRI unit: Utility of T2*-weighted gradient echo sequences with an intermediate-echo time

    Energy Technology Data Exchange (ETDEWEB)

    Tonan, Tatsuyuki [Department of Radiology, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011 (Japan); Fujimoto, Kiminori [Department of Radiology, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011 (Japan)], E-mail: kimichan@med.kurume-u.ac.jp; Azuma, Sanae [Department of Radiology, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011 (Japan); Ono, Noriyuki [Department of Internal Medicine, Chikugo City Hospital, Chikugo (Japan); Matsushita, Sunao [Department of Radiology, Chikugo City Hospital, 917-1 Izumi, Chikugo 833-0041 (Japan); Kojiro, Masamichi [Department of Pathology, Kurume University School of Medicine, Kurume (Japan); Hayabuchi, Naofumi [Department of Radiology, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011 (Japan)

    2007-10-15

    Purpose: To evaluate the detectability and signal intensities of small ({<=}2 cm) dysplastic nodules (DNs) and well-differentiated hepatocellular carcinomas (w-HCCs) by T2*-weighted gradient echo (GRE) sequences using an intermediate echo-time (TE) with ferucarbotran in a 1.0-T magnetic resonance imaging (MRI) unit. Materials and methods: Pathologically confirmed DNs (n = 13) and w-HCCs (n = 31) with a median largest dimension of 1.1 cm were scanned using ferucarbotran-enhanced MRI. Conventional T2*-weighted GRE sequences (conventional-T2*-GRE: repetition time, 280 ms; echo time, 14 ms; flip angle, 60 deg.) and specific T2*-weighted GRE sequences using an intermediate-TE (specific-T2*-GRE: repetition time, 140 ms; echo time, 8 ms; flip angle, 30 deg.) were obtained before and after ferucarbotran administration. Two independent observers scored all nodules for visibility and assigned confidence level scores to their observations. To assess the effect of ferucarbotran, the tumor-liver signal contrast-to-noise ratio (tumor-liver-CNR) was also calculated for detected nodules by the same two observers with consensus. Results: There was good interobserver agreement regarding the presence of nodules for both sequence types. Qualitative and quantitative analyses indicated that specific-T2*GRE sequences were superior to conventional-T2*-GRE sequences for detecting DNs and w-HCCs with hypointense signals. The tumor-liver-CNR of DNs was significantly different between specific-T2*-GRE sequences and conventional-T2*-GRE sequences (Mann-Whitney test, P < 0.001). Both qualitative and quantitative analyses indicated that conventional-T2*-GRE sequences were superior to specific-T2*-GRE sequences for detecting w-HCCs with heterogeneous and hyperintense signals. Conclusion: Specific-T2*-GRE sequences with ferucarbotran are useful for detecting DNs and w-HCCs that produce hypointense signals on a 1.0-T MRI unit.

  1. Dermoscopy for the pediatric dermatologist, part ii: dermoscopy of genetic syndromes with cutaneous manifestations and pediatric vascular lesions.

    Science.gov (United States)

    Haliasos, Elena C; Kerner, Miryam; Jaimes, Natalia; Zalaudek, Iris; Malvehy, Josep; Lanschuetzer, Christoph M; Hinter, Helmut; Hofmann-Wellenhof, Rainer; Braun, Ralph P; Marghoob, Ashfaq A

    2013-01-01

    Genetic syndromes including basal cell nevus syndrome (BSNS), xeroderma pigmentosum (XP), and epidermodysplasia verruciformis (EV) predispose the individual to skin cancer. Basal cell carcinomas (BCCs) often develop in patients with BCNS and XP. One of the aims of surveillance examination in these patients is to detect BCC while the tumors are still small and easy to manage. Dermoscopy, by allowing the visualization of arborizing vessels, ovoid nests, nonaggregated blue-gray globules, and spoke-wheel and leaf-like structures, can facilitate in the early detection of BCC. Patients with XP are also at risk for developing squamous cell carcinoma (SCC). Dermoscopy can assist in the early detection of these cancers by allowing the observer to visualize focal glomerular vessels, which is a common feature seen in SCC. This feature can also assist in detecting SCC developing in other syndromes such as EV and epidermolysis bullosa (EB). In addition to helping in the detection of BCC and SCC, dermoscopy can also help detect melanoma in individuals with XP and evaluate nevi developing in those with EB. This review will discuss how dermoscopy can be used in the management of patients with BSNS, XP, EV, and EB and will discuss the dermoscopic findings of vascular lesions, including pyogenic granuloma, hemangioma, port-wine stain, and lymphangioma circumscriptum.

