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Sample records for bleb nevus syndrome

  1. 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.

  2. Unilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India

    Science.gov (United States)

    Sancheti, Karan; Podder, Indrashis; Das, Anupam; Choudhury, Sourav; Chandra, Somodyuti; Gharami, Ramesh Chandra

    2015-01-01

    Blue rubber bleb nevus syndrome (BRBNS) also called Bean's syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract. We report here, a 21-year-old woman patient, who presented with unilateral, blaschkoid distribution of cutaneous venous malformations along with blue rubber bleb nevus and recurrent episodes of hematochezia due to vascular lesions in the sigmoid colon; likely to be a case of BRBNS. The unusual unilateral, blaschkoid distribution of BRBNS prompted this present report. PMID:26677281

  3. Unilateral, linear blue rubber bleb nevus syndrome (Bean′s syndrome: An unfamiliar presentation: First case from India

    Directory of Open Access Journals (Sweden)

    Karan Sancheti

    2015-01-01

    Full Text Available Blue rubber bleb nevus syndrome (BRBNS also called Bean′s syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract. We report here, a 21-year-old woman patient, who presented with unilateral, blaschkoid distribution of cutaneous venous malformations along with blue rubber bleb nevus and recurrent episodes of hematochezia due to vascular lesions in the sigmoid colon; likely to be a case of BRBNS. The unusual unilateral, blaschkoid distribution of BRBNS prompted this present report.

  4. 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.

  5. Becker's Nevus Syndrome

    OpenAIRE

    Dasegowda, Sathyanarayana B; GB Basavaraj; KC, Nischal; Swaroop MR,; NP Umashankar; Suchetha S Swamy

    2014-01-01

    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 stone...

  6. Epidermal nevus syndromes.

    Science.gov (United States)

    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.

  7. Epidermal nevus syndrome.

    Science.gov (United States)

    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.

  8. Becker′s nevus syndrome

    Directory of Open Access Journals (Sweden)

    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.

  9. Ophthalmic Manifestations of Linear Nevus Sebaceous/Organoid Nevus Syndrome

    International Nuclear Information System (INIS)

    Linear Nevus Sebaceous Syndrome (LNSS) is a rare sporadic oculoneurocutaneous disorder, also classified as Organoid Nevus Syndrome. It consists of a triad of midline facial linear nevus sebaceous, central nervous system and ocular abnormalities. To the best of authors' knowledge ophthalmic features of LNSS have never been reported in Pakistani population. We report two cases of LNSS, associated with multiple cutaneous nevus sebaceous lesions, complex ocular choristomas and rare bilateral presentation in one patient. Ocular choristomas included limbal dermoids, dermolipomas at superior fornices and chroidal choristoma. Ocular surface was successfully reconstructed by excision of limbal dermoids, partial keratectomy and amniotic membrane transp. (author)

  10. Radiologic study of basal cell nevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    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.

  11. 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...

  12. 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.

  13. 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.

  14. Inheritance of nevus number and size in melanoma and dysplastic nevus syndrome kindreds.

    Science.gov (United States)

    Goldgar, D E; Cannon-Albright, L A; Meyer, L J; Piepkorn, M W; Zone, J J; Skolnick, M H

    1991-12-01

    Previous studies of the genetics of melanoma have focused on the dysplastic nevus syndrome (DNS). The variability in clinical and histopathological expression of affected individuals, however, has made definition and diagnosis of the syndrome difficult and subjective. Independent of the DNS, case-control studies have demonstrated the total number of nevi to be a significant risk factor for melanoma. In this article, we report results of genetic analyses of two quantitative nevus phenotypes that can be measured objectively in all subjects: the total number of nevi on an individual (TNN) and total nevus density (TND), a derived phenotype which incorporates both number and size of nevi. Ten kindreds ascertained for multiple cases of DNS-melanoma (multiplex ascertainment) and 16 kindreds and 19 solitary cases ascertained from a sequential list of melanoma cases without regard for family history (simplex ascertainment) were studied. Both phenotypes exhibited increased levels in relatives of probands compared with those in spouse controls. While neither TNN nor TND exhibited evidence for a major factor in the simplex pedigrees, a major factor was strongly indicated in the multiplex kindreds for TND. When both phenotypes were examined in more detail in the multiplex kindreds, the phenotype incorporating nevus size, TND, fit a mendelian pattern of inheritance better than the TNN. Significant residual familial correlations were found for both phenotypes. Parameter estimates from the best fitting genetic model indicated that a major gene may be responsible for 55% of the phenotypic variability of TND in the multiplex kindreds. PMID:1770551

  15. [Anesthetic Management of a Pediatric Case of Blue Rubber Bleb Nevi Syndrome Combined with Small-intestinal Intussusception].

    Science.gov (United States)

    Ueno, Takeshi; Komasawa, Nobuyasu; Matsunami, Sayuri; Majima, Nozomi; Kusaka, Yusuke; Minami, Toshiaki

    2016-04-01

    We report the anesthetic management of a pediatric case of blue rubber bleb nevi syndrome combined with small-intestinal intussusception. A 2-year-old girl was transferred to our hospital for small-intestinal intussusception. Emergent ablation of the upper gastrointestinal tract nevus under general anesthesia was planned. Given the presence of several nevi in the oral and pharyngeal space, we utilized the McGRATH MAC (McGRATH; Aircraft Medical Ltd, United Kingdom) laryngoscope for gentle and stress-free tracheal intubation. The venous line was kept patent preoperatively, and rapid-sequence intubation was performed with the McGRATH (size 2 pediatric blade). A 4.5-mm tracheal tube was inserted uneventfully under direct visualization. The trachea was observed and the tube maintained in a proper position with a bronchofiberscope. During the procedure, cuff volume was regulated to avoid excessive increase by upper gastrointestinal endoscope insertion. The girl was extubated in the operating room and showed no postoperative complications such as hemorrhage or hoarseness. PMID:27188112

  16. 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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  19. The value of double balloon enteroscopy in diagnosing blue rubber bleb naevus syndrome: a case report.

    LENUS (Irish Health Repository)

    O'Kelly, Fardod

    2010-01-01

    Blue rubber bleb naevus syndrome is a rare vascular disorder associated with multiple gastrointestinal haemangiomas that have the potential for life-threatening haemorrhage. These may be difficult to diagnose, and have classically been described using computed tomographic studies and\\/or mesenteric angiography. Resected surgical specimens of these lesions, especially in the small bowel, have often been extensive and poorly localized. The recent advent and progressive development of double balloon enteroscopy has allowed the direct visualization and marking of these enteric lesions and serves as a valuable adjunct not only in diagnosis but also planning prior to surgery to allow accurate estimate of the extent of resection.

  20. 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.

  1. 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

    2015-01-01

    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

  2. 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

  3. 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.

  4. 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.)

  5. [Increased incidence of multiple melanoma in sporadic and familial dysplastic nevus cell syndrome].

    Science.gov (United States)

    Sigg, C; Pelloni, F; Schnyder, U W

    1989-09-01

    In 280 melanoma patients all data concerning familial and personal history, histology, and therapy were verified. All patients underwent total-body skin examination to check for the presence of dysplastic nevus syndrome (DNS). In 257/280 patients (91.8%) solitary melanomas were found, while in 23/280 patients (8.2%) multiple melanomas occurring simultaneously or consecutively were ascertained. Surprisingly, among the 12/280 patients (4.2%) with familial variants of melanoma, multiple melanomas were not found in a increased frequency. In patients with DNS (regardless of whether sporadic or familial) the frequency of multiple melanomas is higher: in patients with solitary melanomas DNS was found in 27/257 (10.5%), while in patients with multiple melanomas DNS was diagnosed in 11/23 (47.8%) (P less than 0.0005). In both groups (solitary and multiple melanomas) the mean age of patients with DNS was around 10 years lower. The frequency of additional primary malignancies in patients with cutaneous melanomas was 8.6%, and did not vary according as whether patients had solitary or multiple melanomas with or without DNS. PMID:2807914

  6. Hypophosphatemic rickets associated with giant hairy nevus

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    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.

  7. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus

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    Saroj, Gyanendra; Gangwar, Anshul

    2016-01-01

    ABSTRACT Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Many people with SWS probably never know they have it. Hypothyroidism is a condition that arises from inadequate release of thyroid-stimulating hormone to stimulate an otherwise normal thyroid gland. This condition is often associated with a deficient secretion of other pituitary hormone, and growth hormone deficiency occurs with an increased prevalence in SWS, presumably secondary to involvement of the hypothalamic-pituitary axis. Diagnosis is made by the presence of a facial PWS and evidence of leptomeningeal angioma either by skull X-ray or computed tomography scan that shows intracranial calcifications. Presently, there is no specific treatment for SWS, and the management of the clinical manifestations and complications is still far from adequate. Here, we report the case of hypothyroidism associated with SWS with oral and facial manifestations in an 11-year-old boy. How to cite this article: Saroj G, Gangwar A, Dhillon JK. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. Int J Clin Pediatr Dent 2016;9(1): 82-85. PMID:27274162

  8. Axillary basal cell carcinoma in patients with Goltz-Gorlin syndrome: report of basal cell carcinoma in both axilla of a woman with basal cell nevus syndrome and literature review

    OpenAIRE

    Cohen, Philip R.

    2014-01-01

    Background: Basal cell carcinoma of the axilla, an area that is not usually exposed to the sun, is rare. Individuals with basal cell nevus syndrome, a disorder associated with a mutation in the patch 1 (PTCH1) gene, develop numerous basal cell carcinomas.Purpose: To describe a woman with basal cell nevus syndrome who developed a pigmented basal cell carcinoma in each of her axilla and to review the features of axillary basal cell carcinoma patients with Goltz-Gorlin syndrome.Methods: Pubmed w...

  9. Nevus Removal

    Science.gov (United States)

    ... can be fundamental to improving a patient’s overall psychosocial state. Other reasons to remove a nevus may ... This is not commonly done and presents many risks and challenges. Can’t they ... on all these same factors again. Different patients are more prone or less ...

  10. 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

  11. 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.

  12. The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.

    Science.gov (United States)

    Petrou, Petros; Makrygiannis, Apostolos K; Chalepakis, Georges

    2008-01-01

    Fras1 and the structurally related proteins Frem1, Frem2, and Frem3, comprise a novel family of extracellular matrix proteins, which localize in a similar fashion underneath the lamina densa of epithelial basement membranes. They are involved in the structural adhesion of the skin epithelium to its underlying mesenchyme. Deficiency in the individual murine Fras1/Frem genes gives rise to the bleb phenotype, which is equivalent to the human hereditary disorder Fraser syndrome, characterized by cryptophthalmos (hidden eyes), embryonic skin blistering, renal agenesis, and syndactyly. Recent studies revealed a functional cooperation between the Fras1/Frem gene products, in which Fras1, Frem1 and Frem2 are simultaneously stabilized at the lowermost region of the basement membrane by forming a macromolecular ternary complex. Loss of any of these proteins results in the collapse of the protein assembly, thus providing a molecular explanation for the highly similar phenotypic defects displayed by the respective mutant mice. Here, we summarize the current knowledge regarding the structure, function, and interplay between the proteins of the Fras1/Frem family and further propose a possible scenario for the evolution of the corresponding genes.

  13. Nevus Outreach, Inc.

    Science.gov (United States)

    ... Congenital Melanocytic Nevi Welcome Kent Blount Welcome Science Journalist Pat McAdams Four Nevus Families Reunited Donor Challenge ... Congenital Melanocytic Nevi Welcome Kent Blount Welcome Science Journalist Pat McAdams Four Nevus Families Reunited Donor Challenge ...

  14. Sister chromatid exchanges, hyperdiploidy and chromosomal rearrangements studied in cells from melanoma-prone individuals belonging to families with the dysplastic nevus syndrome.

    Science.gov (United States)

    Jaspers, N G; Roza-de Jongh, E J; Donselaar, I G; Van Velzen-Tillemans, J T; van Hemel, J O; Rümke, P; van der Kamp, A W

    1987-01-01

    Cytogenetic investigations were performed on 25 individuals belonging to six melanoma-prone families with multiple melanocytic lesions (the dysplastic nevus syndrome, DNS). Patients having DNS with or without a history of melanoma were compared with clinically normal relatives and unrelated normal controls. The results indicate normal frequencies of hyperdiploidy and spontaneous sister chromatid exchanges in the fibroblasts of all individuals studied. Karyotypic analyses were carried out on the members of one family. The patients with DNS had a normal constitutional karyotype. In lymphocytes or fibroblasts from five patients, however, increased frequencies of cells with random chromosomal rearrangements were observed. These abnormalities, mainly translocations and inversions, were not found in two of the patients' spouses and in six clinically normal relatives. In the fibroblast cultures considerable clonal selection of cytogenetically abnormal cells occurred. PMID:3791172

  15. Bleb Nucleation through Membrane Peeling

    CERN Document Server

    Alert, Ricard

    2016-01-01

    We study the nucleation of blebs, i.e., protrusions arising from a local detachment of the membrane from the cortex of a cell. Based on a simple model of elastic linkers with force-dependent kinetics, we show that bleb nucleation is governed by membrane peeling. By this mechanism, the growth or shrinkage of a detached membrane patch is completely determined by the linker kinetics, regardless of the energetic cost of the detachment. We predict the critical nucleation radius for membrane peeling and the corresponding effective energy barrier. These may be typically smaller than those predicted by classical nucleation theory, implying a much faster nucleation. We also perform simulations of a continuum stochastic model of membrane-cortex adhesion to obtain the statistics of bleb nucleation times as a function of the stress on the membrane. The determinant role of membrane peeling changes our understanding of bleb nucleation and opens new directions in the study of blebs.

  16. 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.

  17. Three mechanical models for blebbing and multi-blebbing

    KAUST Repository

    Woolley, T. E.

    2014-06-17

    Membrane protrusions known as blebs play important roles in many cellular phenomena. Here we present three mathematical models of the bleb formation, which use biological insights to produce phenotypically accurate pressure-driven expansions. First, we introduce a recently suggested solid mechanics framework that is able to create blebs through stretching the membrane. This framework is then extended to include reference state reconfigurations, which models membrane growth. Finally, the stretching and reconfiguring mechanical models are compared with a much simpler geometrically constrained solution. This allows us to demonstrate that simpler systems are able to capture much of the biological complexity despite more restrictive assumptions. Moreover, the simplicity of the spherical model allows us to consider multiple blebs in a tractable framework. © 2014 The authors 2014. Published by Oxford University Press on behalf of the Institute of Mathematics and its Applications. All rights reserved.

  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. Nevomelanocytic nevus with leukotrichia

    OpenAIRE

    Kaur C; Thami G; Kaur S

    2003-01-01

    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.

  20. 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.

  1. 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.

  2. 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.

  3. Giant congenital melanocytic nevus in a bulgarian newborn.

    Science.gov (United States)

    Chokoeva, A A; Fioranelli, M; Roccia, M G; Lotti, T; Wollina, U; Tchernev, G

    2016-01-01

    Giant congenital melanocytic nevus (GCMN) is a rare disorder affecting 1 in 200,000–500,000 live births. Central nervous system defects such as spina bifida, meningocele, Dandy Walker malformation may accompany it and thus cause significant morbidity. Despite the related risk for malignant transformation, GCMNs may be associated with neurocutaneous melanosis, a rare syndrome in which a giant CMN or multiple smaller CMNs are accompanied by melanocytic deposition in the brain and the spinal cord. We present a case of a 5-day-old newborn with giant congenital melanocytic nevus on his back, as we discuss the diagnostic and treatment approach. PMID:27373137

  4. 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.

  5. 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

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. Evaluation of filtering blebs using the 'Wuerzburg bleb classification score' compared to clinical findings

    OpenAIRE

    Furrer, Sandra; Menke, Marcel N; Funk, Jens; Töteberg-Harms, Marc

    2012-01-01

    To determine the agreement between intraocular pressure and the 'Wuerzburg bleb classification score', as well as between single items of the score and intraocular pressure. Interobserver variability was analyzed.

  12. Computer simulation of cytoskeleton-induced blebbing in lipid membranes

    DEFF Research Database (Denmark)

    Spangler, E. J.; Harvey, C. W.; Revalee, J. D.;

    2011-01-01

    Blebs are balloon-shaped membrane protrusions that form during many physiological processes. Using computer simulation of a particle-based model for self-assembled lipid bilayers coupled to an elastic meshwork, we investigated the phase behavior and kinetics of blebbing. We found that blebs form ...

  13. 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.

  14. Computer Simulation of Cytoskeleton-Induced Blebbing in Lipid Membranes

    CERN Document Server

    Spangler, Eric J; Revalee, Joel D; Kumar, P B Sunil; Laradji, Mohamed

    2011-01-01

    Blebs are balloon-shaped membrane protrusions that form during many physiological processes. Using computer simulation of a particle-based model for self-assembled lipid bilayers coupled to an elastic meshwork, we investigated the phase behavior and kinetics of blebbing. We found that blebs form for large values of the ratio between the areas of the bilayer and the cytoskeleton. We also found that blebbing can be induced when the cytoskeleton is subject to a localized ablation or a uniform compression. The results obtained are qualitatively in agreement with the experimental evidence and the model opens up the possibility to study the kinetics of bleb formation in detail.

  15. Bleb Point: Mimicker of Pneumothorax in Bullous Lung Disease

    Directory of Open Access Journals (Sweden)

    Gelabert, Christopher

    2015-05-01

    Full Text Available In patients presenting with severe dyspnea, several diagnostic challenges arise in distinguishing the diagnosis of pneumothorax versus several other pulmonary etiologies like bullous lung disease, pneumonia, interstitial lung disease, and acute respiratory distress syndrome. Distinguishing between large pulmonary bullae and pneumothorax is of the utmost importance, as the acute management is very different. While multiple imaging modalities are available, plain radiographs may be inadequate to make the diagnosis and other advanced imaging may be difficult to obtain. Ultrasound has a very high specificity for pneumothorax. We present a case where a large pulmonary bleb mimics the lung point and therefore inaccurately suggests pneumothorax. [West J Emerg Med. 2015;16(3:447–449.

  16. Complications and Management of the Filtration Bleb

    Institute of Scientific and Technical Information of China (English)

    Clement; W; N; Chan

    1992-01-01

    Filtration surgery is the commonest operation performed for closed angle or open angle glaucoma when medical treatment or laser trabeculoplasty has failed to control the intraocular pressure. It is characterized by the formation of an artificial drainage fistula between the anterior chamber and subconjunctival space. The successful operation is evidenced by the appearance of a subconjunctival filtration bleb which in turn depends on the patency of this pathway. Despite numerous modification, the procedu...

  17. Familial medial telangiectatic nevus: variant of nevus flammeus--port-wine stain.

    Science.gov (United States)

    Pasyk, K A; Wlodarczyk, S R; Jakobczak, M M; Kurek, M; Aughton, D J

    1993-05-01

    Six families in which a few members, in three generations, were affected with medial telangiectatic nevus (salmon patch, stork bite, angel's kiss) on the forehead, glabella, upper eyelids, upper lip, nose, and nuchal and occipital areas are presented. This is a mild variant of lateral telangiectatic nevus (nevus flammeus, port-wine stain) that disappears in about 50 percent of patients during the first years of life. In one family, lateral telangiectatic nevus (nevus flammeus, port-wine stain) and superficial (strawberry) hemangioma coexisted with medial telangiectatic nevus. This paper discusses the familial incidence of medial telangiectatic nevus and a new modality of treatment. Moreover, the paper presents a classification of vascular malformations and proposes a new terminology. PMID:8479968

  18. GIANT MELANOCYTIC NEVUS IN GARMENT

    Directory of Open Access Journals (Sweden)

    González-Coquel Suanny del Carmen

    2015-01-01

    Full Text Available Introduction: the Giant Congenital Melanocytic Nevus (GCMN is a pigmented lesion of great size, usually presented since the birth, although some lesions could appear in the first months of life. It is an atypical benign proliferation of melanocytes in the skin that could have curious morphologies. It is associated in some cases to extracutaneous manifestations and melanoma development. It is characterized by a hyperpigmented lesion in different tones of brown and could affect since the brain until the lower limbs. The most frequent location is the posterior trunk, the face, scalp and extremities. Case report: the case of a young female patient with GCMN «in garment» with several satellite lesions is presented in order to carry out a thematic review and to indicate the importance of the control period and following. Conclusion: the GCMN is a benign cutaneous alteration that implies serious esthetic disorders when it increases its size. The treatment difficulties and the medico-social implications must be kept in mind. Rev.cienc.biomed. 2015;6(1:155-159 KEYWORDS Nevus, Pigmented nevus; Melanoma; Melanocytes.

  19. Cellular blebs: pressure-driven, axisymmetric, membrane protrusions

    KAUST Repository

    Woolley, Thomas E.

    2013-07-16

    Blebs are cellular protrusions that are used by cells for multiple purposes including locomotion. A mechanical model for the problem of pressure-driven blebs based on force and moment balances of an axisymmetric shell model is proposed. The formation of a bleb is initiated by weakening the shell over a small region, and the deformation of the cellular membrane from the cortex is obtained during inflation. However, simply weakening the shell leads to an area increase of more than 4 %, which is physically unrealistic. Thus, the model is extended to include a reconfiguration process that allows large blebs to form with small increases in area. It is observed that both geometric and biomechanical constraints are important in this process. In particular, it is shown that although blebs are driven by a pressure difference across the cellular membrane, it is not the limiting factor in determining bleb size. © 2013 Springer-Verlag Berlin Heidelberg.

  20. Rescue of failed filtering blebs with ab interno trephination.

    Science.gov (United States)

    Shihadeh, Wisam A; Ritch, Robert; Liebmann, Jeffrey M

    2006-06-01

    We evaluated the effectiveness of ab interno automated trephination as a technique for rescuing failed mature filtering blebs. A retrospective chart review of 40 failed blebs of 38 patients who had a posttrephination follow-up period of at least 3 months was done. With success defined as intraocular pressure (IOP) control with other modalities of management. Complications were few. We believe that ab interno trephination is an excellent option for rescuing selected failed filtering blebs.

  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. 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.

  3. 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.

  4. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  6. Treatment Options for Congenital Pigmented Nevus

    Science.gov (United States)

    ... sometimes melanocytes that are not destroyed produce more melanin and the brown color comes back. Even so, ... before trying any new product for your nevus. Hair Removal Just a word of caution here. Remember ...

  7. Growth regulation of cultured human nevus cells.

    Science.gov (United States)

    Mancianti, M L; Györfi, T; Shih, I M; Valyi-Nagy, I; Levengood, G; Menssen, H D; Halpern, A C; Elder, D E; Herlyn, M

    1993-03-01

    Cells isolated from congenital melanocytic nevi and cultured in vitro have growth characteristics that resemble their premalignant stage in situ. A serum-free, chemically defined medium has been developed that allows continuous growth of established nevus cultures for up to several months. Like primary melanoma cells, nevus cells in high-calcium-containing W489 medium require insulin for growth. In contrast to melanoma cells, nevus cells in serum-free medium require the presence of alpha-melanocyte-stimulating hormone, which enhanced intracellular levels of cyclic adenosine monophosphate. In contrast to the requirements of normal human melanocytes from newborn foreskin, congenital nevus cells grow with less dependency on basic fibroblast growth factor (bFGF). Nevus cultures contain bFGF-like activity, and they express bFGF mRNA. Nevic cells of compound nevi also express bFGF mRNA in situ but only in the junctional areas. These results indicate that bFGF plays an important growth regulatory role for nevus cells in vitro and in vivo. PMID:8440904

  8. Surgical Repair of Leaking Filtering Blebs Using Two Different Techniques

    Directory of Open Access Journals (Sweden)

    António B Melo

    2012-01-01

    Full Text Available Purpose: To report the outcomes of two different surgical techniques for the repair of late onset bleb leakage following trabeculectomy. Methods: This retrospective study includes 21 eyes of 20 patients with prior trabeculectomy and late-onset bleb leaks; 14 eyes underwent excision of the filtering bleb together with conjunctival advancement while in the other 7 eyes the bleb was retained but de-epithelialized before conjunctival advancement. Success was defined as resolution of leakage with no need for additional glaucoma surgery together with intraocular pressure (IOP of 5-21 mmHg. Complete and qualified success was considered when the above mentioned was achieved without or with glaucoma medications, respectively. Results: Mean duration of follow-up was 20.3΁14.4 months. No significant difference was observed between the two groups in terms of complete, qualified and overall success rates (P>0.05, however more antiglaucoma medications were necessary in the bleb excision group (P=0.02. Conclusions: Both surgical techniques of bleb repair were comparably effective, however the bleb de-epithelialization technique was associated with less need for glaucoma medications after the procedure.