  2. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

    Science.gov (United States)

    Döcker, Dennis; Schubach, Max; Menzel, Moritz; Spaich, Christiane; Gabriel, Heinz-Dieter; Zenker, Martin; Bartholdi, Deborah; Biskup, Saskia

    2015-01-01

    Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes. We performed trio-exome sequencing in a 6-year-old boy and his healthy parents. Clinical features were macrocephaly, cutis marmorata, angiomata, asymmetric overgrowth, developmental delay, discrete midline facial nevus flammeus, toe syndactyly and postaxial polydactyly—thus, clearly an MCAP phenotype. Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p.(Gln510Arg)), which has so far been associated with Noonan, as well as LEOPARD syndrome. Whole-exome sequencing (>100 × coverage) did not reveal any alteration in the known megalencephaly genes. However, ultra-deep sequencing results from saliva (>1000 × coverage) revealed a 22% mosaic variant in PIK3CA (c.2740G>A; p.(Gly914Arg)). To our knowledge, this report is the first description of a PTPN11 germline variant in an MCAP patient. Data from experimental studies show a complex interaction of SHP2 (gene product of PTPN11) and the PI3K-AKT pathway. We hypothesize that certain PTPN11 germline variants might drive toward additional second-hit alterations. PMID:24939587

  3. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

    Science.gov (United States)

    Döcker, Dennis; Schubach, Max; Menzel, Moritz; Spaich, Christiane; Gabriel, Heinz-Dieter; Zenker, Martin; Bartholdi, Deborah; Biskup, Saskia

    2015-03-01

    Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes. We performed trio-exome sequencing in a 6-year-old boy and his healthy parents. Clinical features were macrocephaly, cutis marmorata, angiomata, asymmetric overgrowth, developmental delay, discrete midline facial nevus flammeus, toe syndactyly and postaxial polydactyly--thus, clearly an MCAP phenotype. Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p.(Gln510Arg)), which has so far been associated with Noonan, as well as LEOPARD syndrome. Whole-exome sequencing (>100 × coverage) did not reveal any alteration in the known megalencephaly genes. However, ultra-deep sequencing results from saliva (>1000 × coverage) revealed a 22% mosaic variant in PIK3CA (c.2740G>A; p.(Gly914Arg)). To our knowledge, this report is the first description of a PTPN11 germline variant in an MCAP patient. Data from experimental studies show a complex interaction of SHP2 (gene product of PTPN11) and the PI3K-AKT pathway. We hypothesize that certain PTPN11 germline variants might drive toward additional second-hit alterations.

  4. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra

    2006-09-01

    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  5. Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.

    Science.gov (United States)

    Zhang, Zeng; Bao, Kun; He, Jin-Wei; Fu, Wen-Zhen; Zhang, Chang-Qing; Zhang, Zhen-Lin

    2012-12-15

    Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. It is caused by biallelic mutations in the EVC or EVC2 gene. Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. Identification of a novel genotype in EvC will provide clues to the phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling.

  6. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  7. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  8. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  9. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  10. Jerusalem syndrome.

    Science.gov (United States)

    Bar-el, Y; Durst, R; Katz, G; Zislin, J; Strauss, Z; Knobler, H Y

    2000-01-01

    Jerusalem's psychiatrists expect to encounter, as the millennium approaches, an ever-increasing number of tourists who, upon arriving in Jerusalem, may suffer psychotic decompensation. To describe the Jerusalem syndrome as a unique acute psychotic state. This analysis is based on accumulated clinical experience and phenomenological data consisting of cultural and religious perspectives. Three main categories of the syndrome are identified and described, with special focus on the category pertaining to spontaneous manifestations, unconfounded by previous psychotic history or psychopathology. The discrete form of the Jerusalem syndrome is related to religious excitement induced by proximity to the holy places of Jerusalem, and is indicated by seven characteristic sequential stages.

  11. Genetics Home Reference: epidermal nevus

    Science.gov (United States)

    ... thicker and darker and develop a wart-like (verrucous) appearance. Often, keratinocytic epidermal nevi follow a pattern ... are also known as linear epidermal nevi or verrucous epidermal nevi, based on characteristics of their appearance. ...

  12. [Autoinflammatory syndromes/fever syndromes].

    Science.gov (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  13. Enlarged vestibular aqueducts and other inner-ear abnormalities in patients with Down syndrome.

    Science.gov (United States)

    Clark, C M; Patel, H H; Kanekar, S G; Isildak, H

    2017-04-01

    Histopathological anomalies of inner-ear structures in individuals with Down syndrome have been well documented; however, few studies have examined the radiological features. A retrospective study was conducted of temporal bone computed tomography images in 38 individuals (75 ears) with Down syndrome to evaluate the prevalence of inner-ear abnormalities and assess vestibular aqueduct widths. Inner-ear anomalies were identified in 20 of the 38 individuals (52.6 per cent). Seven of the 75 temporal bones (9.3 per cent) were found to have higher than previously reported. A dilated internal auditory canal and vestibule were more common among the present study group, while prior studies have demonstrated internal auditory canal stenosis and decreased vestibule size. Down syndrome patients exhibit a high prevalence of dysplastic inner-ear features that confer substantial risk of sensorineural hearing loss. Computed tomography is a useful screening aid to detect inner-ear abnormalities, particularly enlarged vestibular aqueducts, which cause preventable sensorineural hearing loss in this population.