  9. 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.

  10. 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.

  11. 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...

  12. Morphology of functioning trabeculectomy blebs using anterior segment optical coherence tomography

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    Mayuri B Khamar

    2014-01-01

    Full Text Available Purpose: To image trabeculectomy blebs using anterior segment optical coherence tomography (AS-OCT, and to correlate the bleb morphologic features at one month postoperatively with bleb function at six months. Materials and Methods: This prospective, observational study included 56 eyes undergoing trabeculectomy with MMC, followed up for minimum of six months. Postoperatively, bleb imaging was done using AS-OCT at one and six month. Bleb morphology was assessed for bleb wall reflectivity, bleb pattern in multiform reflectivity, visibility of drainage route and presence of hyper-reflectivity area. Bleb function was considered successful if IOP was <18 mmHg without medication at six month. Bleb morphology one month postoperatively was correlated with bleb function at six months. Results: At six months successful bleb function was noted in 44 (81.5% eyes. Morphology of bleb at one month showed uniform bleb wall reflectivity in 6 eyes (11% and multiform wall reflectivity in 48 eyes (89%. In eyes with multiform wall reflectivity, microcysts with multiple layers was seen in 26 eyes (48%, microcysts with subconjunctival separation in 12 eyes (22% and only microcyst in 10 eyes (19%. When bleb features at one month were correlated with the bleb function at six months, logistic regression analysis revealed that blebs with multiform reflectivity with multiple internal layers with microcysts were associated with higher chances of success (P < 0.001. Conclusion : AS-OCT demonstrated early bleb morphological features that may be used to predict the functioning of a bleb. Multiform bleb wall reflectivity with a pattern of multiple internal layers and microcysts was associated with increased chances of success of a bleb.

  13. 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.

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

    OpenAIRE

    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.

  15. 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 ...

  16. 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''.

  17. 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.

  18. Giant congenital melanocytic nevus (bathing trunk nevus associated with lipoma and neurofibroma: Report of two cases

    Directory of Open Access Journals (Sweden)

    Bhagwat P

    2009-01-01

    Full Text Available Giant congenital melanocytic nevi are rare and occur in about one out of every 2,00,000 to 5,00,000 births. There is a significant association between bathing trunk nevus and neurofibromatosis and lipomatosis. Apart from this, association of bathing trunk nevus with abnormalities like spina bifida occulta, meningocele, club foot and hypertrophy or atrophy of deeper structures of a limb, have been described. We are herewith reporting two cases of bathing trunk nevi. In our first case, an eight-year-old girl presented with a bathing trunk nevus studded with multiple, large nodules. Histopathological examination of the biopsy taken from one nodule revealed features of both neurofibroma and lipoma. To the best of our knowledge, features of both these hamartomas in one nodule of a single patient are probably not reported in the literature. In our second case, a 12-year-old girl presented with bathing trunk nevus and she had spina bifida occulta. She also had lipoma in the lesion of bathing trunk nevus. Both of our patients had satellite melanocytic nevi over the face, forearm, upper back and legs. Our second patient, in addition, had small melanocytic nevi over the medial canthus and sclerocorneal junction of the right eye. By the time this girl presented to us, the melanocytic nevus started fading in color and it had become brownish. We are reporting these cases for their peculiarities and for their rare features.

  19. Primary spontaneous pneumothorax due to high bleb burden.

    Science.gov (United States)

    Segraves, Justin M; Dulohery, Megan M

    2016-01-01

    Primary spontaneous pneumothorax (PSP) occurs most frequently in young, tall, lean, male smokers without any known underlying lung disease. It is an important diagnosis to make promptly in order to prevent progression to obstructive shock. We present a case report of a young, male, former-smoker and polysubstance abuser with no prior lung history that developed acute dyspnea at rest and was found to have a large right pneumothorax on chest x-ray. A pig-tail catheter was utilized, but his course was complicated by a recurrent tension pneumothorax. Chest computed tomography (CT) revealed a significant bleb burden and the patient underwent a lung wedge resection with mechanical pleurodesis. What made our case unique were the chest x-rays revealing blebs that could have predicted the patient's recurrent pneumothorax as well as the multiple potential risk factors for developing blebs and a pneumothorax. All patients with recurrent PSPs and those with higher risk initial PSPs (e.g. blebs) should undergo preventive therapy with pleurodesis. We hope that clinicians can benefit from utilizing these representative chest x-ray images showing blebs. PMID:27642566

  20. The size, shape, and dynamics of cellular blebs

    CERN Document Server

    Lim, Fong Yin; Mahadevan, L

    2015-01-01

    A cellular bleb grows when a portion of the cell membrane detaches from the underlying cortex under the influence of a cytoplasmic pressure. We develop a quantitative model for the growth and dynamics of these objects in a simple two-dimensional setting. In particular, we first find the minimum cytoplasmic pressure and minimum unsupported membrane length for a stationary bleb to nucleate and grow as a function of the membrane-cortex adhesion. We next show how a bleb may travel around the periphery of the cell when the cytoplasmic pressure varies in space and time in a prescribed way and find that the traveling speed is governed by the speed of the pressure change induced by local cortical contraction while the shape of the traveling bleb is governed by the speed of cortical healing. Finally, we relax the assumption that the pressure change is prescribed and couple it hydrodynamically to the cortical contraction and membrane deformation. By quantifying the phase space of bleb formation and dynamics, our framew...

  1. 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.

  2. 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.

  3. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    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.

  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. Correlation between hyperthermia-induced membrane blebbing and survival in G/sub 1/ CHO cells

    International Nuclear Information System (INIS)

    G/sub 1/ cells, obtained by mitotic selection, were incubated and heated in suspension culture at 45.50C for 3 - 20 min. Varying degrees of membrane blebbing were induced, ranging from nonblebbed cells indistinguishable from control cells to those with blebs larger than the cell itself. Both the proportion of cells exhibiting blebbing and the mean diameter of the blebs increased with duration of heating. A cell scoring system based on the ratio of the diameter of the largest bleb relative to that of the cell was established. Scoring was done within 30 min after heating, after which time blebs either were released from the cells or were reabsorbed. The percent of heated cells having blebs smaller than 50% of the cell diameter equalled the percent of cells survivivg. This relationship was confirmed by scoring single cells both for blebbing and for their ability to form colonies. Electron microscopy demonstrated that the subcellular organelles, except for ribosomes and microtubules, were absent from the blebs, and found within a juxtanuclear region in the blebbed cells. Freeze fracture replicas revealed no changes in membrane ultrastructure, either on the blebs or cell body. The only exception was a small number of blebs which contained bald patches devoid of membrane particles

  6. 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.

  7. Nevus lipomatosus cutaneous superficialis: Case report

    OpenAIRE

    İsmail Hamdi Kara; Sevdegül Mungan; Hikmet Akyazı; Davut Baltacı

    2011-01-01

    Nevus lipomatosus cutaneous superficialis (NLS) is arare skin malformation characterized by ectopic adipocytein upper dermis. It is composed of multiple nodular andpapular lesions localized especially on lower part of trunkand gluteal region. These lesions have linear and zosterform pattern. In our case, 42 years-old woman admitted toour clinic, presenting with non-painful and non-itchy bulkylesion gradually increased on her upper back region since5 years. On her examination, multiple nodulo-...

  8. Verrucous Spitz Nevus in a Japanese Female

    Directory of Open Access Journals (Sweden)

    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.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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

  14. Hair Follicle Nevus: A Case Report

    Directory of Open Access Journals (Sweden)

    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.

  15. High nevus counts confer a favorable prognosis in melanoma patients

    OpenAIRE

    Ribero, Simone; Davies, John R; Requena, Celia; Carrera, Cristina; Glass, Daniel; Rull, Ramon; Vidal-Sicart, Sergi; Vilalta, Antonio; Alos, Lucia; Soriano, Virtudes; Quaglino, Pietro; Traves, Victor; Newton-Bishop, Julia A; Nagore, Eduardo; Malvehy, Josep

    2015-01-01

    A high number of nevi is the most significant phenotypic risk factor for melanoma and is in part genetically determined. The number of nevi decreases from middle age onward but this senescence can be delayed in patients with melanoma. We investigated the effects of nevus number count on sentinel node status and melanoma survival in a large cohort of melanoma cases. Out of 2,184 melanoma cases, 684 (31.3%) had a high nevus count (>50). High nevus counts were associated with favorable progno...

  16. Bilateral Ota nevus in a 15 years old patient

    Directory of Open Access Journals (Sweden)

    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

  17. 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.

  18. A Pleuroperitoneal Bleb Mimicking an Intrathoracic Mass in a Cirrhotic Patient: Three Case Reports

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jun Ho; Lee, Kyung Hee; Cho, Soon Gu; Jeon, Yong Sun [Inha University Hospital, Incheon (Korea, Republic of)

    2009-07-15

    In a cirrhotic patient, an increase in intra-abdominal pressure due to the presence of ascites might lead to a small pleuroperitoneal bleb of the peritoneum from congenital defects in the hemithorax. This lesion may appear as an intrathoracic mass as seen on a simple chest radiograph. A CT image may be helpful to differentiate an ascitic pleuroperitoneal bleb from an intrathoracic mass. We present three cases of a pleuroperitoneal bleb in patients with liver cirrhosis and ascites.

  19. Nevus of Ota: A series of 15 cases

    Directory of Open Access Journals (Sweden)

    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.

  20. 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 ... resources for connecting with others via email lists, Facebook and in-person. There is a massive amount ...

  1. 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.

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

    Directory of Open Access Journals (Sweden)

    Sanjeev Gupta

    2010-01-01

    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.

  3. Four Different Tumors Arising in a Nevus Sebaceous

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    Takeshi Namiki

    2016-04-01

    Full Text Available Nevus sebaceous is known by its association with one or more secondary tumors, but more than three multiple tumors arising from a nevus sebaceous is extremely rare. A 67-year-old female presented with a light brown plaque on the back of her head that contained a dome-shaped black node and an erosive lesion. Histopathological examination showed atypical basaloid cells in the black node. At the periphery of that node, structures resembling follicular germs extruded from interlacing cords in the upper portion and tumor nests with sebocytes were in the lower portion. In the erosive lesion, papillated structures with an apocrine epithelium were observed. In the light brown plaque, enlargement of sebaceous lobules was noted. From those histopathological features, a diagnosis of syringocystadenoma papilliferum, sebaceoma, trichoblastoma and basal cell carcinoma arising from a nevus sebaceous was made. We discuss the rarity of multiple tumors arising from a nevus sebaceous.

  4. Four Different Tumors Arising in a Nevus Sebaceous.

    Science.gov (United States)

    Namiki, Takeshi; Miura, Keiko; Ueno, Makiko; Arima, Yumi; Nishizawa, Aya; Yokozeki, Hiroo

    2016-01-01

    Nevus sebaceous is known by its association with one or more secondary tumors, but more than three multiple tumors arising from a nevus sebaceous is extremely rare. A 67-year-old female presented with a light brown plaque on the back of her head that contained a dome-shaped black node and an erosive lesion. Histopathological examination showed atypical basaloid cells in the black node. At the periphery of that node, structures resembling follicular germs extruded from interlacing cords in the upper portion and tumor nests with sebocytes were in the lower portion. In the erosive lesion, papillated structures with an apocrine epithelium were observed. In the light brown plaque, enlargement of sebaceous lobules was noted. From those histopathological features, a diagnosis of syringocystadenoma papilliferum, sebaceoma, trichoblastoma and basal cell carcinoma arising from a nevus sebaceous was made. We discuss the rarity of multiple tumors arising from a nevus sebaceous. PMID:27194974

  5. 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.

  6. 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.

  7. 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

  8. Nevus lipomatosus cutaneous superficialis: Case report

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    İsmail Hamdi Kara

    2011-12-01

    Full Text Available Nevus lipomatosus cutaneous superficialis (NLS is arare skin malformation characterized by ectopic adipocytein upper dermis. It is composed of multiple nodular andpapular lesions localized especially on lower part of trunkand gluteal region. These lesions have linear and zosterform pattern. In our case, 42 years-old woman admitted toour clinic, presenting with non-painful and non-itchy bulkylesion gradually increased on her upper back region since5 years. On her examination, multiple nodulo-papular lesionswith zoster form pattern localized on lower marginof right scapular region were detected. It was diagnosedas NLS, depending on histopathological investigation.Treatment for NLS is cosmetically surgical excision, andthe patient’s lesion was excised, because it is benign lesion.J Clin Exp Invest 2011; 2 (4: 457-459

  9. 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.

  10. 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.

  11. SH4-domain-induced plasma membrane dynamization promotes bleb-associated cell motility.

    Science.gov (United States)

    Tournaviti, Stella; Hannemann, Sebastian; Terjung, Stefan; Kitzing, Thomas M; Stegmayer, Carolin; Ritzerfeld, Julia; Walther, Paul; Grosse, Robert; Nickel, Walter; Fackler, Oliver T

    2007-11-01

    SH4 domains provide bipartite membrane-targeting signals for oncogenic Src family kinases. Here we report the induction of non-apoptotic plasma membrane (PM) blebbing as a novel and conserved activity of SH4 domains derived from the prototypic Src kinases Src, Fyn, Yes and Lck as well as the HASPB protein of Leishmania parasites. SH4-domain-induced blebbing is highly dynamic, with bleb formation and collapse displaying distinct kinetics. These reorganizations of the PM are controlled by Rho but not Rac or Cdc42 GTPase signalling pathways. SH4-induced membrane blebbing requires the membrane association of the SH4 domain, is regulated by the activities of Rock kinase and myosin II ATPase, and depends on the integrity of F-actin as well as microtubules. Endogenous Src kinase activity is crucial for PM blebbing in SH4-domain-expressing cells, active Src and Rock kinases are enriched in SH4-domain-induced PM blebs, and PM blebbing correlates with enhanced cell invasion in 3D matrices. These results establish a novel link between SH4 domains, Src activity and Rho signalling, and implicate SH4-domain-mediated PM dynamization as a mechanism that influences invasiveness of cells transformed by SH4-domain-containing oncoproteins. PMID:17959630

  12. Early cystic bleb needling revision after glaucoma filtering surgery with toxic keratopathy

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    S. Yu. Petrov

    2015-01-01

    Full Text Available Clinical case of high thin-wall cystic limited filtering bleb needling revision in the early post-op period after trabeculectomy with sinusotomy accompanied by toxic keratopathy is presented. Optical coherence tomography (OCT demonstrated that filtering bleb height was 2700 μm and bleb wall thickness was 70 μm. Bleb needling revision with its lateralwall dissection and subconjunctival injection of dexamethasone, fluorouracil, and ranibizumab near to the bleb site was performed. In 1.5 hours after the procedure, bleb height decreased to 550 μm (by 5 times while bleb wall thickness increased up to 100 μm. Topical antibacterial, steroid, and non-steroid anti-inflammatory therapy was recommended. The next day IOP level reduced from 11 mm Hg to 4.5 mm Hg. It was accompanied by choroidal effusion that was managed conservatively with cycloplegic agents (drops and injections for 3 days. On day 6, central corneal edema affecting all layers, Descemet’s membrane folds, and ocular hypertension were revealed. Metabolic therapy resolved corneal edema within 3 days. Re-needling bleb revision decreased IOP level to 6.2 mm Hg. This resulted in transient Descemet’s membrane folds. This paper describes filtering bleb needling revision with its lateral wall dissection and anti-inflammatory, cytostatic, and anti-VEGF agents use to prolong glaucoma filtering surgery effect in excessive scarring. The procedure was accompanied by toxic corneal endothelium decompensation with corneal edema and Descemet’s membrane folds treated with active metabolic therapy.

  13. Early cystic bleb needling revision after glaucoma filtering surgery with toxic keratopathy

    Directory of Open Access Journals (Sweden)

    S. Yu. Petrov

    2014-01-01

    Full Text Available Clinical case of high thin-wall cystic limited filtering bleb needling revision in the early post-op period after trabeculectomy with sinusotomy accompanied by toxic keratopathy is presented. Optical coherence tomography (OCT demonstrated that filtering bleb height was 2700 μm and bleb wall thickness was 70 μm. Bleb needling revision with its lateralwall dissection and subconjunctival injection of dexamethasone, fluorouracil, and ranibizumab near to the bleb site was performed. In 1.5 hours after the procedure, bleb height decreased to 550 μm (by 5 times while bleb wall thickness increased up to 100 μm. Topical antibacterial, steroid, and non-steroid anti-inflammatory therapy was recommended. The next day IOP level reduced from 11 mm Hg to 4.5 mm Hg. It was accompanied by choroidal effusion that was managed conservatively with cycloplegic agents (drops and injections for 3 days. On day 6, central corneal edema affecting all layers, Descemet’s membrane folds, and ocular hypertension were revealed. Metabolic therapy resolved corneal edema within 3 days. Re-needling bleb revision decreased IOP level to 6.2 mm Hg. This resulted in transient Descemet’s membrane folds. This paper describes filtering bleb needling revision with its lateral wall dissection and anti-inflammatory, cytostatic, and anti-VEGF agents use to prolong glaucoma filtering surgery effect in excessive scarring. The procedure was accompanied by toxic corneal endothelium decompensation with corneal edema and Descemet’s membrane folds treated with active metabolic therapy.

  14. 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.

  15. 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.

  16. Incidence of bleb-associated endophthalmitis in the United States

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    Vaziri K

    2015-02-01

    Full Text Available Kamyar Vaziri,1 Krishna Kishor,1 Stephen G Schwartz,1 Arindel S Maharaj,1 Darius M Moshfeghi,2 Andrew A Moshfeghi,3 Harry W Flynn Jr1 1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami, Miller School of Medicine, Miami, FL, USA; 2Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, USA; 3USC Eye Institute, Department of Ophthalmology, University of Southern California Keck School of Medicine, Los Angeles, CA, USA Purpose: To evaluate the 5-year incidence rate of blebitis and bleb-associated endophthalmitis in the United States. Methods: In this retrospective cross-sectional study, we utilized a large commercial health insurance claim-based database during 2007–2011 and identified all patients who had a record of trabeculectomy in 2007. These patients were followed until the end of 2011. During the follow-up period, all incidences of blebitis, confirmed bleb-associated endophthalmitis, and presumed bleb-associated endophthalmitis were recorded. Kaplan–Meier survival analysis was utilized to calculate 5-year cumulative incidence rates of blebitis and bleb-associated endophthalmitis following trabeculectomy procedures. Results: Among the 1,461 trabeculectomies included in our analysis, eight cases of blebitis, five cases of confirmed bleb-associated endophthalmitis, and eight cases of presumed bleb-associated endophthalmitis were identified. We found that the 5-year cumulative incidence of blebitis was 0.55%±0.19%. The 5-year cumulative incidence of bleb-associated endophthalmitis was 0.45%±0.2% when only confirmed cases were included and 1.3%±0.34% when presumed cases were also added to the analysis. The mean time from procedure to diagnosis was 45 months for blebitis and 33 months for bleb-associated endophthalmitis. Conclusion: Blebitis and bleb-related endophthalmitis are uncommon in the United States. The 5-year cumulative incidence was 0.55% for blebitis

  17. 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.

  18. Melanoma conjuntival multifocal recidivado originado de nevus pigmentado preexistente

    OpenAIRE

    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 histopatológico e o estadiamento precoce da ...

  19. 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.

  20. 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

  1. 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.

  2. Late-Onset Glaucoma-Filtrating Bleb Leak in a Penetrating Keratoplasty Patient: A Case Report

    OpenAIRE

    Zuleyha Yalniz-Akkaya; Ayse Burcu; Firdevs Ornek

    2012-01-01

    Introduction. Late-onset bleb leaks occur more frequently after the use of adjunctive antimetabolites and require surgical management to seal and preserve filtrating bleb. Case Presentation. A 48-year-old female presented with decreased visual acuity for five days in her left eye. She had a left penetrating keratoplasty one year earlier and two trabeculectomies 7 years earlier. Visual acuity was hand motions, intraocular pressure was 3 mmHg, corneal graft was clear, mature cataract was presen...

  3. 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

  4. 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.

  5. 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.

  6. 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.

  7. Congenital melanocytic nevus studded with strawberry haemangioma on the scalp

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    Mahajan B

    2003-01-01

    Full Text Available A six-month-old male infant presented with congenital melanocytic nevus (CMN studded with strawberry haemangioma on the right side of scalp since birth. Both lesions were gradually increasing up to the present size. The case is being reported for its rare occurrence.

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

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    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.

  9. Prevalence of Becker Nevus in Young Men

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    Ercan Karabacak

    2013-05-01

    Full Text Available Background and Design: Becker nevus (BN, characterized by sharply and irregularly bordered, unilaterally localized, hyperpigmented macules and patches which can go along with hypertrichosis, is a kind of hamartomatous lesion that predominantly affects males 4-6 times more frequently than females. It is usually seen in peripubertal period. There are scarce epidemiological data on BN and the prevalence in our country is also unknown. In this prospective, cross-sectional study, we aimed to determine the prevalence of BN among young adult males in Turkey.Materials and Methods: 8207 male candidates from different regions of Turkey who would be selected as a student in a governmental school and were referred to the dermatology outpatient clinic between March 2012 and August 2012, were included in our study. In addition to comprehensive medical examination, candidates were also inspected for the presence of BN, its localization, the asociation with hypertrichosis, and the findings were recorded.Results: The mean age of the candidates was 20.02±1.40 (range: 18-22 years and the mean age at BN onset was 12.2. BN was detected in 68 out of 8207 candidates (two different localizations in one subject. The prevalence of BN was calculated as 0.82%. The distribution of BN localization was as follows: mostly on the pectoral region ( 24.64%, and in decreasing order, on the scapular region (23.18%, shoulder (18.84%, infrascapular region (17.39%, arm (5.80%, abdomen (5.80% and the thigh (4.35%. Hypertrichosis was present on 34 out of 69 BN (49.2% that were found in 68 subjects.Conclusion: In our study, it was determined that BN was mainly localized on the pectoral and scapular regions, the prevalence was 0.82% and, 49,2% of the lesions were hypertrichotic.

  10. Automatic differentiation of melanoma and clark nevus skin lesions

    Science.gov (United States)

    LeAnder, R. W.; Kasture, A.; Pandey, A.; Umbaugh, S. E.

    2007-03-01

    Skin cancer is the most common form of cancer in the United States. Although melanoma accounts for just 11% of all types of skin cancer, it is responsible for most of the deaths, claiming more than 7910 lives annually. Melanoma is visually difficult for clinicians to differentiate from Clark nevus lesions which are benign. The application of pattern recognition techniques to these lesions may be useful as an educational tool for teaching physicians to differentiate lesions, as well as for contributing information about the essential optical characteristics that identify them. Purpose: This study sought to find the most effective features to extract from melanoma, melanoma in situ and Clark nevus lesions, and to find the most effective pattern-classification criteria and algorithms for differentiating those lesions, using the Computer Vision and Image Processing Tools (CVIPtools) software package. Methods: Due to changes in ambient lighting during the photographic process, color differences between images can occur. These differences were minimized by capturing dermoscopic images instead of photographic images. Differences in skin color between patients were minimized via image color normalization, by converting original color images to relative-color images. Relative-color images also helped minimize changes in color that occur due to changes in the photographic and digitization processes. Tumors in the relative-color images were segmented and morphologically filtered. Filtered, relative-color, tumor features were then extracted and various pattern-classification schemes were applied. Results: Experimentation resulted in four useful pattern classification methods, the best of which was an overall classification rate of 100% for melanoma and melanoma in situ (grouped) and 60% for Clark nevus. Conclusion: Melanoma and melanoma in situ have feature parameters and feature values that are similar enough to be considered one class of tumor that significantly differs from

  11. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    OpenAIRE

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

    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...

  12. Soft Bandage Contact Lenses in Management of Early Bleb Leak Following Trabeculectomy

    Institute of Scientific and Technical Information of China (English)

    Zhenggen Wu; Chukai Huang; Yuqiang Huang; Wanqi Zhang; Di Ma

    2015-01-01

    Purpose:To investigate the efficacy of a soft bandage contact lens in the management of early bleb leak following tra-beculectomy. Methods: Between October 2011 and April 2013, 11 patients with early bleb leak following fornix-based trabeculectomy were instructed to wear a soft bandage contact lens 14 mm in diameter continuously for 1-2 weeks. The daily visual acuity, intraocular pressure (IOP), anterior chamber situation, and healing condition were measured at 1, 3, and 7 d, after con tact lens removal,.and 3 months after trabeculectomy..The con-ditions of blebs,.sensation of wearing contact lens,.and ad-verse events were recorded. Results:.Bleb leaks were observed at 2-8 d after surgery, (4.09±1.10 d on average). The daily LogMAR visual acuity did not significantly differ before and after contact lens wear (P>0.05). The IOP was significantly raised after at 1, 3, and 7 d after lens wear. (all P<0.05).The IOP at 3 months after lens wear did not significantly differ from that measured at lens removal (t=1.191, P=0.089). At 1 d after lens wear, 6 cases had deeper anterior chambers..All patients presented with a significantly deepened anterior chamber at 3 d after lens wear,.and were restored to the preoperative conditions..The bleb leakage was successfully treated at 7 d after lens removal in 10 patients, while 1 patient had to wear the contact lens for another 7 d for full healing of the bleb leak. No ocular infec-tion was noted throughout the management. Conclusion: A soft bandage contact lens of 14 mm diameter is a safe and efficacious therapy for an early bleb leak fol-lowing fornix-based trabeculectomy.

  13. Late-Onset Glaucoma-Filtrating Bleb Leak in a Penetrating Keratoplasty Patient: A Case Report

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    Zuleyha Yalniz-Akkaya

    2012-01-01

    Full Text Available Introduction. Late-onset bleb leaks occur more frequently after the use of adjunctive antimetabolites and require surgical management to seal and preserve filtrating bleb. Case Presentation. A 48-year-old female presented with decreased visual acuity for five days in her left eye. She had a left penetrating keratoplasty one year earlier and two trabeculectomies 7 years earlier. Visual acuity was hand motions, intraocular pressure was 3 mmHg, corneal graft was clear, mature cataract was present, and axial length was 30.48 mm. The conjunctiva covering the superotemporal sclerotomy was avascular, flat, and partially lost. After heavily painting the bleb with a fluorescein, late-onset point leak was revealed. Overlying conjunctiva was excised. The atrophic, irregular, and partially absent scleral flap was covered by a processed human pericardium graft and conjunctival advancement. Postoperatively, intraocular pressure stabilized around 16 mmHg. After four months, phacoemulsification and intraocular lens implantation were performed. Visual acuity did not exceed 0.1 (in decimal notation due to degenerative myopia-related macular atrophy. Corneal graft remained clear at her 6-month followup period. Conclusion. Surgical bleb revision using a pericardium graft and conjunctival advancement seems to be an effective method for treating late bleb leaks. However, careful follow-up is required for detecting recurrent leaks and elevated intraocular pressure.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. Lung ultrasound: a valid help in the differential diagnosis between pneumothorax and pulmonary blebs

    Directory of Open Access Journals (Sweden)

    Francesca Sandionigi

    2013-06-01

    Full Text Available Spontaneous pneumothorax is a relatively common disease but its radiological diagnosis can be difficult because of the insufficient sensitivity of chest X-rays. This is even more so when bullous emphysema and acute pneumothorax co-exist. There is evidence that lung ultrasound is a valid instrument to detect a pneumothorax and a valid help in the differential diagnosis between pneumothorax and pulmonary blebs. We present a case which suggests the potential superiority of lung ultrasound on chest radiography in distinguishing free air (pneumothorax from apical blebs, particularly when these are located in the posterior regions and may be easily confused with pneumothorax.

  19. Melanoma conjuntival multifocal recidivado originado de nevus pigmentado preexistente

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    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.

  20. 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.

  1. Thoracoscopic CO laser coagulation shrinkage of blebs in treatment of spontaneous pneumothorax

    Science.gov (United States)

    Sensaki, Koji; Arai, Tsunenori; Kikuchi, Keiichi; Takagi, Keigo; Tanaka, Susumu; Kikuchi, Makoto

    1992-06-01

    Spontaneous pneumothorax is a common disease in young people. Operative intervention has been done in most of the recurrent cases. Recently thoracoscopic treatment has been tested as a less invasive treatment modarity. We adopted carbon monoxide (CO) laser for thoracoscopic treatment of recurrent spontaneous pneumothorax. CO laser (wavelength; 5.4 micrometers ) could be delivered by chalcogenide glass (As - S) covered with a teflon sheath and ZnSe fiber tip. The sterilized flexible bronchoscope was inserted through the thoracoscopic outer sheath under local anesthesia. Shrinkage of blebs was obtained by non-contact method of CO laser irradiation. Laser power at the tip was 2.5 - 5 W and irradiation duration was 0.5 s each. Excellent shrinkage of bleb and bulla could be obtained by CO laser without perforation complication. Advantages of CO laser as a thoracoscopic treatment were: (1) capability of fiber delivery (flexible thoracoscopy was easy to operate and clear to visualize the blebs which were frequently found at the apical portion of the lung, and (2) shallow extinction length (good shrinkage of blebs, low risk of perforation, and thin layer of carbonization). In conclusion, our new technique of thoracoscopic CO laser irradiation was found to be a safe and effective treatment of spontaneous pneumothorax.

  2. Membrane Protein Mobility and Orientation Preserved in Supported Bilayers Created Directly from Cell Plasma Membrane Blebs.

    Science.gov (United States)

    Richards, Mark J; Hsia, Chih-Yun; Singh, Rohit R; Haider, Huma; Kumpf, Julia; Kawate, Toshimitsu; Daniel, Susan

    2016-03-29

    Membrane protein interactions with lipids are crucial for their native biological behavior, yet traditional characterization methods are often carried out on purified protein in the absence of lipids. We present a simple method to transfer membrane proteins expressed in mammalian cells to an assay-friendly, cushioned, supported lipid bilayer platform using cell blebs as an intermediate. Cell blebs, expressing either GPI-linked yellow fluorescent proteins or neon-green fused transmembrane P2X2 receptors, were induced to rupture on glass surfaces using PEGylated lipid vesicles, which resulted in planar supported membranes with over 50% mobility for multipass transmembrane proteins and over 90% for GPI-linked proteins. Fluorescent proteins were tracked, and their diffusion in supported bilayers characterized, using single molecule tracking and moment scaling spectrum (MSS) analysis. Diffusion was characterized for individual proteins as either free or confined, revealing details of the local lipid membrane heterogeneity surrounding the protein. A particularly useful result of our bilayer formation process is the protein orientation in the supported planar bilayer. For both the GPI-linked and transmembrane proteins used here, an enzymatic assay revealed that protein orientation in the planar bilayer results in the extracellular domains facing toward the bulk, and that the dominant mode of bleb rupture is via the "parachute" mechanism. Mobility, orientation, and preservation of the native lipid environment of the proteins using cell blebs offers advantages over proteoliposome reconstitution or disrupted cell membrane preparations, which necessarily result in significant scrambling of protein orientation and typically immobilized membrane proteins in SLBs. The bleb-based bilayer platform presented here is an important step toward integrating membrane proteomic studies on chip, especially for future studies aimed at understanding fundamental effects of lipid interactions

  3. Maitotoxin-induced membrane blebbing and cell death in bovine aortic endothelial cells

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    Schilling William P

    2001-02-01

    Full Text Available Abstract Background Maitotoxin, a potent cytolytic agent, causes an increase in cytosolic free Ca2+ concentration ([Ca2+]i via activation of Ca2+-permeable, non-selective cation channels (CaNSC. Channel activation is followed by formation of large endogenous pores that allow ethidium and propidium-based vital dyes to enter the cell. Although activation of these cytolytic/oncotic pores, or COP, precedes release of lactate dehydrogenase, an indication of oncotic cell death, the relationship between CaNSC, COP, membrane lysis, and the associated changes in cell morphology has not been clearly defined. In the present study, the effect maitotoxin on [Ca2+]i, vital dye uptake, lactate dehydrogenase release, and membrane blebbing was examined in bovine aortic endothelial cells. Results Maitotoxin produced a concentration-dependent increase in [Ca2+]i followed by a biphasic uptake of ethidium. Comparison of ethidium (Mw 314 Da, YO-PRO-1 (Mw 375 Da, and POPO-3 (Mw 715 Da showed that the rate of dye uptake during the first phase was inversely proportional to molecular weight, whereas the second phase appeared to be all-or-nothing. The second phase of dye uptake correlated in time with the release of lactate dehydrogenase. Uptake of vital dyes at the single cell level, determined by time-lapse videomicroscopy, was also biphasic. The first phase was associated with formation of small membrane blebs, whereas the second phase was associated with dramatic bleb dilation. Conclusions These results suggest that maitotoxin-induced Ca2+ influx in bovine aortic endothelial cells is followed by activation of COP. COP formation is associated with controlled membrane blebbing which ultimately gives rise to uncontrolled bleb dilation, lactate dehydrogenase release, and oncotic cell death.

  4. Generation of micronuclei during interphase by coupling between cytoplasmic membrane blebbing and nuclear budding.

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    Koh-ichi Utani

    Full Text Available Micronucleation, mediated by interphase nuclear budding, has been repeatedly suggested, but the process is still enigmatic. In the present study, we confirmed the previous observation that there are lamin B1-negative micronuclei in addition to the positive ones. A large cytoplasmic bleb was found to frequently entrap lamin B1-negative micronuclei, which were connected to the nucleus by a thin chromatin stalk. At the bottom of the stalk, the nuclear lamin B1 structure appeared broken. Chromatin extrusion through lamina breaks has been referred to as herniation or a blister of the nucleus, and has been observed after the expression of viral proteins. A cell line in which extrachromosomal double minutes and lamin B1 protein were simultaneously visualized in different colors in live cells was established. By using these cells, time-lapse microscopy revealed that cytoplasmic membrane blebbing occurred simultaneously with the extrusion of nuclear content, which generated lamin B1-negative micronuclei during interphase. Furthermore, activation of cytoplasmic membrane blebbing by the addition of fresh serum or camptothecin induced nuclear budding within 1 to 10 minutes, which suggested that blebbing might be the cause of the budding. After the induction of blebbing, the frequency of lamin-negative micronuclei increased. The budding was most frequent during S phase and more efficiently entrapped small extrachromosomal chromatin than the large chromosome arm. Based on these results, we suggest a novel mechanism in which cytoplasmic membrane dynamics pulls the chromatin out of the nucleus through the lamina break. Evidence for such a mechanism was obtained in certain cancer cell lines including human COLO 320 and HeLa. The mechanism could significantly perturb the genome and influence cancer cell phenotypes.

  5. Neurofibroma and lipoma in association with giant congenital melanocytic nevus coexisting in one nodule: a case report.

    Science.gov (United States)

    Shang, Zhiwei; Dai, Tao; Ren, Yongqiang

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) are rare conditions that defined as melanocytic lesion recognized at birth, which will reach a diameter larger than 20 cm, and they occur in about 1 per 500,000 newborns. Despite its rarity, they may associate with severe abnormalities like spina bifida occulta, meningocele, club foot and hypertrophy or atrophy of deeper structures of a limb, Carney complex, premature aging syndromes, neurofibroma, vitiligo, lipoma and dysplasia of bilateral hip impact on the patient. In this case, we report a 3-years-old male child presenting a GCMN with large, blackish, and thick nevus covering over the entire neck, back, and lower to the waist level. We highlight the importance of proper histopathological examination of the biopsy taken from the single huge nodule which revealed features of both neurofibroma and lipoma coexisting. The objective of this paper is to report a rare case with the clinical and pathologic findings. PMID:26379904

  6. 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.

  7. Nevus of the Eyelid Margin Mimicking a Malignant Melanoma

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    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.

  8. Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus

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    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.

  9. [Vascular nevus. A study of its frequency, types and course].

    Science.gov (United States)

    Tincopa Wong, O; Meléndez Guevara, G; Peláez Gutiérrez, R; Sánchez Aznaran, N; Paolo Razuri, C

    1990-01-01

    It is presented a prospective study of vascular nevus during a year, with the finality to know its frequency, types and evolution. In twelve months of study, we founded in 1,485 borns that 14.14% presented those lesiones salmon stain 86%, oport wine 1.35%, capilar hemangioma or in strawberry the 10.81%, cavernous hemangioma the 0.45% and mixed hemangioma the 1.35%. Where more frequent in females that in males as well as from the urban zone in almost more than the half of the cases. Dimensions were between 0 to 5 cm. range, 98% in salmon stain, 95% in strawberry hemangioma, 66.3% mixed hemangioma, 66.6% in oport wine stain distributed in the head in more proportion. There was salmon stain in the nape in 61.7%, 15% in the forehead and in the superior eyelids 14.3%. The familiar antecedents of vascular nevus in brothers was of 4.76%, 5.71% in uncle, 2.98% in parents and 1.43% in grandparents. The evolution was not concluded because of desertion in almost the totality of patients, finalizing with only the 6.66%. Our findings are different from those published in the literature. The total frequency is more in our experience in salmon, oport wine stains and hemangiomas. PMID:2214937

  10. Lung ultrasound: a valid help in the differential diagnosis between pneumothorax and pulmonary blebs

    OpenAIRE

    Francesca Sandionigi; Francesca Cortellaro; Elisa Forni; Daniele Coen

    2013-01-01

    Spontaneous pneumothorax is a relatively common disease but its radiological diagnosis can be difficult because of the insufficient sensitivity of chest X-rays. This is even more so when bullous emphysema and acute pneumothorax co-exist. There is evidence that lung ultrasound is a valid instrument to detect a pneumothorax and a valid help in the differential diagnosis between pneumothorax and pulmonary blebs. We present a case which suggests the potential superiority of lung ultrasound on che...

  11. Endovascular coil embolization of aneurysm neck for the treatment of ruptured intracranial aneurysm with bleb formation

    OpenAIRE

    Wan, Jun; Gu, Weijin; Zhang, Xiaolong; Geng, Daoying; Lu, Gang; Huang, Lei; Zhang, Lei; Ge, Liang; Ji, Lihua

    2014-01-01

    Background Ruptured intracranial aneurysm (ICA) with bleb formation (RICABF) is a special type of ruptured ICA. However, the exact role and effectiveness of endovascular coil embolization (ECE) in RICABF is unknown. We aimed to investigate the effectiveness and safety of ECE of aneurysm neck for RICABF treatment. Material/Methods We retrospectively assessed consecutive patients who were hospitalized in our endovascular intervention center between October 2004 and May 2012. Overall, 86 patient...

  12. Good functional recovery following intervention for delayed suprachoroidal haemorrhage post bleb needling: a case report

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    Cannon Paul S

    2008-03-01

    Full Text Available Abstract Introduction Bleb needling is a recognised procedure in the management of patients with failing trabeculectomies. Suprachoroidal haemorrhage can occur as an unusual complication. We report a pseudophakic man who had early surgical intervention for this complication. This intervention may have contributed to the good recovery of his visual acuity and the minimum changes to his visual fields. Case presentation A 79-year-old pseudophakic man with chronic open angle glaucoma presented with further deterioration of his right visual field despite maximum medical therapy and a previous trabeculectomy. The right visual acuity was 6/9 with an intraocular pressure (IOP of 16 mmHg. Bleb needling with 5-fluouracil was performed in a standard manner. His postoperative IOP was 6 mmHg. Thirty-six hours later the visual acuity was reduced to hand movements and two large choroidal detachments where observed clinically, which progressed to suprachoroidal haemorrhages. Five days after the initial needling, the patient had complex surgery involving anterior chamber reformation, a bleb compression suture and drainage of the haemorrhagic suprachoroidal detachments. Subsequently, the patient had a right vitrectomy with endolaser following a vitreous haemorrhage. The final visual acuity was 6/9 with an intraocular pressure of 8 mmHg on travoprost and brinzolamide. The final visual field showed little change when compared with the pre-suprachoroidal haemorrhage visual field. Conclusion It is important to consider the possibility of delayed suprachoroidal haemorrhage as a complication in bleb needling, and early surgical intervention may be beneficial.

  13. Good functional recovery following intervention for delayed suprachoroidal haemorrhage post bleb needling: a case report

    OpenAIRE

    Cannon Paul S; Spencer A; Lavin Michael

    2008-01-01

    Abstract Introduction Bleb needling is a recognised procedure in the management of patients with failing trabeculectomies. Suprachoroidal haemorrhage can occur as an unusual complication. We report a pseudophakic man who had early surgical intervention for this complication. This intervention may have contributed to the good recovery of his visual acuity and the minimum changes to his visual fields. Case presentation A 79-year-old pseudophakic man with chronic open angle glaucoma presented wi...

  14. Flat pigmented macules on sun-damaged skin of the head/neck: junctional nevus, atypical lentiginous nevus, or melanoma in situ?

    Science.gov (United States)

    Zalaudek, Iris; Cota, Carlo; Ferrara, Gerardo; Moscarella, Elvira; Guitera, Pascale; Longo, Caterina; Piana, Simonetta; Argenziano, Giuseppe

    2014-01-01

    The clinical recognition of lentigo maligna (LM) in the mottled chronic sun-damaged skin can be challenging, because it shares many clinical features with other pigmented macules that commonly arise on sun-damaged skin. These include solar lentigo, flat seborrheic keratosis, and pigmented actinic keratosis, but almost never "nevus." The reason nevus is not included in the differential diagnosis of LM can be explained by the fact that the stereotypical appearance of a facial nevus differs remarkably from that of an LM. Facial nevi in adults are usually nodular, dome-shaped, well-defined, and hypopigmented (i.e., intradermal nevus of the Miescher type), whereas LM typically appears as a flat, ill-defined, and pigmented macule. Although this concept based on clinical observations sounds reasonable, clinicians apply it often only unconsciously and accept a given histopathologic diagnosis of a "junctional or lentiginous nevus" of a flat pigmented facial macule without the necessary criticism about its clinicopathologic validity. PMID:24314381

  15. 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.

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

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    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.

  17. Management of the late leaking filtration blebs. A report of seven cases and a selective review of the literature.

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    Mandal A

    2001-01-01

    Full Text Available PURPOSE: To describe the outcome of various treatment modalities in the management of late bleb leaks after glaucoma filtering surgery (GFS. MATERIALS AND METHODS: Seven consecutive patients treated for late bleb leaks (Seidel′s positive between July 1990 and June 1999 were were enrolled in the study. The management strategy consisted of initial conservative therapy, and tailored surgery, if necessary. The surgical technique employed was either conjunctival-Tenon′s advancement flap, hinged scleral flap, or fistulectomy with direct suturing. The main outcome measures were bleb characteristics and postoperative intraocular pressure (IOP. The secondary outcome measure was visual acuity. RESULTS: One patient responded to conservative therapy (aqueous suppressants, bandage contact lens and six patients needed surgery. The successful surgical technique was conjunctivo-Tenon′s advancement flap in three, hinged scleral flap in two, and fistulectomy-direct suturing to the wound (combined with cataract surgery and intraocular lens implantation in one patient. The bleb leak stopped in all cases and 5 of the 6 surgical patients sustained functioning filtering blebs. Follow-up ranged from 8 to 56 months (mean = 20.4 +/- 16.2 months. Visual acuity improved to 6/12 or better in 4 cases, 6/36 in 2 cases and it remained at light perception in one case. None of the patients had any intraoperative or postoperative complications. CONCLUSIONS: Late leaking blebs after GFS can be treated successfully. The management decision and selection of surgical technique should be based on the clinical condition.

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

    OpenAIRE

    Guledgud, Mahima V.; Karthikeya Patil; Srikanth H Srivathsa; 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 manifestatio...

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

    Science.gov (United States)

    Mittal, Kundan; Kaushik, Jaya Shankar; Kaur, Gurpreet; Aamir, Mohd; Sharma, Suvasini

    2014-01-01

    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. PMID:25024575

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

    Directory of Open Access Journals (Sweden)

    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. Force spectroscopy measurements show that cortical neurons exposed to excitotoxic agonists stiffen before showing evidence of bleb damage.

    Directory of Open Access Journals (Sweden)

    Shan Zou

    Full Text Available In ischemic and traumatic brain injury, hyperactivated glutamate (N-methyl-D-aspartic acid, NMDA and sodium (Nav channels trigger excitotoxic neuron death. Na(+, Ca(++ and H2O influx into affected neurons elicits swelling (increased cell volume and pathological blebbing (disassociation of the plasma membrane's bilayer from its spectrin-actomyosin matrix. Though usually conflated in injured tissue, cell swelling and blebbing are distinct processes. Around an injury core, salvageable neurons could be mildly swollen without yet having suffered the bleb-type membrane damage that, by rendering channels leaky and pumps dysfunctional, exacerbates the excitotoxic positive feedback spiral. Recognizing when neuronal inflation signifies non-lethal osmotic swelling versus blebbing should further efforts to salvage injury-penumbra neurons. To assess whether the mechanical properties of osmotically-swollen versus excitotoxically-blebbing neurons might be cytomechanically distinguishable, we measured cortical neuron elasticity (gauged via atomic force microscopy (AFM-based force spectroscopy upon brief exposure to hypotonicity or to excitotoxic agonists (glutamate and Nav channel activators, NMDA and veratridine. Though unperturbed by solution exchange per se, elasticity increased abruptly with hypotonicity, with NMDA and with veratridine. Neurons then invariably softened towards or below the pre-treatment level, sometimes starting before the washout. The initial channel-mediated stiffening bespeaks an abrupt elevation of hydrostatic pressure linked to NMDA or Nav channel-mediated ion/H2O fluxes, together with increased [Ca(++]int-mediated submembrane actomyosin contractility. The subsequent softening to below-control levels is consistent with the onset of a lethal level of bleb damage. These findings indicate that dissection/identification of molecular events during the excitotoxic transition from stiff/swollen to soft/blebbing is warranted and should be

  2. Force spectroscopy measurements show that cortical neurons exposed to excitotoxic agonists stiffen before showing evidence of bleb damage.