  14. Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism.

    Science.gov (United States)

    Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández

    2014-09-01

    The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with facial dysmorphism. It was first described in 1978 in patients with mental retardation and crisis of intermittent hyperventilation. The genetic cause is haploinsufficiency of the TCF4 (transcription factor 4) gene that affects the neurodevelopment in both sexes; the majority of patients have spontaneous molecular defects by point mutations or deletions in chromosome 18 at the region 18q21. The syndrome is characterized by neurological abnormalities that affect the motor coordination and balance, in patients with mental and developmental delays. The phenotype includes a peculiar face by specific craniofacial anomalies: prominent square forehead, deep-set eyes with ocular hypertelorism; prominent large nose beaked and broad flat nasal bridge; mouth wide and large, thick fleshy lips, tented bow-shaped upper lip and everted lower lip; cup-shaped ears with dysplastic broad overfolded helix. We review the literature and the photographs of 44 published patients from 2007 to 2012, to resume the principal features of craniofacial anomalies, attempting to delineate the syndrome phenotype and score the specific dysmorphism than help to achieve the early clinical diagnosis.

  15. Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

    Science.gov (United States)

    Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández

    2014-01-01

    The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with facial dysmorphism. It was first described in 1978 in patients with mental retardation and crisis of intermittent hyperventilation. The genetic cause is haploinsufficiency of the TCF4 (transcription factor 4) gene that affects the neurodevelopment in both sexes; the majority of patients have spontaneous molecular defects by point mutations or deletions in chromosome 18 at the region 18q21. The syndrome is characterized by neurological abnormalities that affect the motor coordination and balance, in patients with mental and developmental delays. The phenotype includes a peculiar face by specific craniofacial anomalies: prominent square forehead, deep-set eyes with ocular hypertelorism; prominent large nose beaked and broad flat nasal bridge; mouth wide and large, thick fleshy lips, tented bow-shaped upper lip and everted lower lip; cup-shaped ears with dysplastic broad overfolded helix. We review the literature and the photographs of 44 published patients from 2007 to 2012, to resume the principal features of craniofacial anomalies, attempting to delineate the syndrome phenotype and score the specific dysmorphism than help to achieve the early clinical diagnosis. PMID:27625870

  16. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  17. Reye Syndrome

    Science.gov (United States)

    ... A Life After Diagnosis Support for Chronic Illness Corporate Partnerships Interview with Kristen Hanks Liver Lowdown July ... poor blood clotting and bleeding caused by liver failure. What are the symptoms of Reye syndrome? Reye ...

  18. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  19. Premenstrual syndrome

    National Research Council Canada - National Science Library

    Kwan, Irene; Onwude, Joseph Loze

    2015-01-01

    A woman has premenstrual syndrome (PMS) if she complains of recurrent psychological and/or physical symptoms occurring during the luteal phase of the menstrual cycle, and often resolving by the end of menstruation...

  20. Zellweger Syndrome

    Science.gov (United States)

    ... done? The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  1. Autoinflammatory syndromes.

    Science.gov (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  2. Piriformis Syndrome

    Science.gov (United States)

    ... of sitting for a long period of time, climbing stairs, walking, or running. × Definition Piriformis syndrome is a ... of sitting for a long period of time, climbing stairs, walking, or running. View Full Definition Treatment Generally, ...

  3. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  4. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  5. Neurocutaneous Syndromes

    Science.gov (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  6. Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  7. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne;

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  8. Beals Syndrome

    Science.gov (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  9. Isaac's Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  10. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  11. Dressler's Syndrome

    Science.gov (United States)

    ... syndrome can cause more-serious complications, including: Cardiac tamponade. Inflammation of the pericardium can cause fluids to ... including: Draining excess fluids. If you develop cardiac tamponade, your doctor will likely recommend a procedure (pericardiocentesis) ...

  12. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  13. Down Syndrome

    Science.gov (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  14. Metabolic syndrome

    Science.gov (United States)

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  15. Eagle's Syndrome

    OpenAIRE

    Pinheiro, Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  16. SAPHO syndrome.

    Science.gov (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  17. Carpenter syndrome.

    Science.gov (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol

    2009-01-01

    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  18. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  19. Down Syndrome (For Kids)

    Science.gov (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  20. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...