    Science.gov (United States)

    Zou, Shan; Chisholm, Roderick; Tauskela, Joseph S; Mealing, Geoff A; Johnston, Linda J; Morris, Catherine E

    2013-01-01

    In ischemic and traumatic brain injury, hyperactivated glutamate (N-methyl-D-aspartic acid, NMDA) and sodium (Nav) channels trigger excitotoxic neuron death. Na(+), Ca(++) and H2O influx into affected neurons elicits swelling (increased cell volume) and pathological blebbing (disassociation of the plasma membrane's bilayer from its spectrin-actomyosin matrix). Though usually conflated in injured tissue, cell swelling and blebbing are distinct processes. Around an injury core, salvageable neurons could be mildly swollen without yet having suffered the bleb-type membrane damage that, by rendering channels leaky and pumps dysfunctional, exacerbates the excitotoxic positive feedback spiral. Recognizing when neuronal inflation signifies non-lethal osmotic swelling versus blebbing should further efforts to salvage injury-penumbra neurons. To assess whether the mechanical properties of osmotically-swollen versus excitotoxically-blebbing neurons might be cytomechanically distinguishable, we measured cortical neuron elasticity (gauged via atomic force microscopy (AFM)-based force spectroscopy) upon brief exposure to hypotonicity or to excitotoxic agonists (glutamate and Nav channel activators, NMDA and veratridine). Though unperturbed by solution exchange per se, elasticity increased abruptly with hypotonicity, with NMDA and with veratridine. Neurons then invariably softened towards or below the pre-treatment level, sometimes starting before the washout. The initial channel-mediated stiffening bespeaks an abrupt elevation of hydrostatic pressure linked to NMDA or Nav channel-mediated ion/H2O fluxes, together with increased [Ca(++)]int-mediated submembrane actomyosin contractility. The subsequent softening to below-control levels is consistent with the onset of a lethal level of bleb damage. These findings indicate that dissection/identification of molecular events during the excitotoxic transition from stiff/swollen to soft/blebbing is warranted and should be feasible. PMID

  3. Evaluation of Filtering Bleb Function after Trabeculectomy with Mitomycin C Using Biomicroscopy, Anterior Segment Optical Coherence Tomography and In Vivo Confocal Microscopy

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    Suzan Güven Yılmaz

    2015-08-01

    Full Text Available Objectives: To analyze and assess compatibility of trabeculectomy filtering bleb characteristics and appearances using biomicroscopy, anterior segment optical coherence tomography (AS-OCT and in vivo confocal microscopy (IVCM. Materials and Methods: Twenty-eight eyes of 28 patients who underwent glaucoma filtering surgery with mitomycin C in our clinic between 2009 and 2013 were evaluated. Morphological appearances of the blebs on slit-lamp biomicroscopy were defined according to the Moorfields bleb classification system. For the internal tissue assessment of blebs, AS-OCT and IVCM were performed. Bleb biometric parameters such as length, height and bleb wall thickness were assessed by AS-OCT; conjunctival epithelial-stromal cyst, structural network of conjunctival stroma and vascularisation were examined with IVCM. The relation between biomicroscopic morphological staging and bleb characteristics detected on AS-OCT and IVCM were assessed. Results: The mean age of the 28 patients (16 male, 12 female was 57.2±15.9 (19 to 79 years. The mean time elapsed between surgery and examination was 29.2±19.2 (6 to 68 months. According to biomicroscopic appearance, 17 (60.7% blebs were functional (13 diffuse, 4 microcystic, whereas 11 (39.3% blebs were non-functional (9 flat, 2 encapsulated. In the comparison of non-functional and functional blebs, functional blebs were found to be superior in terms of biometric parameters on AS-OCT assessment (p<0.05. Higher number of epithelial and stromal cysts and less vascularisation were detected by IVCM in functional blebs when compared with non-functional blebs (p<0.05. Conclusion: Biomicroscopic appearances and characteristics on AS-OCT and IVCM of filtration blebs are consistent with each other. Besides biomicroscopic examination, which is an easy and practical method for determining bleb morphology, cross-sectional images obtained by AS-OCT and IVCM provide objective data regarding internal structure and

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

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    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

  5. Case of late-onset bleb associated endophthalmitis caused by Rothia mucilaginosa.

    Science.gov (United States)

    Oie, Shinya; Mochizuki, Kiyofumi; Ishida, Kyoko; Nakayama, Asami; Ohkusu, Kiyofumi

    2016-09-01

    Rothia mucilaginosa is a gram-positive coagulase-negative coccus of the family Micrococcaceae. Although R. mucilaginosa forms part of the oropharyngeal microflora, it has only recently been isolated in ocular infections. We report a case of a 41-year-old man who developed late-onset bleb-related endophthalmitis (BRE). He had undergone glaucoma surgery 21 years earlier and had a thin-walled cystic bleb prior to the development of endophthalmitis in his right eye. He immediately received intravitreal injections of ceftazidime and vancomycin, topical levofloxacin and cefmenoxime, and intravenous cefozopran. Culture of the aqueous humor specimen identified R. mucilaginosa by 16S rRNA sequence analysis. To our knowledge, this is the first report of late-onset BRE caused by R. mucilaginosa. Our case indicates that R. mucilaginosa can be a cause of late-onset BRE, and that molecular analysis is an accurate method to identify R. mucilaginosa. PMID:27008920

  6. Blood flow drives lumen formation by inverse membrane blebbing during angiogenesis in vivo.

    Science.gov (United States)

    Gebala, Véronique; Collins, Russell; Geudens, Ilse; Phng, Li-Kun; Gerhardt, Holger

    2016-04-01

    How vascular tubes build, maintain and adapt continuously perfused lumens to meet local metabolic needs remains poorly understood. Recent studies showed that blood flow itself plays a critical role in the remodelling of vascular networks, and suggested it is also required for the lumenization of new vascular connections. However, it is still unknown how haemodynamic forces contribute to the formation of new vascular lumens during blood vessel morphogenesis. Here we report that blood flow drives lumen expansion during sprouting angiogenesis in vivo by inducing spherical deformations of the apical membrane of endothelial cells, in a process that we have termed inverse blebbing. We show that endothelial cells react to these membrane intrusions by local and transient recruitment and contraction of actomyosin, and that this mechanism is required for single, unidirectional lumen expansion in angiogenic sprouts. Our work identifies inverse membrane blebbing as a cellular response to high external pressure. We show that in the case of blood vessels such membrane dynamics can drive local cell shape changes required for global tissue morphogenesis, shedding light on a pressure-driven mechanism of lumen formation in vertebrates.

  7. Analysis of a model microswimmer with applications to blebbing cells and mini-robots

    CERN Document Server

    Wang, Qixuan

    2016-01-01

    Recent research has shown that motile cells can adapt their mode of propulsion depending on the environment in which they find themselves. One mode is swimming by blebbing or other shape changes, and in this paper we analyze a class of models for movement of cells by blebbing and of nano- robots in a viscous fluid at low Reynolds number. At the level of individuals, the shape changes comprise volume exchanges between connected spheres that can control their separation, which are simple enough that significant analytical results can be obtained. The goal is to understand how the efficiency of move- ment depends on the amplitude and period of the volume exchanges when the spheres approach closely during a cycle. Previous analyses were predicated on wide separation, and we show that the speed in- creases significantly as the separation decreases due to the strong hydrodynamic interactions between spheres in close proximity. The scallop theorem asserts that at least two degrees of freedom are needed to produce ne...

  8. Interaction of c-Cbl with myosin IIA regulates Bleb associated macropinocytosis of Kaposi's sarcoma-associated herpesvirus.

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    Mohanan Valiya Veettil

    Full Text Available KSHV is etiologically associated with Kaposi's sarcoma (KS, an angioproliferative endothelial cell malignancy. Macropinocytosis is the predominant mode of in vitro entry of KSHV into its natural target cells, human dermal microvascular endothelial (HMVEC-d cells. Although macropinocytosis is known to be a major route of entry for many viruses, the molecule(s involved in the recruitment and integration of signaling early during macropinosome formation is less well studied. Here we demonstrate that tyrosine phosphorylation of the adaptor protein c-Cbl is required for KSHV induced membrane blebbing and macropinocytosis. KSHV induced the tyrosine phosphorylation of c-Cbl as early as 1 min post-infection and was recruited to the sites of bleb formation. Infection also led to an increase in the interaction of c-Cbl with PI3-K p85 in a time dependent manner. c-Cbl shRNA decreased the formation of KSHV induced membrane blebs and macropinocytosis as well as virus entry. Immunoprecipitation of c-Cbl followed by mass spectrometry identified the interaction of c-Cbl with a novel molecular partner, non-muscle myosin heavy chain IIA (myosin IIA, in bleb associated macropinocytosis. Phosphorylated c-Cbl colocalized with phospho-myosin light chain II in the interior of blebs of infected cells and this interaction was abolished by c-Cbl shRNA. Studies with the myosin II inhibitor blebbistatin demonstrated that myosin IIA is a biologically significant component of the c-Cbl signaling pathway and c-Cbl plays a new role in the recruitment of myosin IIA to the blebs during KSHV infection. Myosin II associates with actin in KSHV induced blebs and the absence of actin and myosin ubiquitination in c-Cbl ShRNA cells suggested that c-Cbl is also responsible for the ubiquitination of these proteins in the infected cells. This is the first study demonstrating the role of c-Cbl in viral entry as well as macropinocytosis, and provides the evidence that a signaling complex

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

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    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.

  10. 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.

  11. 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

  12. 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.

  13. 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.

  14. Nevus anemicus: a distinctive cutaneous finding in neurofibromatosis type 1.

    Science.gov (United States)

    Hernández-Martín, Angela; García-Martínez, Francisco Javier; Duat, Anna; López-Martín, Inmaculada; Noguera-Morel, Lucero; Torrelo, Antonio

    2015-01-01

    Nevus anemicus (NA) is a cutaneous anomaly characterized by pale, well-defined patches with limited vascularization after rubbing. They are largely known to be associated with neurofibromatosis 1 (NF1) and have received little attention in the literature until recently. We sought to characterize the prevalence and clinical features of patients with NA and NF1. We conducted an observational prospective study of 99 children with NF1 at the Hospital Niño Jesús, Madrid, Spain, from January 1, 2012, through July 31, 2013, and reviewed three other series of patients with NF1 and NA recently reported. The prevalence of NA in children with NF1 ranged from 8.8% to 51%, being much more prevalent at younger ages. Prospective studies yielded a higher prevalence than retrospective studies. NA was located most commonly on the trunk, particularly on the anterior chest wall, and was often multiple. Patients with segmental NF1 or isolated café au lait spots rarely had NA, and NA was absent in other genodermatoses. The collection of data was not homogeneous in all studies. NA has a high prevalence in individuals with NF1 patients but seems to be absent in connection with other genodermatoses, therefore its presence can assist in the diagnosis of suspected cases of NF1. The subtle clinical appearance of NA makes its detection difficult, and physicians involved in the care of children with NF1 must be aware of its possible presence and significance. PMID:25690591

  15. 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. PMID:25664413

  16. 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.

  17. Postoperative Changes in Aqueous Monocyte Chemotactic Protein-1 Levels and Bleb Morphology after Trabeculectomy vs. Ex-PRESS Shunt Surgery.

    Directory of Open Access Journals (Sweden)

    Kohei Shobayashi

    Full Text Available To evaluate the postoperative changes in blebs and levels of aqueous monocyte chemotactic protein-1 (MCP-1 after trabeculectomy vs. Ex-PRESS tube shunt surgery.Rabbits were subjected to trabeculectomy or Ex-PRESS tube shunt surgery and observed for up to 3 months. Intraocular pressure (IOP was measured using a rebound tonometer. The MCP-1 level was measured by enzyme-linked immunosorbent assay (ELISA. Bleb morphology was evaluated using photos and anterior-segment optical coherence tomography (OCT.There were no differences in bleb appearance or IOP at any time between the groups. Bleb wall density in the anterior-segment OCT image was significantly lower 1 week after surgery in the Ex-PRESS group than the trabeculectomy group. The MCP-1 level in control eyes was 304.1 ± 45.2 pg/mL. In the trabeculectomy group, the mean aqueous MCP-1 level was 1444.9, 1914.3, 1899.8, 516.4, 398.3, 427.3, 609.5, 1612.7, 386.2, and 167.9 pg/mL at 3, 6, and 12 h, and 1, 2, 5, 7, 14, 30, and 90 days after surgery, respectively. In the Ex-PRESS group, the corresponding values were 1744.0, 1372.0, 932.5, 711.7, 396.1, 487.3, 799.5, 1327.9, 293.6, and 184.0 pg/mL. There were no significant differences in the aqueous MCP-1 level between the groups at any time point.The postoperative changes were similar in the Ex-PRESS and trabeculectomy groups, except for bleb wall density in the anterior-segment OCT image. The postoperative aqueous MCP-1 level had bimodal peaks in both groups.

  18. 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

  19. 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.

  20. Giant congenital melanocytic nevus with developmental dysplasia of bilateral hip: A rare association

    Directory of Open Access Journals (Sweden)

    Sutsungkokla Imchen

    2013-01-01

    Full Text Available 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.

  1. Choroidal Nevus in an Eye with Polypoidal Choroidal Vasculopathy

    Directory of Open Access Journals (Sweden)

    Kazunobu Asao

    2014-12-01

    Full Text Available Purpose: To report an eye with polypoidal choroidal vasculopathy (PCV and a choroidal nevus. Methods: This is an observational case report. Results: A healthy 69-year-old woman was referred to the Osaka University Hospital with a diagnosis of a macular tumor. She complained of having distorted vision in her left eye. The medical history of the patient was unremarkable. At the initial examination, her best-corrected visual acuity (BCVA was 20/20 in both eyes, and the intraocular pressure was 18 mm Hg in both eyes. A slit-lamp examination showed no abnormalities in the anterior segment of both eyes and a fundus examination of the left eye showed a slightly elevated juxtafoveal chorioretinal lesion and polyp-like reddish-orange lesions. The juxtafoveal choroidal lesion was located beneath a choroidal neovascularization (CNV. An optical coherence tomography confirmed CNV with pigment epithelial detachment (PED. Fluorescein angiography showed juxtafoveal hyperfluorescence due to CNV. Indocyanine green angiography demonstrated a branching choroidal vascular network that resembled polypoidal lesions. A fundus autofluorescence showed a mosaic pattern and a slight hyperautofluorescence at the CNV. We diagnosed the patient as having PCV. Aflibercept was injected intravitreally because of her PED. After the injection, PED improved and her visual acuity remained stable during the 12-month follow-up period. Conclusions: In cases of PCV, FAF images are helpful in determining the status of the posterior pole. Intravitreal injections of aflibercept can improve PED associated with CNV, and the BCVA will remain stable for at least 12 months.

  2. Bleb formation is induced by alkaline but not acidic pH in estrogen receptor silenced breast cancer cells.

    Science.gov (United States)

    Khajah, Maitham A; Mathew, Princy M; Alam-Eldin, Nada S; Luqmani, Yunus A

    2015-04-01

    De novo and acquired resistance to endocrine-based therapies in breast cancer occurs in parallel with epithelial to mesenchymal transition (EMT), which is associated with enhanced proliferative and metastatic potential, and poor clinical outcome. We have established several endocrine insensitive breast cancer lines by shRNA-induced depletion of estrogen receptor (ER) by transfection of MCF7 cells. All of these exhibit EMT. We have previously reported that brief exposure of specifically ER- breast cancer cells, to extracellular alkaline pH, results in cell rounding and segregation, and leads to enhanced invasive potential. In this study we describe more detailed morphological changes and compare these with cell exposure to acidic pH. Morphological changes and localization of various molecules critical for cell adhesion and motility, associated with pH effects, were assessed by live cell microscopy, electron microscopy, and immunofluorescence. Exposure of either ER- or ER+ breast cancer cells to extracellular acidic pH did not induce significant changes in morphological appearance. Conversely, brief exposure of specifically ER silenced cells, to alkaline pH, resulted in cell contractolation and formation of bleb-like actin-rich structures which were evenly distributed on the outer membrane. Integrin α2, FAK, and JAM-1 were found in the cytoplasm streaming into the newly formed blebs. These blebs appear to be related to cell polarity and movement. Pre-treatment with cytochalasin-D or inhibitors of Rho or MLCK prevented both contractolation and bleb formation. Our data suggest that the effect of pH on the microenvironment of endocrine resistant breast cancer cells needs to be more extensively investigated. Alkaline, rather than acidic pH, appears to induce dramatic morphological changes, and enhances their invasive capabilities, through re-organization of cortical actin. PMID:25672508

  3. RAMSAY HUNT SYNDROME A CASE REPORT AND REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    Balasubramanian Thiagarajan

    2013-01-01

    Full Text Available This is a case report of a rather rare disorder i.e. Ramsay Hunt syndrome. This is caused by Varicella zoster infections involving geniculate ganglion of facial nerve. This syndrome is manifested by the presence of blebs in the external auditory canal, ear ache, and lower motor neurone type of facial paralysis. This patient had excellent recovery following administration of oral steroids and acyclovir.

  4. Conservative treatment for late-onset bleb leaks after trabeculectomy with mitomycin C in patients with ocular surface disease

    Directory of Open Access Journals (Sweden)

    Sagara H

    2012-08-01

    Full Text Available Hideto Sagara,1,2 Tomohiro Iida,2,3 Kimimori Saito,4 Hiroki Noji,2 Masashi Ogasawara,2 Hiroshi Oyamada21The Marui Eye Clinic, Fukushima, 2Department of Ophthalmology, Fukushima Medical University School of Medicine, Fukushima, 3Tokyo Women's Medical University, Tokyo, 4Matuki Eye Clinic, Fukushima, JapanBackground: Sodium hyaluronate and autologous serum eye drops are used to treat ocular surface disease (OSD and are reported to prevent and treat late-onset bleb leaks following trabeculectomy with mitomycin C. In this study, we evaluated the efficacy of a combination of sodium hyaluronate and autologous serum eye drops and treatment for obstructive meibomian gland dysfunction as a therapy for late-onset bleb leaks after trabeculectomy with mitomycin C.Methods: This was a retrospective, interventional, nonsimultaneous study of 12 subjects (12 eyes of mean age of 64.3 ± 18.3 years with OSD and apparent late-onset bleb leaks following trabeculectomy with mitomycin C between 1998 and 2008. We compared patients diagnosed with leakages before July 2005, who had been treated with separate eye drop solutions containing 0.1% sodium hyaluronate, 50% autologous serum, and 0.3% ofloxacin (sodium hyaluronate and autologous serum group, n = 7, with patients diagnosed from August 2005 to December 2008, who were treated with a combination of eye drops (0.1% sodium hyaluronate, 50% autologous serum, and 0.08% levofloxacin hydrate and eyelid massage and warm compresses for obstructive meibomian gland dysfunction (combination eye drop group, n = 5.Results: Leakage was resolved in one patient (14.3% in the separately treated sodium hyaluronate and autologous serum eye drop group and in five patients (100% in the combination eye drop group (P = 0.015. The period after resolution of leakage with conservative treatment was 23 months in the one eye in the sodium hyaluronate and autologous serum group and 36–61 (mean 52.4 ± 10.1 months in the five eyes in the

  5. 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.

  6. Complete regression of a melanocytic nevus after epilation with diode laser therapy

    OpenAIRE

    Boleira, Manuela; de Almeida Balassiano, Laila Klotz; Jeunon, Thiago

    2015-01-01

    The use of lasers and intense pulsed light (IPL) technology has become an established practice in dermatology and aesthetic medicine. The use of laser therapy and IPL in the treatment of pigmented melanocytic lesions is a controversial issue. We report clinical, dermoscopic and histological changes of a completely regressed pigmented melanocytic nevus after hair removal treatment with the LightSheer™ Diode Laser (Lumenis Ltd, Yokneam, Israel).

  7. Primary Meningeal Melanocytoma in the Left Temporal Lobe Associated with Nevus Ota

    DEFF Research Database (Denmark)

    Samadian, Mohammad; Nejad, Ali Mousavi; Bakhtevari, Mehrdad Hosseinzadeh;

    2015-01-01

    histopathologic grade was benign (WHO grade I), radiotherapy was not advised for the patient and he followed up every 6 months. No tumor was seen on follow-up MRI one year after surgery. CONCLUSION: Presentation of meningeal melanocytoma in the supratentorial compartment is rare, and its combination with nevus...... Ota has been reported in very few cases. Although this lesion is benign, it might behave aggressively. Complete surgical resection of the lesion is the preferred therapeutic option....

  8. In vivo photoacoustic microscopy of human cutaneous microvasculature and a nevus

    OpenAIRE

    Favazza, Christopher P.; Jassim, Omar; Cornelius, Lynn A.; Wang, Lihong V.

    2011-01-01

    In several human volunteers, photoacoustic microscopy (PAM) has been utilized for noninvasive cutaneous imaging of the skin microvasculature and a melanocytic nevus. Microvascular networks in both acral and nonacral skin were imaged, and multiple features within the skin have been identified, including the stratum corneum, epidermal-dermal junction, and subpapillary vascular plexus. Several vascular and structural differences between acral and nonacral skin were also observed in the photoacou...

  9. 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.

  10. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. Nevus Sebaceous and Accompanying Lesions: A Clinicopathologic Review of Seven Patients

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    F. Hüsniye DİLEK et al.

    2010-05-01

    Full Text Available Purpose: Benign lesions are frequently develops in nevus sebaceous, while malignancies mayalso be seen rarely. We aimed to review the pathologies developed from nevus sebaceous in ourpatients. Material and method: Seven patients with nevus sebaceous, whose diagnoses andmanagements had been carried out in our department during the last six years, were reviewed.Diagnoses were verified by the examination of a pathologist. Results: In addition to the seven sebaceous nevi that were five in the scalp and two in the cheek,syringocystadenoma papilliferum in a patient, eccrine spiroadenoma in one patient, and bothsyringocystadenoma papilliferum and tubular apocrine adenoma in a patient were seen. Totalsurgical excision was performed for all patients. No recurrence was noticed in any of the tumorsin the follow-up. Conclusion: Prophylactic excision has been suggested because of the probable neoplastictransformations in elderly. In our series, early excision had been performed in almost all patientsand no malignant transformation was detected. Concerning the neoplastic changes are seenusually at the ages of 40-70 and aesthetically disturbing lesions rise in adolescent period, wesuggest that excision can be delayed to adolescent period.

  13. 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.

  14. Conductive hearing loss in Beckwith-Wiedemann syndrome.

    Science.gov (United States)

    Schick, B; Brors, D; Prescher, A; Draf, W

    1999-05-01

    Beckwith-Wiedemann syndrome is a rare genetic overgrowth syndrome presenting with organomegaly, abdominal wall defects, macroglossia, and postnatal hypoglycemia. Head and neck manifestations of this abnormality include flame nevus of the forehead and characteristic sulci of the ear lobe. We present a 7-year-old child with Beckwith-Wiedemann syndrome and a rare finding of conductive hearing loss on both sides due to congenital malleus and stapedial fixation. Small fenestra stapedotomy and mobilization of malleus fixation in the epitympanum improved the child's hearing. The bony fixation of the malleus and stapes is explained as atavism of the processus anterior mallei and peripheral lamina stapedialis in embryological development. PMID:10375044

  15. Blunt needle revision with viscoelastic materials via the anterior chamber for early failed filtering blebs after trabeculectomy

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    Yamagami H

    2012-06-01

    Full Text Available Nozomi Kinoshita, Ayumi Ota, Fumihiko Toyoda, Hiroko Yamagami, Akihiro KakehashiDepartment of Ophthalmology, Saitama Medical Center, Jichi Medical University, Saitama, JapanPurpose: To report a new technique of blunt needle revision with viscoelastic materials via the anterior chamber for the treatment of early failed filtering blebs and elevated intraocular pressure after trabeculectomy, in which digital ocular massage and laser suture lysis have been ineffective.Methods: A 27-gauge blunt needle attached to a syringe containing viscoelastic material was inserted into the anterior chamber from the inferior paracentesis. The needle tip was inserted into the subscleral flap space from the filtering fistula at the anterior chamber side, and the scleral flap was lifted bluntly. The needle tip was then inserted into the subconjunctival space where the viscoelastic agent was injected and the adhesion between the sclera and conjunctiva was separated bluntly. Blunt needle revision via the anterior chamber was performed 14 times in six eyes of six patients at Saitama Medical Center, Jichi Medical University from January 2007 to May 2009. All procedures were performed within 1 month after trabeculectomy.Results: The intraocular pressure remained 21 mmHg or lower for more than 6 months in three of six eyes. Slight bleeding from the iris occurred in one of the 14 procedures, and hypotony (intraocular pressure below 5 mmHg occurred in one of the 14 procedures. No serious complications developed.Conclusion: Blunt needle revision via the anterior chamber for early failed filtering blebs is a new, simple, and safe procedure.Keywords: glaucoma, trabeculectomy, filtering bleb, needle revision, blunt needle

  16. Imaging of filtering blebs after implantation of the Ex-PRESS shunt with the use of the Visante optical coherence tomography

    Institute of Scientific and Technical Information of China (English)

    Aristeidis; Konstantinidis; Georgios; D; Panos; Magdalini; Triantafylla; Georgios; Labiris; Efthimia; Tsaragli; Zisis; Gatzioufas; Vassilios; Kozobolis

    2015-01-01

    AIM: To analyze the features of the filtering blebs following implantation of the Ex-PRESS glaucoma device(model P-50) with the aid of the Visante anterior segment optical coherence tomography(AS-OCT)METHODS: Five patients with open angle glaucomas were included in the study. They all underwent implantation of the Ex-PRESS device under a scleral flap. The surgical procedure was augmented with the use of mitomycin C subconjunctivally. The filtering blebs were analyzed with the Visante AS-OCT with the scans taken along the axis of the implantation of the glaucoma device.RESULTS: All filtering blebs were graded as diffuse functioning. The morphological characteristics of the blebs were similar to those of the trabeculectomy.However the use of the Ex-PRESS implant tend to form a characteristic episcleral lake at the site of the plate of the implant. CONCLUSION: The use of the Ex-PRESS implant produces filtering blebs similar to those of the trabeculectomy with the formation of a characteristic episcleral lake at the site of the plate of the implant.

  17. Autoantibodies from mice exposed to Libby amphibole asbestos bind SSA/Ro52-enriched apoptotic blebs of murine macrophages

    International Nuclear Information System (INIS)

    Asbestos exposure is associated with increased autoimmune responses in humans. For example, in Libby, MT where significant asbestos exposure has occurred due to an asbestos-contaminated vermiculite mine near the community, residents have developed increased autoimmune responses compared to an unexposed population. However, the exact mechanism by which Libby amphibole asbestos generates autoimmune responses is unclear. A murine model of amphibole asbestos-induced autoimmunity was recently established, and one of the targets of the autoantibodies (AAs) was the SSA/Ro52 autoantigen. The purpose of this study was to determine whether the SSA/Ro52 autoantigen is exposed at the surface of cells as a result of asbestos exposure as a possible mechanism leading to antigenicity. Our results indicate that Libby asbestos induces apoptosis in murine macrophages as determined by phosphatidylserine exposure, cleavage of poly(ADP-ribose) polymerase and morphological changes such as nuclear condensation. Moreover, asbestos-induced apoptosis results in the formation of apoptotic cell surface blebs enriched in SSA/Ro52 as determined by confocal microscopy. Most importantly, apoptotic cell surface blebs are recognized by AAs from mice exposed to amphibole asbestos suggesting that these cell surface structures may be antigenic when presented in a pro-inflammatory context. This study supports the hypothesis that the induction of apoptosis plays a key role in environmentally induced autoimmunity through cell surface exposure of a known autoantigen

  18. The role of "blebbing" in overcoming the hydrophobic barrier during biooxidation of elemental sulfur by Thiobacillus thiooxidans

    Science.gov (United States)

    Knickerbocker, C.; Nordstrom, D.K.; Southam, G.

    2000-01-01

    Brimstone Basin, in southeastern Yellowstone National Park, Wyoming is an ancient hydrothermal area containing solfataric alteration. Drainage waters flowing from Brimstone Basin had pH values as low as 1.23 and contained up to 1.7×106 MPN/ml acidophilic sulfur-oxidizing bacteria. Thiobacillus thiooxidans was the dominant sulfur-oxidizing bacterium recovered from an enrichment culture and was used in a structural examination of bacterial sulfur oxidation. Growth in these sulfur cultures occurred in two phases with cells in association with the macroscopic sulfur grains and in suspension above these grains. Colonization of sulfur grains by individual cells and microcolonies was facilitated by organic material that appeared to be responsible for bacterial adhesion. Transmission electron microscopy of negatively stained (2% [wt./vol.] uranyl acetate), sulfur-grown T. thiooxidans revealed extensive membrane blebbing (sloughing of outer membrane vesicles) and the presence of approximately 100 nm sized sulfur particles adsorbed to membrane material surrounding individual bacteria. Sulfite-grown bacteria did not possess membrane blebs. The amphipathic nature of these outer membrane vesicles appear to be responsible for overcoming the hydrophobic barrier necessary for the growth of T. thiooxidans on elemental sulfur.

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

    Directory of Open Access Journals (Sweden)

    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.

  20. 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.

  1. 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.

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

    Science.gov (United States)

    Sanjeeta, Ngairangbam; Nandini, D B; 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

  3. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  5. 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.

  6. In vivo photoacoustic microscopy of human cutaneous microvasculature and a nevus

    Science.gov (United States)

    Favazza, Christopher P.; Jassim, Omar; Cornelius, Lynn A.; Wang, Lihong V.

    2011-01-01

    In several human volunteers, photoacoustic microscopy (PAM) has been utilized for noninvasive cutaneous imaging of the skin microvasculature and a melanocytic nevus. Microvascular networks in both acral and nonacral skin were imaged, and multiple features within the skin have been identified, including the stratum corneum, epidermal-dermal junction, and subpapillary vascular plexus. Several vascular and structural differences between acral and nonacral skin were also observed in the photoacoustic images. In addition, a nevus was photoacoustically imaged, excised, and histologically analyzed. The photoacoustic images allowed for in vivo measurement of tumor thickness, depth, and microvasculature-values confirmed by histologic examination. The presented images demonstrate the potential of PAM to aid in the study and evaluation of cutaneous microcirculation and analysis of pigmented lesions. Through its ability to three-dimensionally image the structure and function of the microvasculature and pigmented lesions, PAM can have a clinical impact in diagnosis and assessment of systemic diseases that affect the microvasculature such as diabetes and cardiovascular disease, cutaneous malignancies such as melanoma, and potentially other skin disorders.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. Genetic disruption of calpain correlates with loss of membrane blebbing and differential expression of RhoGDI-1, cofilin and tropomyosin

    DEFF Research Database (Denmark)

    Larsen, Anna Karina; Lametsch, Rene; Elce, John S.;

    2008-01-01

    blebbing was significantly reduced in calpain-knockout cells, and genetic rescue fully restored the wild-type phenotype in knockout cells. Proteomic comparison of wild-type and knockout cells identified decreased levels of RhoGDI-1 (Rho GDP-dissociation inhibitor) and cofilin 1, and increased levels...

  9. Myotonic dystrophy protein kinase (DMPK) induces actin cytoskeletal reorganization and apoptotic-like blebbing in lens cells

    Science.gov (United States)

    Jin, S.; Shimizu, M.; Balasubramanyam, A.; Epstein, H. F.

    2000-01-01

    DMPK, the product of the DM locus, is a member of the same family of serine-threonine protein kinases as the Rho-associated enzymes. In DM, membrane inclusions accumulate in lens fiber cells producing cataracts. Overexpression of DMPK in cultured lens epithelial cells led to apoptotic-like blebbing of the plasma membrane and reorganization of the actin cytoskeleton. Enzymatically active DMPK was necessary for both effects; inactive mutant DMPK protein did not produce either effect. Active RhoA but not constitutive GDP-state mutant protein produced similar effects as DMPK. The similar actions of DMPK and RhoA suggest that they may function in the same regulatory network. The observed effects of DMPK may be relevant to the removal of membrane organelles during normal lens differentiation and the retention of intracellular membranes in DM lenses. Copyright 2000 Wiley-Liss, Inc.

  10. Assessment of Filtration Bleb and Endplate Positioning Using Magnetic Resonance Imaging in Eyes Implanted with Long-Tube Glaucoma Drainage Devices.

    Directory of Open Access Journals (Sweden)

    Ichiya Sano

    Full Text Available To evaluate ocular fluid filtration and endplate positioning in glaucomatous eyes with long-tube glaucoma drainage devices (GDDs using magnetic resonance imaging (MRI and the effects of various factors on postoperative intraocular pressure (IOP.This observational case series included 27 consecutive glaucomatous eyes (18 men, 7 women; mean age ± standard error, 63.0±2.0 years who underwent GDD implantation (n = 8 Ahmed Glaucoma Valves [AGV] and n = 19 Baerveldt Glaucoma Implants [BGI]. Tubes were inserted into the pars plana in 23 eyes and anterior chamber in 4 eyes. Six months postoperatively, high-resolution orbital images were obtained using 3-Tesla MRI with head-array coils, and the filtering bleb volume, bleb height, and distances between the anterior endplate edge and corneal center or limbus or between the endplate and orbital wall were measured.In MR images obtained by three-dimensional fast imaging employing steady-state acquisition (3D-FIESTA sequences, the shunt endplate was identified as low-intensity signal, and the filtering bleb was identified as high-intensity signals above and below the endplate in all eyes. The 6-month-postoperative IOP level was correlated negatively with bleb volume (r = -0.4510, P = 0.0182 and bleb height (r = -0.3954, P = 0.0412. The postoperative IOP was significantly (P = 0.0026 lower in BGI-implanted eyes (12.2±0.7 mmHg than AGV-implanted eyes (16.7±1.2 mmHg; bleb volume was significantly (P = 0.0093 larger in BGI-implanted eyes (478.8±84.2 mm3 than AGV-implanted eyes (161.1±52.3 mm3. Other parameters did not differ.The presence of intraorbital/periocular accumulation of ocular fluid affects postoperative IOP levels in eyes implanted with long-tube GDDs. Larger filtering blebs after BGI than AGI implantations explain lower postoperative IOP levels achieved with BGI than AGV. The findings will contribute to better understanding of IOP reducing mechanism of long-tube GDDs.

  11. KLIPPEL TRENAUNAY SYNDROME : A CASE REPORT

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    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.

  12. 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.

  13. 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

  14. Extenso nevo azul intraoral: relato de caso Extensive intraoral blue nevus: case report

    Directory of Open Access Journals (Sweden)

    Thiago de Santana Santos

    2011-08-01

    Full Text Available O nevo é uma má-formação congênita pigmentada, raramente encontrado na mucosa bucal. Cerca de 1/3 dos casos localizados nesta região anatômica são do tipo azul, uma variante histológica com considerável tendência à malignização. Este artigo relata o caso de um paciente do sexo masculino, tabagista crônico, portador de um nevo azul de 5 cm de diâmetro no palato duro. A excisão da lesão sem biópsia prévia foi a conduta terapêutica de eleição para o caso, uma vez que ainda existe controvérsia na literatura a respeito da realização de biópsia incisional em lesões pigmentadas malignas ou com potencial de malignização. O paciente foi acompanhado por um período de 2 anos, sem sinais de recorrência ou transformação malignaNevus is a congenital pigmented malformation rarely found in the oral mucosa. Around one third of cases located in this anatomical region are of the blue type, a histological variant with considerable tendency to malignancy. This study reports the case of a male patient, chronic smoker, with a blue nevus measuring 5cm in diameter on the hard palate. Since controversy exists in the literature regarding the incisional biopsy of pigmented lesions with malignant or malignant potential, excision without previous biopsy of the lesion was the therapy of choice for this case. The patient was followed-up for two years with no sign of recurrence or malignant transformation

  15. Pigmentary Markers in Danes – Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome

    OpenAIRE

    Johansen, Peter; Andersen, Jeppe Dyrberg; Madsen, Linnea Nørgård; Ullum, Henrik; Glud, Martin; Børsting, Claus; Gniadecki, Robert; Morling, Niels

    2016-01-01

    To investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis) contributed to melanoma predisposition, we compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical multiple mole and melanoma (FAMMM) syndrome. We typed 32 pigmentary SNP markers and sequenced MC1R in 246 healthy individuals and 116 individuals attending periodic control for malignant melanoma develop...

  16. PROTEUS SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Farhad HEYDARIAN

    2010-06-01

    Full Text Available ObjectiveProteus Syndrome is an extremely rare, sporadic and progressive disorder. We describe a four-month-old male baby with central nervous system manifestations in this article.Clinical presentationA four-month-old boy was admitted into our hospital with three tonic - clonic generalized seizure attacks which started from the day before admission. Each seizure attack lasted less than 10 minutes and the baby was well between attacks. No fever was detected. On physical examination, abnormal facial features, macrocrania, a wide nasal bridge, overgrowth of the right lower limb, macrodactyly in the third left toe, epidermal nevus on the left side of the abdomen and skin vascular abnormalities were detected. His developmental status was normal. Brain Magnetic Resonance Imaging (MRI revealed left sided hemihypertrophy, ventricle enlargement and macrocrania on the same side.

  17. PROTEUS SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Farhad HEYDARIAN

    2010-07-01

    Full Text Available ObjectiveProteus Syndrome is an extremely rare, sporadic and progressive disorder. We describe a four-month-old male baby with central nervous system manifestations in this article.Clinical presentationA four-month-old boy was admitted into our hospital with three tonic - clonic generalized seizure attacks which started from the day before admission. Each seizure attack lasted less than 10 minutes and the baby was well between attacks. No fever was detected. On physical examination, abnormal facial features, macrocrania, a wide nasal bridge, overgrowth of the right lower limb, macrodactyly in the third left toe, epidermal nevus on the left side of the abdomen and skin vascular abnormalities were detected. His developmental status was normal. Brain Magnetic Resonance Imaging (MRI revealed left sided hemihypertrophy, ventricle enlargement and macrocrania on the same side.Keywords:hemihypertrophy, macrocrania, vascular abnormalities, seizure,hemimegalencephaly

  18. Application of 5-Fluorouracil-Polycaprolactone Sustained-Release Film in Ahmed Glaucoma Valve Implantation Inhibits Postoperative Bleb Scarring in Rabbit Eyes

    OpenAIRE

    Xiu-Zeng Bi; Wei-Hua Pan; Xin-Ping Yu; Zong-Ming Song; Zeng-Jin Ren; Min Sun; Cong-Hui Li; Kai-Hui Nan

    2015-01-01

    This study was designed to investigate whether 5-fluorouracil (5-Fu)-polycaprolactone sustained-release film in Ahmed glaucoma valve implantation inhibits postoperative bleb scarring in rabbit eyes. Eighteen New Zealand white rabbits were randomly divided into three groups (A, B and C; n = 6 per group). Group A received combined 5-Fu-polycaprolactone sustained-release film application and Ahmed glaucoma valve implantation, group B received local infiltration of 5-Fu and Ahmed glaucoma valve i...

  19. Substance P induces rapid and transient membrane blebbing in U373MG cells in a p21-activated kinase-dependent manner.

    Directory of Open Access Journals (Sweden)

    John Meshki

    Full Text Available U373MG astrocytoma cells endogenously express the full-length neurokinin 1 receptor (NK1R. Substance P (SP, the natural ligand for NK1R, triggers rapid and transient membrane blebbing and we report that these morphological changes have different dynamics and intracellular signaling as compared to the changes that we have previously described in HEK293-NK1R cells. In both cell lines, the SP-induced morphological changes are Gq-independent, and they require the Rho, Rho-associated coiled-coil kinase (ROCK signaling pathway. Using confocal microscopy we have demonstrated that tubulin is phosphorylated subsequent to cell stimulation with SP and that tubulin accumulates inside the blebs. Colchicine, a tubulin polymerization inhibitor, blocked SP-induced blebbing in U373MG but not in HEK293-NK1R cells. Although p21-activated kinase (PAK is expressed in both cell lines, SP induced rapid phosphorylation of PAK in U373MG, but failed to phosphorylate PAK in HEK293-NK1R cells. The cell-permeable Rho inhibitor C3 transferase inhibited SP-induced PAK phosphorylation, but the ROCK inhibitor Y27632 had no effect on PAK phosphorylation, suggesting that Rho activates PAK in a ROCK-independent manner. Our study demonstrates that SP triggers rapid changes in cell morphology mediated by distinct intracellular signaling mechanisms in U373MG versus HEK293-NK1R cells.

  20. Mole (Nevus)

    Science.gov (United States)

    ... melanoma). Remember the ABCDEs of melanoma lesions: A - Asymmetry: One half of the lesion does not mirror ... McGraw-Hill, 2003. Last Updated: 23 Jul 2010 Information for other ages: Child Teen Table of Contents: ...

  1. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. 新型CO2激光一次性治疗的疗效比较%Treatment comparison between warts and pigmental nevus by using new-type CO2 laser

    Institute of Scientific and Technical Information of China (English)

    李斌; 马晓冰; 王晓军; 赵红艺; 钱文江

    2002-01-01

    Objective To evaluate curative effect of new type CO2 laser on warts and pigmental nevus treatment.Methods Both of diseases were treated with the same therapy.We evaluated whether there was apparent difference in cure rate and treatment mean impulse times.In this project,there were 78 patients,among which,26 cases suffered two diseases.Results Cure rate of warts was 94.2% and that of pigmental nevus was 73.1% .The former was higher than the latter apparently (P0.1).Conclusion One off cure rate of wart is higher than that of pigmental nevus.

  9. 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

  10. 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.

  11. 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.

  12. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  14. Novel treatment of Hori's nevus: A combination of fractional nonablative 2,940-nm Er:YAG and low-fluence 1,064-nm Q-switched Nd:YAG laser

    OpenAIRE

    Brian Wei Cheng Anthony Tian

    2015-01-01

    Objective: To demonstrate a combination laser therapy to treat Hori′s nevus. Design: A prospective study. Setting: A Singapore-based clinic. Participants: Five female patients, aged 30-46 years, with bilateral malar Hori′s nevus. Measurements: Photographs were taken before treatment and 1 month after laser treatment was completed. These were graded by three independent physicians. The patients were also asked to grade their treatment response subjectively. They were followed up for a total of...

  15. 青光眼术后滤过泡感染及滤过泡相关性眼内炎的临床观察%Clinical observation of filtering bleb infections and filtration bleb-related endophthalmitis after glaucoma surgery

    Institute of Scientific and Technical Information of China (English)

    张蕾; 陶静; 吴雅颖

    2012-01-01

    目的 探讨青光眼术后滤过泡感染及滤过泡眼内炎的危险因素以及临床表现和预后转归.方法 查阅近5年医院行青光眼滤过手术的病历,依据术中是否放置丝裂霉素C(MMC)分为两组,讨论MMC的放置增加滤过泡感染的可能性;并总结医院近5年滤过泡感染及相关性眼内炎的病历,将其分为单纯感染组和眼内炎组,探讨其临床表现、病原学、治疗及临床预后.结果 手术中巩膜下放置抗代谢药物,术后发生滤过泡相关感染的患者为1.36%,而手术中未使用抗代谢药物组为0.44%,两组比较差异有统计学意义(P<0.05),单纯滤过泡感染组治疗前后眼内压分别为(16.25±3.30)、(14.88±3.42) mm Hg,眼内炎组治疗前后眼内压分别为(18.36±14.12)、(15.00±3.12)mm Hg,两组比较差异无统计学意义;在病原学检查方面眼内炎组革兰阴性菌和革兰阳性菌感染的例数分别为8例和7例,而单纯滤过泡感染组则为7例和3例,两组比较差异无统计学意义.结论 术中单次应用抗代谢类药物可以有效提高滤过泡的功能化率,但其与滤过泡相关性感染密切相关,术中慎用.%OBJECTIVE To discuss the risk factors for filtering bleb infections and filtration bleb-related endophthalmitis after glaucoma surgery and the clinical manifestation as well as the prognosis outcomes. METHODS The medical cases with filtering bleb infections who underwent glaucoma surgery in recent 5 years were retrospectively investigated, those participants were divided into two groups according to the intraoperative placing MMC, the possibility of placing MMC in increasing the risk of filtering bleb infections was discussed. The filtering bleb infection cases were divided into the simple infection group and the endophthalmitis group, the clinical manifestations, etiology, treatment, and the clinical prognosis were discussed. RESULTS The incidence of postoperative bleb infections in the non

  16. Photopheresis with UV-A light and 8-methoxypsoralen leads to cell death and to release of blebs with anti-inflammatory phenotype in activated and non-activated lymphocytes

    Energy Technology Data Exchange (ETDEWEB)

    Stadler, K. [Department for Internal Medicine 3, University Hospital Erlangen (Germany); Frey, B. [Department of Radiation Oncology, University Hospital Erlangen, Universitaetsstr. 27, 91054 Erlangen (Germany); Munoz, L.E.; Finzel, S.; Rech, J. [Department for Internal Medicine 3, University Hospital Erlangen (Germany); Fietkau, R. [Department of Radiation Oncology, University Hospital Erlangen, Universitaetsstr. 27, 91054 Erlangen (Germany); Herrmann, M. [Department for Internal Medicine 3, University Hospital Erlangen (Germany); Hueber, A. [Centre for Rheumatic Diseases, University of Glasgow (United Kingdom); Gaipl, U.S., E-mail: udo.gaipl@uk-erlangen.de [Department of Radiation Oncology, University Hospital Erlangen, Universitaetsstr. 27, 91054 Erlangen (Germany)

    2009-08-14

    Background: Extracorporeal photopheresis is a therapy for treatment of autoimmune diseases, cutaneous T-cell lymphoma, organ graft rejection as well as graft-versus-host diseases. The exact mechanism how the combination of 8-methoxypsoralen plus UV-A irradiation (PUVA) acts is still unclear. We investigated the cell death of activated and non-activated lymphocytes after PUVA treatment as well as the rate of released blebs and their antigen composition. Results: In presence of 8-MOP, UV-A light highly significantly increased the cell death of activated lymphocytes. The same was observed to a lesser extent in non-activated cells. Blebs derived from activated lymphocytes after PUVA treatment showed the highest surface exposition of phosphatidylserine. These blebs also displayed a high exposure of the antigens CD5 and CD8 as well as a low exposure of CD28 and CD86. Conclusion: PUVA treatment exerts anti-inflammatory effects by inducing apoptosis and apoptotic cell-derived blebs with immune suppressive surface composition.

  17. Cooperative anti-invasive effect of Cdc42/Rac1 activation and ROCK inhibition in SW620 colorectal cancer cells with elevated blebbing activity.

    Directory of Open Access Journals (Sweden)

    Marion de Toledo

    Full Text Available Rho GTPases are key regulators of tumour cell invasion and therefore constitute attractive targets for the design of anticancer agents. Several strategies have been developed to modulate their increased activities during cancer progression. Interestingly, none of these approaches took into account the existence of the well-known antagonistic relationship between RhoA and Rac1. In this study, we first compared the invasiveness of a collection of colorectal cancer cell lines with their RhoA, Rac1 and Cdc42 activities. A marked decrease of active Cdc42 and Rac1 correlated with the high invasive potential of the cell lines established from metastatic sites of colorectal adenocarcinoma (LoVo, SKCo1, SW620 and CoLo205. Conversely, no correlation between RhoA activity and invasiveness was detected, whereas the activity of its kinase effector ROCK was higher in cancer cell lines with a more invasive phenotype. In addition, invasiveness in these colon cancer cell lines was correlated with a typical round and blebbing morphology. We then tested whether treatment with PDGF to restore Cdc42 and Rac1 activities and/or with Y27632, a chemical inhibitor of ROCK, could decrease the invasiveness of SW620 cells. The association of both treatments substantially decreased the invasive potential of SW620 cells and this effect was accompanied by loss of membrane blebbing, restoration of a more elongated cell morphology and re-establishment of E-cadherin-dependent adherens junctions. This study paves the road to the development of therapeutic strategies in which different Rho GTPase modulators are combined to modulate the cross-talk between Rho GTPases and their specific input in metastatic progression.

  18. Detection of blebs and bullae in patients with primary spontaneous pneumothorax by multi-detector CT reconstruction using different slice thicknesses

    International Nuclear Information System (INIS)

    The aim of this study was to compare the diagnostic performances of multi-detector computed tomography (MDCT) reconstruction at two different slice thicknesses (1mm, 'high resolution' vs. 5mm, 'routine') with respect to the detection of blebs and bullae (BBs) in patients with primary spontaneous pneumothorax (PSP). Thirty-one patients underwent wedge resection of BBs (29 unilateral and 2 bilateral) for PSP from January 2010 to January 2013. Two observers assessed the presence and locations of BBs independently using high-resolution CT (HRCT) and routine CT reconstruction, and compared the sensitivities of each reconstruction method for BB detection using operative findings as a standard reference. In addition, the number of BBs in each CT image set was recorded and inter-observer agreements were evaluated. Sensitivity for the detection of BBs was significantly better for HRCT than routine CT (97.0% vs. 63.6% for observer 1 and 94.0% vs. 57.6% for observer 2, respectively, both P-values<0.001). On a per-bleb and a per-bulla basis, inter-observer agreements regarding BBs by HRCT were good and very good (k=0.66 and 0.94, respectively) and superior to those determined by routine CT (k=0.59 and 0.60, respectively). Different slice thickness reconstructions influence the diagnostic efficacy of MDCT for the detection of BBs in patients with PSP. High-resolution thin slice CT reconstruction was found to have a significantly greater sensitivity than routine thicker slice thickness reconstruction for the detection of BBs.

  19. CT findings for blebs and bullae in children with spontaneous pneumothorax and comparison with findings in normal age-matched controls

    International Nuclear Information System (INIS)

    Spontaneous pneumothorax (SPTX) is a relatively common condition. In patients with SPTX, CT has been advocated to identify blebs and bullae (BB) to help in management planning. The study was designed to assess our experience with CT evaluation for underlying BB in children with SPTX as compared to normal controls. Forty-three children (mean age 16 years, range 13-19 years) with 50 SPTX events with both chest radiographs and CT scans were reviewed. CT findings were compared with those seen in 29 age- and gender-matched controls without SPTX. The parameters evaluated included size, number, location, and ipsi-/contralateral BB; apical lines; and surgical correlation. In the study group, BB were identified in 14 imaged events (28%) (size 2.5-45 mm, one to six BB) with contralateral BB in 11 of the 14 (78.6%). All BB were confined to the apices. BB were sometimes difficult to differentiate from ''apical lines'' - a suspected normal variant seen in 28 imaged events (56%). Of blebs seen at surgery, 59% were identified on CT, and there were no false-positive CT findings. In the control group, no BB were identified but ''apical lines'' were seen in eight children (28%). BB were seen by CT in 28% of imaged events in children with SPTX and were always confined to the apices. When present, BB were commonly bilateral (78.6%). BB should not be confused with ''apical lines,'' which were not only seen in 56% of imaged events in the SPTX group but also in 28% of the normal controls. (orig.)

  20. CT findings for blebs and bullae in children with spontaneous pneumothorax and comparison with findings in normal age-matched controls

    Energy Technology Data Exchange (ETDEWEB)

    Guimaraes, Carolina V.A.; Donnelly, Lane F. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Warner, Brad W. [Cincinnati Children' s Hospital Medical Center, Department of Surgery, Cincinnati, OH (United States)

    2007-09-15

    Spontaneous pneumothorax (SPTX) is a relatively common condition. In patients with SPTX, CT has been advocated to identify blebs and bullae (BB) to help in management planning. The study was designed to assess our experience with CT evaluation for underlying BB in children with SPTX as compared to normal controls. Forty-three children (mean age 16 years, range 13-19 years) with 50 SPTX events with both chest radiographs and CT scans were reviewed. CT findings were compared with those seen in 29 age- and gender-matched controls without SPTX. The parameters evaluated included size, number, location, and ipsi-/contralateral BB; apical lines; and surgical correlation. In the study group, BB were identified in 14 imaged events (28%) (size 2.5-45 mm, one to six BB) with contralateral BB in 11 of the 14 (78.6%). All BB were confined to the apices. BB were sometimes difficult to differentiate from ''apical lines'' - a suspected normal variant seen in 28 imaged events (56%). Of blebs seen at surgery, 59% were identified on CT, and there were no false-positive CT findings. In the control group, no BB were identified but ''apical lines'' were seen in eight children (28%). BB were seen by CT in 28% of imaged events in children with SPTX and were always confined to the apices. When present, BB were commonly bilateral (78.6%). BB should not be confused with ''apical lines,'' which were not only seen in 56% of imaged events in the SPTX group but also in 28% of the normal controls. (orig.)

  1. 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.

  2. Marshall-White综合征并发蜘蛛痣%Marshall-White syndrome associated with spider nevus: a case report

    Institute of Scientific and Technical Information of China (English)

    陆原; 翁翊; 李清; 何雯; 金丽

    2010-01-01

    报告1例Marshall-White综合征并发蜘蛛痣.患者女,22岁.3年前右上肢出现色素减退斑,直径0.2~2.0 cm,下垂、按压或屈曲肢体时色素减退斑更加明显,平卧或抬高患肢至心脏水平时消退,半年前右上肢又出现多枚蜘蛛痣.

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

    Directory of Open Access Journals (Sweden)

    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.

  4. 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

    Directory of Open Access Journals (Sweden)

    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.

  5. Vitiligo Coexistent with Nevus Depigmentosus: This Was Treated with Narrow-Band UVB and These Lesions Were Followed Using the Mexameter®, a Pigment-Measuring Device

    OpenAIRE

    Hwang, Seon-Wook; Kang, Ju-Hyun; Jung, So-Young; Choi, Joon-Hee; Seo, Jong-Keun; Lee, Deborah; Sung, Ho-Suk

    2010-01-01

    Nevus depigmentosus (ND) is a congenital, non-progressive, hypopigmented lesion that is usually stable throughout an affected individual's lifetime. The clinical features of vitiligo are similar to those of ND, but the two diseases have different treatment responses and prognoses. We report here on a rare case of vitiligo that was coexistent with ND. Both conditions were treated with narrow-band UVB. An 11-year-old boy presented with two distinct types of hypopigmented lesions, one on the for...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. 1064 nm Q switched Nd: YAG laser treatment of nevus of Ota: An Indian open label prospective study of 50 patients

    Directory of Open Access Journals (Sweden)

    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.

  9. 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。

  10. Beals Syndrome

    Science.gov (United States)

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  11. Mosaic Neurocutaneous Disorders and Their Causes.

    Science.gov (United States)

    Ruggieri, Martino; Praticò, Andrea D

    2015-12-01

    Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. In some neurocutaneous syndromes the abnormal mosaic patterning involve mainly the skin and the nervous system configuring a (true) mosaic neurocutaneous disorder; or an ordinary trait of a neurocutaneous disorder is sometimes superimposed by a pronounced linear or otherwise segmental involvement; or, lastly, a neurocutaneous disorder can occur solely in a mosaic pattern. Recently, the molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades (eg, RAS, MAPK, mTOR, PI3K/AKT and GNAQ pathways), which are often responsible of the mosaic distribution of cutaneous and extra-cutaneous features. In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; microcephaly/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito

  12. 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

  13. 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 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. PMID:26777390

  14. 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.

  15. Wortmannin induces MCF-7 breast cancer cell death via the apoptotic pathway, involving chromatin condensation, generation of reactive oxygen species, and membrane blebbing

    Directory of Open Access Journals (Sweden)

    Akter R

    2012-07-01

    Full Text Available Rozina Akter,1 Md. Zakir Hossain,2 Maurice G Kleve,3 Michael A Gealt31Applied Biosciences Emphasis, Department of Applied Science, 2Graduate Institute of Technology, 3Department of Biology, College of Science and of Mathematics, University Arkansas at Little Rock, Little Rock, AR, USABackground: Apoptosis can be used as a reliable marker for evaluating potential chemotherapeutic agents. Because wortmannin is a microbial steroidal metabolite, it specifically inhibits the phosphatidyl inositol 3-kinase pathway, and could be used as a promising apoptosis-based therapeutic agent in the treatment of cancer. The objective of this study was to investigate the biomolecular mechanisms involved in wortmannin-induced cell death of breast cancer-derived MCF-7 cells.Methods and results: Our experimental results demonstrate that wortmannin has strong apoptotic effects through a combination of different actions, including reduction of cell viability in a dose-dependent manner, inhibition of proliferation, and enhanced generation of intracellular reactive oxygen species.Conclusion: Our findings suggest that wortmannin induces MCF-7 cell death via a programmed pathway showing chromatin condensation, nuclear fragmentation, reactive oxygen species, and membrane blebbing, which are characteristics typical of apoptosis.Keywords: wortmannin, human breast adenocarcinoma, apoptosis, reactive oxygen species, flow cytometry

  16. 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.

  17. 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.

  18. Auriculotemporal Syndrome (Frey Syndrome).

    Science.gov (United States)

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  19. 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.

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

    OpenAIRE

    Roberto Rheingantz da Cunha Filho; Hiram Larangeira de Almeida Jr.; André Cartell

    2006-01-01

    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 o...

  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. 色素痣分次切除术治疗疗效观察%Observing the therapeutic effect of pigmented nevus by several sessions of surgical therapy

    Institute of Scientific and Technical Information of China (English)

    张仕涛; 赵涛; 赵建红; 廖文俊

    2011-01-01

    Objective To discuss the therapeutic effect of pigmented nevus by several sessions of surgical therapy.Methods According to the positions, sizes and cosmetic demands of pigmented nevus, adopt the method of resection and suturing by several sessions to resect 378 impairments of 351 patients respectively. Results After several sessions of surgical therapy, the appearance remains almost normal, no infection, no relapse, no distortion of neighboring organs,and the whole effect is comparatively good. Conclusion The several sessions of surgical therapy has the common adaptability in clinical practice and the good result in cosmetic, it is worth to pursue.%目的:探讨分次切除色素痣的临床效果.方法:根据痣的部位,大小及美容要求,采用分次手术的方法切除351例患者的378个皮损.结果:色素痣分次切除术后外观基本正常,均无感染、无复发、周围器官无牵拉变形,总体效果良好.结论:分次切除治疗色素痣具有临床应用的普及性和良好美容结果,值得临床推广.

  3. Bi Syndrome (Arthralgia Syndrome)

    Institute of Scientific and Technical Information of China (English)

    ZHANG En-qin

    2010-01-01

    @@ The word 'Bi' (痹) in Chinese means an obstruction.Bi Syndrome refers the syndrome characterized by the obstruction of qi and blood in the meridians due to the invasion of external pathogenic wind, cold and dampness, manifested as soreness, pain, numbness,heavy sensation, swelling of joints and limbs, limitation of movements and so on.

  4. 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.

  5. 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, ...

  6. 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.

  7. Periodontal manifestations and treatment of Sturge-Weber syndrome--report of two cases.

    Science.gov (United States)

    Huang, J S; Chen, C C; Wu, Y M; Ho, K Y; Wang, C C; Ho, Y P; Liu, C S; Wang, Y P

    1997-02-01

    Encephalotrigeminal angiomatosis (Sturge-Weber syndrome) is a rather uncommon congenital condition characterized by the combination of venous angioma of the leptomeninges over the cerebral cortex with ipsilateral angiomatous lesions of the face and sometimes, the skull, jaws and oral soft tissues. Two patients came to the Kaohsiung Medical College Hospital's dental clinic with complaints of localized gingival enlargement or tumor-like swelling. Based on the presence of facial nevus flammeus, examinations of angiography, radiological evidence of calcific densities, and ipsilaterally intraoral vascular hyperplasia in the lip, cheek and gingiva, encephalotrigeminal angiomatosis was diagnosed. Dental management included plaque control instructions, scaling, root planing and periodontal surgery. Recurrence of gingival enlargement in both cases was noted, so periodontal surgery was performed a second time. Close follow up and complete plaque control have kept the periodontal condition fairly well under control in these two cases. We introduce the oral manifestations and the experience of treatments in these two cases.

  8. 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.)

  9. Novel treatment of Hori′s nevus: A combination of fractional nonablative 2,940-nm Er:YAG and low-fluence 1,064-nm Q-switched Nd:YAG laser

    Directory of Open Access Journals (Sweden)

    Brian Wei Cheng Anthony Tian

    2015-01-01

    Full Text Available Objective: To demonstrate a combination laser therapy to treat Hori′s nevus. Design: A prospective study. Setting: A Singapore-based clinic. Participants: Five female patients, aged 30-46 years, with bilateral malar Hori′s nevus. Measurements: Photographs were taken before treatment and 1 month after laser treatment was completed. These were graded by three independent physicians. The patients were also asked to grade their treatment response subjectively. They were followed up for a total of 3 months after laser treatment to monitor recurrence. Materials and Methods: The fractional nonablative 2,940-nm Er:YAG laser with a fluence of 0.7 J/cm 2, spot size 12 mm, and frequency 15 Hz was used to perform a full-face single-pass treatment. Subsequently, a second pass and third pass over Hori′s nevi were done bilaterally till the clinical endpoint of skin whitening. The 1,064-nm Q-switched (QS Nd:YAG at a fluence of 2.0 J/cm 2 , frequency 2 Hz, and 4-mm spot size was used to deliver multiple passes over Hori′s nevus till erythema with mild petechiae appeared. We repeated the treatment once a week for 3 more consecutive weeks. Results: All five patients had above 80% improvement in their pigmentation and two (skin type III achieved complete 100% clearance. Based on the patients′ subjective assessments, all five of them expressed satisfaction and felt that their pigmentation had improved. There were no complications noted. Conclusion: The fractional nonablative 2940 nm Er:YAG laser and Q-switched 1064nm laser Nd:YAG combination is an effective and safe treatment for Hori′s nevus.

  10. 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 ...

  11. 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 ...

  12. Cushing's Syndrome

    Science.gov (United States)

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  13. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  14. National Down Syndrome Society

    Science.gov (United States)

    ... info@ndss.org Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... More » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  15. Learning about Marfan Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Marfan Syndrome What is Marfan syndrome? What are the ... Syndrome Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most ...

  16. Atypical Mole (Atypical Nevus)

    Science.gov (United States)

    ... melanoma). Remember the ABCDEs of melanoma lesions: A - Asymmetry: One half of the lesion does not mirror ... York: Mosby, 2003. Last Updated: 22 Dec 2008 Information for other ages: Child Teen Table of Contents: ...

  17. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn;

    2015-01-01

    % versus 44% required unplanned additional surgery, respectively. Complications were noted in 25% and 67% of the patients, respectively. Cosmetic result was satisfying in 76% of patients without difference between the groups. No malignant transformation was found during a mean follow-up of 11 years......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......, and malignant transformation. Of 35 patients, 25 underwent surgery. Curettage was most frequently used (64%) followed by excision and tissue expansion (20%). Six percent of the patients treated with curettage, and 78% of the patients who received excision surgery required more than 1 planned procedure, and 25...

  18. Dumping Syndrome

    Science.gov (United States)

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  19. 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

  20. 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.

  1. 26例抗青光眼术后巨大薄壁囊状滤过泡患者行结膜瓣加固术的护理%Nursing experience of 26 glaucoma patients with huge thin-wall cystic filtering bleb conjunctival flap reinforcement after operation

    Institute of Scientific and Technical Information of China (English)

    于立红

    2010-01-01

    目的 探讨巨大薄壁囊状滤过泡结膜瓣加固术患者的护理方法.方法 对26例抗青光眼术后巨大薄壁囊状滤过泡患者实行结膜瓣加固术,术前对患者进行有针对性的心理护理及术前准备;术后及时做好眼压升高、浅前房等并发症的护理;做好健康宣教,提高患者对薄壁滤过泡的自我保护意识.结果 4只眼黄斑水肿消退,14只眼滤过泡渗漏消失,1只眼滤过泡感染控制.结论 结膜瓣加固术是治疗抗青光眼术后巨大薄壁囊状滤过泡的有效方法,加强患者术前、术后的心理护理,术后密切观察并处理并发症,加强患者的自我保护意识可提高手术成功率.%Objective To explore the nursing method of glaucoma patients with huge thin-wall cystic filtering bleb conjunctival flap reinforcement after operation. Methods twenty-six glaucoma surgery patients with thin-wall cystic filtering bleb conjunctival flap reinforcement. Preoperative nursing mainly targeted psychological nursing and preoperative preparation, Postoperative nursing mainly focused on timely elevating iop and preventing shallow anterior complications, improving patients' self-protected consciousness to thin filtering bleb ego. Results Four eye macular edema dismished, 14 eye filtering bleb leaking disappeared, 1 eye filtering bleb infection controlled. Conclusions Conjunctival flap reinforcement treatment with glaucoma surgery is thinwalled huge cystic filtering bleb. Strengthening the effective method of preoperative and postoperative psychological nursing, postoperative complications, close observation, and self-protection can improve the success rate of operation.

  2. 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.

  3. 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。

  4. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are ho...

  5. 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

  6. 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.

  7. Sweet Syndrome

    OpenAIRE

    Kasapçopur, Özgür; Sever, Lale; Çalışkan, Salim; Kodakoğlu, Ramazan; Mat, Cem; Kaner, Gültekin; Arısoy, Nil

    1996-01-01

    Sweet syndrome is a vasculitis characterized with fever leucocytosis neutrophilia and dermal neutrophilic infiltration In children Sweet syndrome usually occurs with secondary to infection and in adults to malignancy We report a Sweet syndrome in a five years old girl with respiratory infections otitis dactylitis long lasting fever and cutaneous rash A neutrophilic dermal infiltration is noted in cutaneous biopsy These signs have disappeared with corticosteroid treatment In conclusion Sweet s...

  8. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-03-01

    Full Text Available Brugada syndrome is characterized by sudden death associated with one of several ECG patterns including incomplete right bundle-branch block and ST-segment elevation in the anterior precordial leads. According to the ECG patterns there are three types of Brugada syndrome. Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases. Nowadays implantation of cardioverter-defibrillator is the only proven method of sudden cardiac death prevention.

  9. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... How Can I Help a Friend Who Cuts? Marfan Syndrome KidsHealth > For Teens > Marfan Syndrome Print A ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, ...

  10. What Is Down Syndrome?

    Science.gov (United States)

    ... NDSS Home » Down Syndrome » What Is Down Syndrome? What Is Down Syndrome? In every cell in the ... chromosome 21 causes the characteristics of Down syndrome. What Causes Down Syndrome? Regardless of the type of ...

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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....

  17. 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 ...

  18. Bloom's Syndrome

    Science.gov (United States)

    ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ...

  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. 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.

  1. 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.

  2. 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.

  3. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  4. Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjeev K. Digra, Deep Aman Singh, Vikram Gupta, Ghanshyam Saini

    2004-10-01

    Full Text Available We report a 11 year old boy and his father both Noonan’s. Noonan syndrome occurs in 1 out of 2000live births. Short stature, webbing of neck, pectus carinatum or pectus excavatum, hypertelorismcubitus valgus, epicanthus, downward slanted palpebral fissures, ptosis, microganthia and earabnormalities are the common features of Noonan syndrome.

  5. Kounis syndrome.

    Science.gov (United States)

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  6. 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.

  7. 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

  8. 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.

  9. 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。

  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. An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report

    Directory of Open Access Journals (Sweden)

    Thacker Purujit J

    2011-07-01

    Full Text Available Abstract Introduction Congenital melanocytic nevi are among the several known risk factors for the development of melanoma. Neurocutaneous melanosis is a rare, congenital, non-hereditary disorder characterized by the presence of multiple and/or giant congenital melanocytic nevi. It is a rare condition, with fewer than 200 cases reported in the literature. Its association with tuberous sclerosis complex, a form of the neurocutaneous syndrome, is an unusual finding which, to the best of our knowledge, has not been documented in the English literature so far. Herein we present the first case documenting such an association in a 16-year-old post-pubertal Indian girl. Case presentation In this report, we describe the case of a 16-year-old Indian girl who presented to our hospital with swelling on the scalp which had progressed from the hairline to just above the left brow, causing mechanical ptosis. She was born with a black-pigmented triangular patch covered with hair over the scalp which had increased in size over a period of eight years after birth. An X-ray of her skull and ultrasonography revealed soft tissue swelling in the left temporofrontoparietal region. Magnetic resonance imaging of her brain showed the presence of 8.99 cm × 2.26 cm abnormal signal intensity involving the scalp, a few small tubers with cortical dysplasia in the left frontoparietal region with asymmetric dilatation, and the presence of calcified subependymal nodules within the left lateral ventricle. These findings were suggestive of tuberous sclerosis. A histopathological examination of the swelling was suggestive of congenital melanocytic nevi. The patient underwent surgery. Excision of the tumor with primary skin grafting was done, with the graft being taken from the medial aspect of the right thigh. Conclusion This case warrants further research to provide concrete evidence of an association of neurocutaneous melanoma with tuberous sclerosis complex. Research should be

  12. 5%复方利多卡因乳膏在面部激光去痣美容术中的应用%5%Compound Lidocaine Cream Application on Facial Laser Freckle Nevus Cosmetic Surgery

    Institute of Scientific and Technical Information of China (English)

    黄登会; 杨晓莹

    2014-01-01

    目的:探讨一种可减轻面部激光去痣美容术患者治疗疼痛的方法。方法:选取2013年1月-3月在我院皮肤科美容治疗中心的符合纳入标准的面部激光去痣美容术患者80例,随机均分为对照组和试验组,对照组采用局部注射麻醉,完成术前准备后进行激光去痣治疗。试验组在对照组方法的基础上,去脂、碱化皮肤,进行激光去痣治疗前局部皮肤擦涂5%复方利多卡因乳膏,然后进行去痣治疗。对比观察分析两组局部皮肤反应、无痛率;视觉类比量表(visual ana2logue scale,VAS)及语言评价量表(verbal ratingscale,VRS)评分值等多项指标。结果:两组治疗部位皮肤在用药后无显著差异,均未出现苍白、红斑、水肿等局部皮肤反应;但两组VAS、VRS值比较有明显差异(P<0.05),对照组有6例患者表示无痛,无痛率仅为15%,试验组高达97.5%。结论:5%复方利多卡因乳膏应用于激光面部去痣美容术能有效消除病人的治疗疼痛,操作方便,成本经济实惠,具有可行性,值得推广应用。%Objective:To explore the method of releasing the pain of facial laser freckle nevus cosmetic surgery. Methods:Selecting 80 cases undergoing facial laser freckle nevus cosmetic surgery in the Sin Beauty Treatment Center in the hospital from January to March, 2013, and randomly dividing them into the control group and the experimental group. The control group was treated with local anesthetic injection, and with facial laser freckle nevus cosmetic surgery. The experimental group was added with 5% compound lidocaine, and then with freckle nevus surgery. Comparative observation analysis of local skin reactions, painless rate; VAS and VRS score values and so on in the two groups were observed and compared. Results:There was no significant difference between the two groups, they all did not appear pale, erythema, edema and local skin reactions. But

  13. [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.

  14. Gardner Syndrome

    Science.gov (United States)

    ... syndromes. For more information, talk with an assisted reproduction specialist at a fertility clinic. How common is ... detected X-ray or computed tomography (CT or CAT) scan of the small bowel if adenomas are ...

  15. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  16. Piriformis syndrome

    Science.gov (United States)

    ... Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... medical help immediately if: You have sudden severe pain in your lower back or legs, along with muscle weakness or numbness ...

  17. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  18. Pendred Syndrome

    Science.gov (United States)

    ... Health & Human Services National Institutes of Health Search Search form Search A–Z Index Español Menu Home ... children, the thyroid is important for normal growth and development. Children with Pendred syndrome, however, rarely have problems ...

  19. [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.

  20. Turner Syndrome

    OpenAIRE

    Ramachandran Sudarshan; G Sree Vijayabala; KS Prem Kumar

    2012-01-01

    Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate th...

  1. Pendred's syndrome

    International Nuclear Information System (INIS)

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  2. Burning Mouth Syndrome

    Science.gov (United States)

    ... OralHealth > Topics > Burning Mouth Syndrome > Burning Mouth Syndrome Burning Mouth Syndrome Main Content Key Points Symptoms Diagnosis Primary and Secondary BMS Treatment Helpful Tips Key Points Burning mouth syndrome is burning pain in the mouth that may ...

  3. Learning about Down Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... Down syndrome? People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and ...

  4. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ...

  5. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Turner Syndrome: Other FAQs Skip sharing on social media links ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  6. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  7. Antiphospholipid syndrome.

    Science.gov (United States)

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  8. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  9. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  10. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  11. 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.

  12. 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.

  13. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    -to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato......Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right...

  14. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  15. Rapunzel syndrome

    International Nuclear Information System (INIS)

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  16. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  17. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  18. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  19. Eagle syndrome

    International Nuclear Information System (INIS)

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  20. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  1. Morbihan syndrome.

    Science.gov (United States)

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-04-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).

  2. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  3. Burnout syndrome

    OpenAIRE

    Bábská, Simona

    2014-01-01

    This bachelor thesis deals with the so-called burnout syndrome, which, as I believe, is getting to be a serious problem in today´s busy world. This issue deserves a full attention especially from those concerned – workers in assisting professions. What usually precedes the burnout syndrome is a big enthusiasm and motivation for work in which a potential patient can help other people and get them out of their troubles, sometimes he /she feels even like having a mission. However, without kno...

  4. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    J.C. Vis; K. van Engelen; J. Timmermans; B.C. Hamel; B.J.M. Mulder

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Althou

  5. Correlation between the bleb morphology and the 24-hour intraocular pressure (IOP) following trabeculectomy in the early postoperative outcomes of primary angle-closure glaucoma (PACG)%原发性闭角型青光眼小梁切除早期滤过泡形态与24h眼压关系

    Institute of Scientific and Technical Information of China (English)

    贾超; 翟刚; 解聪

    2012-01-01

    目的 观察原发性闭角型青光眼小梁切除术后1个月时结膜滤过泡形态与术后24h眼压(IOP)的关系.方法 对46例施行小梁切除术的原发性闭角型青光眼患者进行随访观察.采用IBAGS滤过泡分级系统(Indiana Bleb Grading Scale,IBAGS)对术后1个月的滤过泡进行记录,应用Goldmann压平眼压计进行眼压测量.采用线性回归分析方法检验滤过泡与24 h眼压的关系,采用t检验的方法对有无微囊结构滤过泡的24 h眼压进行比较.结果 线性回归分析显示滤过泡高度(H)每增加1分术后24 h眼压波动值将降低0.60 mm Hg(95%可信区间为-1.183~-0.024),滤过泡范围(E)每增加1分术后24 h眼压波动值将降低0.66 mm Hg(95%可信区间为-1.193~-0.122),滤过泡面积(即大小H+E)每增加1分术后24 h眼压波动值将降低0.43 mm Hg(95%可信区间为-0.756~-0.109),术后具有微囊结构的滤过泡其眼压波动范围较无微囊结构者平均降低1.02 mm Hg(95%可信区间为-1.876~-0.156).具有微囊特征滤过泡的患者上午10点的IOP、24h IOP平均值、波动值、24 h IOP 最大值及最小值均较无微囊者为理想(P值分别为0.0058、0.0039、0.0019、0.0014、0.0211.),差异有统计学意义.所有患者中仅有一例发生滤过泡渗漏.结论 滤过泡形态与术后24 h眼压具有一定的相关性.滤过泡的高度,范围及面积对术后24 h眼压的影响最明显.同时具有微囊结构滤过泡的病例术后24 h眼压控制良好.%Objective To observe the correlation of the morphologic appearance of blebs after trabeculectomy in the first postoperative month with the outcome of 24-hour IOP among patients with PACG after trabeculectomy.Methods A total of 46 patients of PACG were included for the analysis after trabeculectomy.The bleb morphology in the first month after trabeculectomy was graded with the Indian Bleb Appearance Grading Scale based on standard photos.IOP were measured by Goldmann

  6. Marfan syndrome masked by Down syndrome?

    OpenAIRE

    Mulder, B. J.; van Engelen, K.; Vis, J.C.; Timmermans, J.; Hamel, B C J

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;1...

  7. Metabolic Syndrome

    Science.gov (United States)

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  8. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  9. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  10. Tourette Syndrome

    Science.gov (United States)

    ... writing, painting, or making music help focus the mind on other things. There's speculation that the composer Mozart had TS. Find support. The Tourette Syndrome Association sponsors support groups with others who understand the challenges of TS. Take control. People with TS can feel more in control ...

  11. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  12. Usher Syndrome

    Science.gov (United States)

    ... of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. ... type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants ...

  13. Robinow Syndrome

    Directory of Open Access Journals (Sweden)

    Gökhan Gökalp

    2010-05-01

    Full Text Available Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra, costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia. It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome.Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion.Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings. (Journal of Current Pediatrics 2010; 8: 44-7

  14. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  15. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are High blood pressure High blood glucose, or blood sugar, levels High levels of triglycerides, a type of fat, in your blood Low ...

  16. [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. PMID:27088791

  17. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  18. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  19. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  20. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  1. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  2. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  3. Marfan syndrome.

    OpenAIRE

    Jain, Eesha; Pandey, Ramesh Kumar

    1997-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ sy...

  4. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  5. Waardenburg syndrome

    OpenAIRE

    Tagra Sunita; Talwar Amrita; Walia Rattan Lal; Sidhu Puneet

    2006-01-01

    Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features ...

  6. Turner Syndrome

    OpenAIRE

    Akcan AB.

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includ...

  7. Robinow Syndrome

    OpenAIRE

    Gökhan Gökalp; Erdal Eren; Zeynep Yazıcı; Halil Sağlam

    2010-01-01

    Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic si...

  8. Apert's Syndrome

    OpenAIRE

    Kumar, Gudipaneni Ravi; Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite...

  9. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  10. Asperger syndrome

    OpenAIRE

    Woodbury-Smith, Marc R.; Volkmar, Fred R.

    2008-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  11. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Rachel Bastiaenen

    2011-12-01

    Full Text Available The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers of arrhythmic events is advancing rapidly alongside sequencing technologies. We expect that the future will include risk stratification according to genotype and management tailored to the genetic diagnosis.

  12. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  13. Reye syndrome - resources

    Science.gov (United States)

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  14. Narcotic Bowel Syndrome

    Science.gov (United States)

    ... Intolerance Malabsorption Narcotic Bowel Syndrome Radiation Therapy Injury Short Bowel Syndrome Symptoms & Causes Treatments Nutrition and Diet Managing Secondary Effects Medications Surgery Daily Living with SBS Resources SMA Syndrome Volvulus ...

  15. Iliotibial band syndrome - aftercare

    Science.gov (United States)

    IT band syndrome - aftercare; Iliotibial band friction syndrome - aftercare ... If you have iliotibial band syndrome you may notice: Mild pain on the outside of your knee when you begin to exercise, which goes ...

  16. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  17. Central Pain Syndrome

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  18. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  19. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  20. Correlação entre os achados à biomicroscopia ultra-sônica de bolhas filtrantes, com ou sem mitomicina C, e a pressão intra-ocular The correlation between ultrasound biomicroscopy of filtering blebs, with or without mitomycin C, and intraocular pressure

    Directory of Open Access Journals (Sweden)

    Italo Mundialino Marcon

    2000-02-01

    Full Text Available Objetivo: Avaliar, pela biomicroscopia ultra-sônica (UBM, a presença ou não de bolhas filtrantes antiglaucomatosas, observando sua cavidade, e suas diferenças no diâmetro, altura e espessura da parede, em olhos submetidos à cirurgia de trabeculectomia, com ou sem o uso de mitomicina C (MMC, e avaliar o efeito destas características sobre a pressão intra-ocular (Po. Métodos: De forma aleatória, em um estudo de coorte com duração de seis meses, foram examinados pela UBM 61 olhos de 44 pacientes portadores de glaucoma, submetidos à cirurgia de trabeculectomia, tendo 38 recebido a mitomicina C (MMC e 23 não. Todos os olhos foram examinados e avaliados no pós-operatório pelo UBM, com sonda de 50 MHz, utilizando a técnica descrita por Pavlin em 1991 (Pavlin et al., 1991. Resultados: A altura da bolha filtrante foi de 1,80 ± 0,74 mm nos olhos com MMC e de 1,40 ± 0,53 mm naqueles sem MMC. A espessura da parede da bolha foi de 0,91 ± 0,59 mm nos olhos que receberam a MMC e 0,51 ± 0,45 mm naqueles que não receberam. A Po foi de 12,37 ± 5,45 mmHg nos olhos com MMC e de 14,91 ± 5,48 mmHg nos que não receberam. Conclusões: O estudo pelo UBM demonstrou que foi a altura da bolha o elemento que mais influenciou na diminuição da Po. A espessura da parede foi significativamente maior nos olhos com MMC do que nos sem MMC. A diminuição da Po foi maior nos olhos em que foi utilizada a MMC, com uma diferença média de 2,54 mmHg.Purpose: To evaluate the presence or absence of filtering blebs, its cavities, differences in diameter, height, wall thickness, seen on ultrasound biomicroscopy (UBM of eyes submited to trabeculectomy, with or without using mitomicyn C (MMC, and to evaluate the effect of these caracteristics on the intraocular pressure (IOP. Methods: In a nonrandomized fashion, a six-month cohort study of 61 eyes of 44 glaucoma patients examined by UBM, all of which underwent trabeculectomy. Of these, 38 received MMC and 23 did

  1. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  2. A distinctive melanocytic lesion associated with melanoma-prone dysplastic naevus syndrome: the hybrid naevus.

    Science.gov (United States)

    Schubert, C; Parwaresch, R; Rudolph, P

    2001-02-01

    Clinically and histologically, the concept of dysplastic nevi remains controversial. To elaborate more precise criteria for the nevi of patients with dysplastic naevus syndrome (DNS), we examined 58 nevi from seven DNS patients who developed one or several malignant melanomas. Clinical presentation and histomorphology were evaluated, and immunohistochemistry was performed using proliferation marker Ki-S5 and antibody DO-7 to the p53 protein. Sixty nevi from individuals without history of melanoma served as controls. Of the DNS nevi, 21 (36.2%) exhibited no morphological particularities. The remaining 37 nevi presented distinctive histological features consisting of a slight epidermal acanthosis, spitzoid vertically oriented nests of dyscohesive nevus cells, and single-standing atypical melanocytes in the basal cell layer of the epidermis. Immunohistochemical analysis revealed an average proliferation index of 2.5%, which significantly surpassed the mean growth fraction of conventional dysplastic nevi (DNS possess distinctive features. The newly characterized criteria may provide a basis for the diagnosis of DNS and might help to identify patients at increased risk for malignant melanoma by examination of a single biopsy. PMID:11253119

  3. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  4. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  5. Rett Syndrome

    OpenAIRE

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a t...

  6. [Ascher's syndrome].

    Science.gov (United States)

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  7. [Piriformis syndrome].

    Science.gov (United States)

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  8. Griscelli syndrome.

    Science.gov (United States)

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  9. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  10. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  11. CREST Syndrome

    OpenAIRE

    Tuğçe Köksüz; Zeynep Nurhan Saraçoğlu; Ayşe Esra Koku-Aksu; İlham Sabuncu; Cengiz Korkmaz

    2014-01-01

    We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were ...

  12. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  13. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

  14. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  15. Genetics Home Reference: epidermal nevus

    Science.gov (United States)

    ... Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. Oncogenic PIK3CA mutations ... Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. Oncogenic PIK3CA mutations ...

  16. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  17. Myasthenic syndromes.

    Science.gov (United States)

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  18. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  19. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Tropical Delight: Melon Smoothie Pregnant? Your Baby's Growth Marfan Syndrome KidsHealth > For Parents > Marfan Syndrome Print A ... the Doctor en español Síndrome de Marfan About Marfan Syndrome Marfan syndrome is a progressive genetic disorder ...

  20. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus;

    2014-01-01

    -intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as......-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family...

  1. The design and technique of one stage treatment of eyelid divided nevus with island skin flap%岛状皮瓣一期修复眼睑分裂痣的设计与技巧

    Institute of Scientific and Technical Information of China (English)

    王晓军; 朱琳; 刘志飞; 乔群; 曾昂; 李薇薇; 王阳

    2010-01-01

    目的 探讨应用邻位及远位岛状皮瓣一期修复眼睑分裂痣的设计与技巧.方法 切除眼睑分裂痣上、下睑病变后,根据缺损的部位、形态及面积,选择应用眼轮匝肌蒂岛状皮瓣、耳后SMAS蒂岛状皮瓣或逆行颞浅动脉岛状皮瓣一期修复上、下睑皮肤缺损,供区均直接缝合.结果 2003年以来,共收治患者16例,其中应用眼轮匝肌肌皮瓣10例,耳后SMAS筋膜蒂皮瓣3例及逆行颞浅动脉岛状皮瓣3例.切除痣体的最大面积上睑为2.5 cm ×2.0 cm,下睑为4.0 cm×3.0 cm.1例耳后SMAS筋膜蒂皮瓣及1例逆行颞浅动脉岛状皮瓣术后出现皮瓣远端静脉回流障碍、部分表皮坏死,经换药后自行愈合,其余14例皮瓣全部成活良好.结论 根据病变的部位、形态和面积等选择合适的邻位或远位岛状皮瓣修复眼睑分裂痣切除术后皮肤缺损,效果满意,且供区隐蔽、无继发畸形.%Objective To investigate the design and technique of the one stage treatment of eyelid divided nevus with adjacent and distant island skin flap. Methods Under local or general anesthesia,the divided nevus on the upper and lower eyelid were excised totally or partially. According to the location,shape and size of the defect, orbicularis oculi musculocutaneous flap, postauricular SMAS-pedicled flap or reversal superficial temporal artery flap was chosen to repair the defect in one stage. The donor site was closed directly. Results Since 2003,16 patients were treated in this group, with 10 orbicularis oculi musculocutaneous flaps, 3 postauricular SMAS-pedicled flaps, and 3 reversal superficial temporal artery flaps. The largest size of the nevus on the upper and lower eyelid were 2.5 cm × 2.0 cm and 4.0 cm × 3.0 cm, respectively. One postanricular SMAS-pedicled flap and 1 reversal superficial temporal artery flap showed distal venous refluence obstruction and epidermal necrosis in early postoperative stage,which healed through dressing. The

  2. Efficacy of Q-switched Alexandrite laser on the nevus of Ota%调Q开关紫翠宝石激光治疗太田痣的疗效

    Institute of Scientific and Technical Information of China (English)

    童晓荣; 涂亚庭; 刘凌; 谭志建; 郭小红; 崔曙光; 杨井

    2011-01-01

    Objective To observe the clinical efficacy of Q-switched Alexandrite laser at 752 nm in the treatment of nevus of Ota. Methods A total of 1985 cases of nevus of Ota were treated with the Q-switched Alexandrite laser PhotoGenica HT10, and then the ages, frequency of treatment and interval of treatment were analyzed. Results The excellent effective rate was 97.88 %, and the total effective rate was 100 % in 1985 cases. Most patients in all age group received the excellent effects, however, there was no significant difference between the groups. Most patients acheived the excellent effect after 4 to 5 treatments, and very few patients (0.8 %) needed over 10 treatments; the rate ofpatient who needed 1-3 treatments or 6-10 treatments was 18. 2 % and 25.8 %, respectively. The patients had the most excellent efficacy in the group that the interval of two treatments was 4 to 6months, however, there was no significant difference between the group of the interval of two treatments over 6 months. In our study, there were only a few cases (4.48 %) with slight side reaction,such as temporary pigmentation and hypopigmentation and scar. Conclusions 752 nm Q-switched Alexandrite laser is one of effective and safe treatments for nevus of Ota.%目的 探讨调Q开关紫翠宝石激光治疗太田痣的临床疗效.方法 采用波长752 nm的调Q-Alexandrite激光PhotoGenica HT10治疗1985例太田痣患者,并从年龄、治疗次数、间隔时间及不良反应等方面进行分析,比较疗效.结果 1985例太田痣患者中显效率97.88%,总有效率100%;各年龄组均有良好效果,组间差异无统计学意义(P>0.05);多数患者(55.2%)需经4~5次治疗即可获较好疗效,极少数(0.8%)患者,需要治疗10次以上;治疗1~3次及6~10次达到较好效果的分别占18.2%和25.8%;2次治疗时间间隔4~6个月组与治疗间隔6个月组显效率高于不足3个月组,但治疗间隔4~6个月组与治疗间隔6个月组差异无统计学意义(P>0

  3. Analysis on Therapeutic Efficacy of Q-Switching 1064 nm Laser on Nevus of Ota%调Q开关1064 nm激光治疗太田痣的疗效分析

    Institute of Scientific and Technical Information of China (English)

    刘晓红; 苑凯华; 张桃花; 吴少强

    2013-01-01

    Objective To analyze the efficacy of Q-switching 1 064 nm laser in treating Nevus of Ota.Methods Altogether 248 patients with Nevus of Ota were treated with Q-switching 1 064 nm laser.The efficacy,treatment times and color and location attributes of the treatment were studied retrospectively.Results Of the 248 patients,236 (95.2%) were cured,and 12 (4.8%) showed remarkable improvement after 1-6 or more sessions of the treatment.The clinical efficacy was in direct proportion to treatment times.The lighter the skin color was,the better the effect was.The efficacy for the skin lesion within the forehead and temporal and nasal areas were much better.Pain,topical erythema and errhysis were commonly reported immediately after the laser treatments.Hyperpigmentation occurred in only 19 cases (7.4%),which was resolved within 6 months.Conclusions Q-switching 1064 nm laser appears to be safe,effective and well-tolerated in treating Nevus of Ota.%目的 分析Q开关1 064 nm激光治疗太田痣的临床疗效.方法 太田痣患者248例,采用Q开关1 064 nm激光治疗.回顾分析治疗后疗效、影响因素及并发症.结果 248例患者,经过1~6次和6次以上治疗,痊愈的患者为236例(95.2%),显效的患者为12例(4.8%).治疗次数与疗效呈正相关,随着治疗次数的增加,治疗有效率与痊愈率随之增高.治疗4次时,皮损颜色为灰褐色(78.2%)患者的显效率较蓝黑色(59.4%)的患者高;额部(75.7%)、颧颞部(75.8%)皮损的疗效较眼睑部(51.8%)好.治疗时常见的即刻不良反应为局部疼痛、渗血、肿胀.19例(7.4%)出现了短暂性色素沉着.结论 Q开关1 064 nm激光治疗太田痣,疗效显著,不良反应小,安全、可靠.

  4. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  5. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  6. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. PMID:27250821

  7. [Hepatopulmonary syndrome].

    Science.gov (United States)

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  8. Antiphospholipid syndrome.

    Science.gov (United States)

    George, Diane; Erkan, Doruk

    2009-01-01

    The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

  9. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  10. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Rett syndrome Rett syndrome Enable Javascript to view the expand/collapse ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  11. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? ... suggests that you consult your health care provider. PRENATAL TESTS FOR DOWN SYNDROME 256 Volume 50, No. ...

  12. Nevoid Basal Cell Carcinoma Syndrome

    Science.gov (United States)

    ... Nevoid Basal Cell Carcinoma Syndrome Request Permissions Nevoid Basal Cell Carcinoma Syndrome Approved by the Cancer.Net Editorial Board , 04/2016 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is ...

  13. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome. PMID:27209717

  14. Mobbing syndrome

    Directory of Open Access Journals (Sweden)

    Sakoula Z.

    2014-07-01

    Full Text Available Introduction: The term mobbing comes from the English word mob, meaning attack, Compass bother. Today is the systematic psychological attack and a strategic marginalization accepted at the workplace from their superiors or colleagues unwanted, for various reasons, employees. The term was used in 1800 by British biology, description of aggressive behavior in flight, certain species of migratory birds. In 1900, ethologist Konrad Lorenz uses it to interpret the hostility of the majority of the herd, compared to lean animals of the same breed. The German psychologist Heinz Leyman, is the first, which is in the 80s, attributes the condition in human society, describing all the negative health effects of mobbing in the workplace as a "syndrome mobbing». Purpose: To work is to illustrate the phenomenon mobbing, which can appear as a problem in the relationship of the perpetrator to the victim, but also implies the presence of such conditions to occur and flourish. Literature Review: searched the literature, internet, Keyword: Work or Employee Abuse, Mistreatment, Emotional Abuse, Bossing, Victimization, Intimidation, Psychological terrorization, Psychological violence. The mobbing syndrome is defined as "repeated abusive behavior, manifested through actions, words, intimidation, acts, gestures, ways of organizing work and have the character or purpose to offend the personality, dignity or physical or mental integrity of the worker in the performance of his work, to jeopardize the employment status or to create a hostile, intimidating, degrading, humiliating or offensive working environment. According to the French psychiatrist Marie France Hirigoyen, the "offender" is a personality that satisfied 'hurting' his fellows and develops self-esteem, conveying to others the "pain" that cannot feel, but also the internal contradictions that refuses edited. Conclusions: the mobbing is the reason for the development of mental and physical diseases as an

  15. Leigh syndrome

    International Nuclear Information System (INIS)

    A male infant developed hypotonia at 5 months, vomiting, diarrhea, fever, generalized clonic convulsion, tonic spasm and periodical opisthotonus at 8 months, swallowing difficulty at 10 months, pes equinovarus and optic atrophy at 11 months, and then tachypnea, and died at 14 months of age. Parents were consanguinous. Laboratory studies revealed elevated serum LDH, CPK, lactate and Pyruvate. TPP-ATP phosphoryl transferase inhibitor was negative in urine. EEG showed irregular and diffuse slow waves and periodic diffuse spike and waves. CT scan at 9 months of age showed slightly low attenuation areas in the putamen bilaterally. At 11 months, a diffuse cerebral atrophy was found, and the low attenuation of the basal ganglia became more definite. No enhanced lesion was seen at 13 months of age. Thiamine tetra-hydrofurfuryl disulfide and lipoic acid were tried without success. The pathological findings of the brain were astrogliosis and proliferation of capillaries in putamen, thalamus, caudate neucleus, substantia nigra, pontine brachium and cerebral cortex, which were symmetrically involved. The symmetrical cavitation was found in putamen. Optic nerve and mamillary body were spared. CT scan findings corresponded well with the pathology of the necrotic lesions of the brain. It was concluded that these CT scan pictures described above may be diagnostic of Leigh syndrome. (author)

  16. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  17. Milk-alkali syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  18. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Rett syndrome? Skip sharing on social media links Share this: ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  19. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  20. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Reality Donate to Research Reality Fund October is Rett Syndrome Awareness Month Rettsyndrome.org is excited to provide ... Website What’s in Your State? For Families: Find Rett syndrome related resources in your state! State Resources Rettsyndrome. ...

  1. Androgen insensitivity syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001180.htm Androgen insensitivity syndrome To use the sharing features on this page, please enable JavaScript. Androgen insensitivity syndrome (AIS) is when a person who ...

  2. Restless Legs Syndrome Foundation

    Science.gov (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  3. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  4. Munchausen syndrome by proxy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001555.htm Munchausen syndrome by proxy To use the sharing features on this page, please enable JavaScript. Munchausen syndrome by proxy is a mental illness and a form of ...

  5. Down Syndrome: Education

    Science.gov (United States)

    ... Kit Financials Newsroom Shop NDSS Home » Resources » Education Education This section includes information about inclusion, elementary and ... and postsecondary options for students with Down syndrome. Education & Down Syndrome This section provides an overview and ...

  6. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  7. Treacher Collins syndrome

    Science.gov (United States)

    Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families ( ...

  8. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Movie: Digestive System Winter Sports: Sledding, ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  9. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  10. Abdominal Pain Syndrome

    Science.gov (United States)

    ... inspection of a drop of urine), and urine culture for bacterial infection. Stools can be analyzed for ... Hepatitis C Inflammatory Bowel Disease Irritable Bowel Syndrome Obesity Digestive Health Topics Abdominal Pain Syndrome Belching, Bloating, ...

  11. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  12. Turner Syndrome (For Parents)

    Science.gov (United States)

    ... special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical ... and prompt him or her to order a karyotype. Results that indicate Turner syndrome show 45 chromosomes ...

  13. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    2008-01-01

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management consist

  14. Q开关755和1064nm激光治疗太田痣的疗效及其影响因素的分析%Clinical Effects of Q-switching 755 nm and 1 064 nm Lasers on Nevus of Ota and Affecting Factors

    Institute of Scientific and Technical Information of China (English)

    李永红; 林维嘉; 黄一锦; 李钟洙; 张启国

    2012-01-01

    目的 探讨Q开关755和1 064 nm激光治疗太田痣的疗效及其影响因素.方法 应用Q开关755和1 064 nm激光治疗太田痣410例.探讨治疗1~6次及6次以上的效果,并分析疗效与治疗次数、患者年龄、皮损颜色、皮损部位的关系.结果 410例患者治疗1~6次痊愈186例,显效174例,有效38例,无效12例,痊愈率45.4%,有效率87.8%.疗效与治疗次数呈正相关.年龄越小、皮损颜色越浅,疗效越好.额、颧部病变疗效好于眼睑部,总体不良反应发生率2.2%.结论 Q开关755和1 064 nm激光治疗太田痣,疗效显著,不良反应小,安全、可靠,影响其疗效的相关因素主要有治疗次数、患者的年龄、皮损颜色、皮损部位,治疗时间间隔等.%Objective To study the clinical effect of Q-switching 755 nm and 1064nm lasers on nevus of Ota and the affecting factors of the thera- py- Methods Altogether 410 patients with nevus of Ota were treated with Q-switching 755 nm and 1 064 nm lasers. The curative effects on nevus of Ota after 1 -6 times and more times of the therapy were observed respectively and the relation between curative effects and treatment frequency, ages of patients taking the therapy, and colors and location of skin lesions were analyzed separately. Results Results Of the 410 patients having received the therapy for 1-6 times, 186 patients were cured of nevus of Ota, 174 patients obtained significant effects, 38 patients saw an improvement and 12 patients failed to get any progress, indicating a cure rale of 45.4% and an effective rate of 87.8%. The clinical effect was in direct proportion to treatment frequency. The younger the patients were and the lighter the skin color was, the better the effect was. The therapy had a better effect on the nevus of Ota around the forehead and cheek than on those around eyelids. The general occurrence rate of adverse reactions was 2. 2%. Conclusions Treating nevus of Ota with Q-switching 755nm and 1064nm

  15. Metabolic Syndrome and Migraine

    OpenAIRE

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, ...

  16. Therapeutic effect of Q-switched alexandrite laser on nevus of Ota: a report of 180 cases in children%Q开关紫翠宝石激光治疗儿童太田痣180例疗效观察

    Institute of Scientific and Technical Information of China (English)

    褚岩; 徐子刚; 孙玉娟; 马琳

    2012-01-01

    目的 观察Q开关紫翠宝石激光治疗儿童太田痣的疗效及不良反应.方法 应用Q开关紫翠宝石激光治疗儿童太田痣180例,治疗间隔3~l2个月,根据临床登记及治疗前后患者照片判断疗效,并观察不良反应.结果 治疗次数1~7次,治愈123例(68.3%),总有效率85%.除个别患儿出现~过性的粟丘疹、色素沉着、色素减退和点状表浅瘢痕外,未见明显其他不良反应.结论 Q开关紫翠宝石激光治疗儿童太田痣安全有效.%Objective To analyze the efficacy and adverse effect of Q-switched alexandrite laser therapy on nevus of Ota in children. Methods One hundred and eighty children with nevus of Ota were treated by Q-switched alexandrite laser, and the treatment interval was 3 to 12 months. The efficacy and adverse effect were observed and evaluated by clinical records and photos before and after the treatment. Results One hundred twenty-three cases (68.3%) were cured after 1 to 7 times of treatments, and the total effective rate was 85%. No obvious adverse effect occurred excluding a few cases with transient milium, hyperpigmentation, hypopigmentation and superficial punctate scar. Conclusion Q-switched alexandrite laser is a safe and high effective therapy for nevus of Ota in children.

  17. PRES syndrome

    International Nuclear Information System (INIS)

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  18. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  19. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  20. Familial Crouzon syndrome

    OpenAIRE

    Y Samatha; T Harsha Vardhan; A Ravi Kiran; A J Sai Sankar; B Ramakrishna

    2010-01-01

    Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  1. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.)

  2. What Is Usher Syndrome?

    Science.gov (United States)

    ... into electrical impulses that transfer messages to the brain. How is Usher syndrome inherited? Usher syndrome is ... required for the child to be affected. A person with only one copy of the gene is a ... in deafness and deaf-blindness, but are not related to Usher syndrome. ...

  3. Stiff skin syndrome.

    Science.gov (United States)

    Geng, S; Lei, X; Toyohara, J P; Zhan, P; Wang, J; Tan, S

    2006-07-01

    Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features. PMID:16836505

  4. Fragile X Syndrome Overview

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Overview Skip sharing on social media links Share ... menu on the left. ​ Common Name Fragile X syndrome or Fragile X Medical or Scientific Names Martin-Bell syndrome Last ...

  5. CANDLE syndrome: a recently described autoinflammatory syndrome.

    Science.gov (United States)

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  6. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  7. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  8. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Goldman Michel

    2007-09-01

    Full Text Available Abstract Hypereosinophilic syndromes (HES constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant, or to increased interleukin (IL-5 production by a clonally expanded T cell population (lymphocytic variant, most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic

  9. Poland-Möbius syndrome.

    OpenAIRE

    Parker, D. L.; Mitchell, P. R.; Holmes, G. L.

    1981-01-01

    A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two syndromes. The association of the Poland syndrome and the Möbius syndrome occurs with sufficient frequency that the combination probably represents a formal genesis malformation syndrome of unknown aetiology that should be designated the Poland-Möbius syndrome.

  10. FT-Raman spectroscopy for the differentiation between cutaneous melanoma and pigmented nevus Espectroscopia FT-Raman na diferenciação entre melanoma cutâneo e nevo pigmentado

    Directory of Open Access Journals (Sweden)

    Sidney Bandeira Cartaxo

    2010-08-01

    Full Text Available Cutaneous melanoma is the most aggressive type of skin cancer and Ft-Raman spectroscopy has been studied as a potential method that could be a real alternative for early diagnosis of neoplasms. PURPOSE: To qualify the spectral FT-Raman data, in order to differentiate cutaneous melanoma and pigmented nevus. METHODS: For this study, 10 samples of cutaneous melanoma, 9 samples of pigmented nevi, and 10 samples of normal skin were obtained by incisional biopsies performed during plastic surgeries ex vivo, immediately after removing the surgical sample. RESULTS: The FT-Raman spectra of each group presented a high correlation between the elements of the same group, thus favoring the elaboration of spectral averages. When analyzing the spectral standard of each group, the normal skin standard did not show a significant variation between the spectra; the standard of the pigmented nevi group showed significant variation, and the cutaneous melanoma group also showed variation. Through univariate analysis, specific bands were detected for each vibrational mode identified. The discriminatory analysis of the data showed a 75.3% efficiency of the differentiation between the three groups studied. CONCLUSION: The vibrational modes Polysaccharides, Tyrosine and Amide-I differentiated the melanoma from the pigmented nevus.O melanoma cutâneo é o câncer de pele mais agressivo, e a espectroscopia FT-Raman tem sido estudada como um método em potencial que pode ser uma verdadeira alternativa no diagnóstico precoce de neoplasias. OBJETIVO: Qualificar os dados espectrais FT-Raman de modo a diferenciar melanoma cutâneo de nevo pigmentado. MÉTODOS: Foram utilizadas 10 amostras de melanoma cutâneo, obtidas por meio de biopsias incisionais realizadas "ex-vivo"; nove amostras de nevo pigmentado e 10 amostras de pele normal foram coletadas durante cirurgias plásticas. RESULTADOS: Os espectros FT-Raman de cada grupo diagnóstico apresentaram alta correlação entre os

  11. The Analysis of Quality of Life and Influence Factors in 352 Patients with Nevus of Ota%太田痣患者352例生活质量评估及影响因素分析

    Institute of Scientific and Technical Information of China (English)

    王娟; 王中影; 姚秀华; 张兰芳; 张思平; 胡白

    2015-01-01

    目的 探讨太田痣(nevus of Ota)对患者生活质量的影响及其影响因素.方法 使用皮肤病生活质量指数调查表(dermatology life quality index,DLQI)调查352例太田痣患者的生活质量,单因素、多因素分析影响生活质量的因素.结果 太田痣患者生活质量轻度、中度受影响者分别占45.17%和47.16%,其余7.67%患者对生活质量重度影响;单因素分析显示性别、发病年龄、皮损呈单/双侧分布、居住地、受教育程度、工作学习状态、皮损部位、皮损面积以及黏膜是否受累有统计学意义(P<0.05);多元回归分析显示性别、皮损面积、发病年龄是影响太田痣患者生活质量的主要因素(P <0.05,OR>1).结论 太田痣对绝大多数患者生活质量有着轻、中度影响,女性、皮损面积大、发病较晚是影响太田痣患者生活质量的主要因素.

  12. Comparison of clinical efficacy and complications between Q-switched alexandrite laser and Q-switched Nd:YAG laser on nevus of Ota: a systematic review and meta-analysis.

    Science.gov (United States)

    Yu, Panxi; Yu, Nanze; Diao, Wenqi; Yang, Xiaonan; Feng, Yongqiang; Qi, Zuoliang

    2016-04-01

    Although the application of Q-switched lasers on nevus of Ota (OTA) is well demonstrated, debates about clinical option between Q-switched alexandrite laser (QSA) and Q-switched Nd:YAG laser (QSNY) still remain. This systematic review and meta-analysis estimated the overall successful rate of OTA pigment clearance and complication rate of QSA and QSNY and evaluated which laser could produce a better result. English articles evaluating pigment clearance and complications of QSA and/or QSNY on OTA were screened through predetermined inclusion and exclusion criteria and analyzed. The successful rate of pigment clearance and complication rate of QSA and QSNY were respectively calculated using a random-effects or fixed-effects model, depending on the heterogeneity of the included studies. The successful rate and complication rate of QSA and QSNY were compared statistically. Of the 140 articles searched, 13 met inclusion criteria. Totally, 2153 OTA patients treated by QSA and 316 patients treated by QSNY were analyzed. In QSA and QSNY groups, respectively, the successful rate of OTA pigment clearance was 48.3% (95% confidence interval (CI) 19.9-76.8%) and 41% (95% CI 9.7-72.2%), while the complication rate was 8.0% (95% CI 3.9-12.2%) and 13.4% (95% CI 7.7-19.0%). When compared with QSNY, QSA had a significantly higher successful rate (P = 0.017), and a lower complication rate (P = 0.000). According to this review, QSA may surpass QSNY in treatment for OTA as it had a superior successful rate of pigment clearance and a lower complication rate than QSNY did.

  13. Pigmentary Markers in Danes - Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.

    Directory of Open Access Journals (Sweden)

    Peter Johansen

    Full Text Available To investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis contributed to melanoma predisposition, we compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical multiple mole and melanoma (FAMMM syndrome. We typed 32 pigmentary SNP markers and sequenced MC1R in 246 healthy individuals and 116 individuals attending periodic control for malignant melanoma development, 50 of which were diagnosed with FAMMM. It was observed that individuals with any two grouped MC1R variants (missense, NM_002386:c. 456C > A (p.TYR152*, or NM_002386:c.83_84insA (p.Asn29Glnfs*14 had significantly (p<0.001 lighter skin pigmentation of the upper-inner arm than those with none or one MC1R variant. We did not observe any significant association of the MC1R variants with constitutive pigmentation measured on the buttock area. We hypothesize that the effect of MC1R variants on arm pigmentation is primarily reflecting the inability to tan when subjected to UVR. A gender specific effect on skin pigmentation was also observed, and it was found that the skin pigmentation of females on average were darker than that of males (p<0.01. We conclude that MC1R variants are associated with quantitative skin colour in a lightly pigmented Danish population. We did not observe any association between any pigmentary marker and the FAMMM syndrome. We suggest that the genetics of FAMMM is not related to the genetics of the pigmentary pathway.

  14. Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families.

    Science.gov (United States)

    Furuya, Mitsuko; Tanaka, Reiko; Koga, Shunsuke; Yatabe, Yasushi; Gotoda, Hiroko; Takagi, Seiji; Hsu, Yung-Hsiang; Fujii, Takeshi; Okada, Akira; Kuroda, Naoto; Moritani, Suzuko; Mizuno, Hideki; Nagashima, Yoji; Nagahama, Kiyotaka; Hiroshima, Kenzo; Yoshino, Ichiro; Nomura, Fumio; Aoki, Ichiro; Nakatani, Yukio

    2012-04-01

    Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder characterized by fibrofolliculomas, renal tumors, and pulmonary cysts with recurrent pneumothorax. Multiple pulmonary cysts and pneumothorax are the key signs for diagnosing BHD syndrome. The pathologic features of BHD pulmonary cysts, however, are poorly understood. This disorder is caused by mutations in the gene that encodes folliculin (FLCN). FLCN is regarded as a tumor suppressor; it mediates cellular activities by interacting with the mammalian target of rapamycin (mTOR). In this study, we investigated the lungs of 11 patients from 9 BHD families. The majority of patients consulting doctors were women between 30 and 60 years of age who had pulmonary cysts and repeated pneumothoraces. Genomic DNA testing revealed 5 different mutation patterns. Histopathologic examination found that the inner surface of cysts was lined by epithelial cells, sometimes with a predominance of type II pneumocyte-like cuboidal cells. The cysts occasionally contained internal septa consisting of alveolar walls or showed an "alveoli within an alveolus" pattern. The cells constituting the cysts stained positive for phospho-S6 ribosomal protein expression, suggesting activation of the mTOR pathway. Although BHD pulmonary cysts are frequently misdiagnosed as nonspecific cystic diseases, they are distinctly different in histopathology from other bullous changes. Mechanical stress such as rupture and postrupture remodeling allows mesothelial invagination and fibrosis. Such modified BHD pulmonary cysts are virtually indistinguishable from nonspecific blebs and bullae. We propose a new insight, namely, that the BHD syndrome-associated pulmonary cyst may be considered a hamartoma-like cystic alveolar formation associated with deranged mTOR signaling. PMID:22441547

  15. Estudo comparativo entre vitiligo, nevo halo e lúpus eritematoso vitiligóide por meio de métodos imunológicos, histológicos e imuno-histoquímicos Comparative study of vitiligo, halo nevus, and vitiligoid variant of lupus erythematosus by immunological, histological, and immunohistochemical methods

    Directory of Open Access Journals (Sweden)

    Luiz Gonzaga C. Souza Filho

    2005-04-01

    Full Text Available FUNDAMENTOS: O estudo compara o vitiligo, o nevo halo (NH e lúpus eritematoso vitiligóide (LEV do ponto de vista imunológico, histológico e histoquímico. OBJETIVOS: Avaliar diferenças imuno-histoquímicas entre essas doenças e investigar se a despigmentação do LEV deve-se à destruição pós-inflamatória ou à agressão imunológica aos melanócitos. MÉTODOS: Foram avaliados 20 pacientes com vitiligo, 17 com vitiligo e NH, cinco com NH isolado e 15 com LEV. Detecção de anticorpos: IF direta e indireta com células névicas e de melanoma. Citotoxicidade: atividade NK contra células de melanoma. Estudo anátomo-histoquímico: exame histológico com hematoxilina e eosina, Fontana-Masson, Dopa e Dopa mais prata (D+P e exame histoquímico com proteína S-100. RESULTADOS: Doentes com vitiligo, NH e LEV apresentaram anticorpos antimelanócitos. Tanto no vitiligo e NH, como no LEV, demonstrou-se a presença de fatores de risco favorecedores da citotoxicidade celular. A coloração com D+P foi superior às colorações tradicionais e à proteína S-100 na detecção de melanócitos e melanina nas lesões de vitiligo, NH e LEV. CONCLUSÕES: Demonstrou-se a existência de anticorpos antimelanócitos no vitiligo e NH. É possível que a despigmentação no LEV se deva a fenômenos imunológicos semelhantes aos do vitiligo e NH. A detecção de melanócitos nas lesões de vitiligo sugere mais inibição funcional do que destruição dessas células.BACKGROUND: There are no records of comparative studies on the immunological, histological and immunohistochemical aspects of vitiligo, halo nevus and vitiligoid variant of lupus erythematosus in the literature. The studies available present only descriptive clinical data on leucoderma that accompanies lupus erythematosus in its diverse clinical forms. OBJECTIVES: 1- To evaluate the immunohistochemical differences between vitiligo, halo nevus and vitiligoid variant of lupus erythematosus; 2- To

  16. KYP型Q开关倍频Nd:YAG激光治疗太田痣72例的护理体会%KYP Q Switch Nd:YAG Laser in Treatment of Nevus of Ota and Nursing Care of 72 Cases

    Institute of Scientific and Technical Information of China (English)

    方于民

    2014-01-01

    Objective To investigate the experience of KYP type Q switching frequency doubled Nd:YAG laser in treatment of nevus of Ota nursing. Methods From October to 2014 in our department in 2008 August application for KYP type Q switching frequency doubled Nd:YAG laser in the treatment of 72 cases of nevus of Ota were retrospectively analyzed the nursing cooperation and the patients' treatment process. Results The remarkable curative ef ect. Conclusion Nursing before and after operation, timely communication, shorten recovery time, less complications and increase patient satisfaction.%目的:探讨KYP型Q开关倍频Nd:YAG激光治疗太田痣护理体会。方法我科于2008年10月~2014年8月应用KYP型Q开关倍频Nd:YAG激光治疗太田痣患者72例,回顾性分析通过患者的积极配合和治疗过程中精心的护理。结果取得显著疗效。结论手术前后的护理,及时的沟通解决,缩短了恢复时间,减少了并发症,大大增加了患者的满意度。

  17. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  18. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  19. Hemolytic Uremic Syndrome in Children

    Science.gov (United States)

    ... KB)​​​​​ Alternate Language URL Hemolytic Uremic Syndrome in Children Page Content On this page: What is hemolytic ... spine. [ Top ] What causes hemolytic uremic syndrome in children? The most common cause of hemolytic uremic syndrome ...

  20. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  1. Genetics Home Reference: Rotor syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Rotor syndrome Rotor syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Rotor syndrome is a relatively mild condition characterized by ...

  2. Features of Fragile X Syndrome

    Science.gov (United States)

    ... Figuring Out CGG Repeats! Donate | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic condition that causes ... health concerns associated with the condition. Features of Fragile X Syndrome in Males Read our Story The majority of ...

  3. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  4. Fat embolism syndrome

    OpenAIRE

    Jacob George; Reeba George; Dixit, R; Gupta, R C; Gupta, N.

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonar...

  5. Cannabinoid Hyperemesis Syndrome

    OpenAIRE

    Galli, Jonathan A.; Sawaya, Ronald Andari; Friedenberg, Frank K.

    2011-01-01

    Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointes...

  6. Understanding Brugada syndrome.

    Science.gov (United States)

    Gehshan, Janine Mary; Rizzolo, Denise

    2015-06-01

    Brugada syndrome is an established cause of sudden cardiac arrest in patients without structural cardiac abnormalities. Recognition and diagnosis of this syndrome has been slowly increasing. Syncope, ventricular dysrhythmia, or sudden cardiac arrest may be the presenting symptom, although detection of the characteristic right precordial ST-segment elevation on ECG can be a potentially lifesaving intervention. This article reviews the clinical presentation, pathophysiology, genetics, and current management of Brugada syndrome. PMID:25932713

  7. Posterior Reversible Encephalopathy Syndrome

    OpenAIRE

    J Gordon Millichap

    2013-01-01

    Investigators at Children's Hospital of Montefiore, Albert Einstein College of Medicine, NY, determined the incidence of posterior reversible encephalopathy syndrome (PRES) in a pediatric critical care unit.

  8. Short Bowel Syndrome

    Science.gov (United States)

    ... may include nutritional support medications surgery intestinal transplant Nutritional Support The main treatment for short bowel syndrome is nutritional support, which may include the following: Oral rehydration. Adults ...

  9. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  10. Neonatal abstinence syndrome

    Science.gov (United States)

    ... JR, Isemann B, Ward LP, et al. Current management of neonatal abstinence syndrome secondary to ... MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of ...

  11. Laugier-Hunziker syndrome.

    Science.gov (United States)

    Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V

    2012-05-01

    Laugier-Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier-Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier-Hunziker syndrome with its differential diagnosis.

  12. Do you know this syndrome? *

    OpenAIRE

    Rosmaninho, A.; Pinto-Almeida, T.; Fernandes, I; Machado, S; Selores, M.

    2013-01-01

    Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), d...

  13. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  14. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  15. Bronchiectasis and Marfan's syndrome.

    OpenAIRE

    Foster, M E; Foster, D R

    1980-01-01

    Marfan's syndrome is a rare hereditary disorder characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary abnormalities occur in approximately 10% of patients the commonest being spontaneous pneumothorax and emphysema. A patient is described who had Marfan's syndrome and bronchiectasis, an association only described on 2 previous occasions in the literature.

  16. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  17. Syndrome in question*

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  18. Syndrome in Question.

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  19. Syndrome in question*

    OpenAIRE

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.

  20. MECP2 Duplication Syndrome

    DEFF Research Database (Denmark)

    Signorini, Cinzia; De Felice, Claudio; Leoncini, Silvia;

    2016-01-01

    Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients...

  1. Klippel-Feil Syndrome

    Science.gov (United States)

    ... such as Klippel-Feil Syndrome and open promising new avenues for treatment. NIH Patient Recruitment for Klippel-Feil Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 March of Dimes 1275 Mamaroneck Avenue ...

  2. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and self-ne

  3. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  4. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  5. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous sys

  6. Epidemiology of Down Syndrome

    Science.gov (United States)

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  7. Restless Legs Syndrome

    Science.gov (United States)

    ... Us FAQs Home » Health Information for the Public » Health Topics » Restless Legs Syndrome Explore Restless Legs Syndrome What Is... Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Living With Clinical Trials Links Related Topics Insomnia Sleep Deprivation and Deficiency Sleep Studies Send a ...

  8. Juvenile polyposis syndrome

    NARCIS (Netherlands)

    L.A.A. Brosens; D. Langeveld; W.A. van Hattem; F.M. Giardiello; G.J.A. Offerhaus

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a

  9. Polycystic ovarian syndrome

    OpenAIRE

    Nina Madnani; Kaleem Khan; Phulrenu Chauhan; Girish Parmar

    2013-01-01

    Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examinatio...

  10. Apert Syndrome. Case Report

    Directory of Open Access Journals (Sweden)

    Ninecta Pérez Breña

    2010-08-01

    Full Text Available The case of a white female aged 7 is evaluated in the Primary Care Service of the Barrio Adentro medical mission in Nueva Esparta state, Republic of Venezuela. After a clinical and radiological evaluation she is diagnosed with a genetic syndrome known as Apert Syndrome.

  11. Peripheral nerve hyperexcitability syndromes.

    Science.gov (United States)

    Küçükali, Cem Ismail; Kürtüncü, Murat; Akçay, Halil İbrahim; Tüzün, Erdem; Öge, Ali Emre

    2015-01-01

    Peripheral nerve hyperexcitability (PNH) syndromes can be subclassified as primary and secondary. The main primary PNH syndromes are neuromyotonia, cramp-fasciculation syndrome (CFS), and Morvan's syndrome, which cause widespread symptoms and signs without the association of an evident peripheral nerve disease. Their major symptoms are muscle twitching and stiffness, which differ only in severity between neuromyotonia and CFS. Cramps, pseudomyotonia, hyperhidrosis, and some other autonomic abnormalities, as well as mild positive sensory phenomena, can be seen in several patients. Symptoms reflecting the involvement of the central nervous system occur in Morvan's syndrome. Secondary PNH syndromes are generally seen in patients with focal or diffuse diseases affecting the peripheral nervous system. The PNH-related symptoms and signs are generally found incidentally during clinical or electrodiagnostic examinations. The electrophysiological findings that are very useful in the diagnosis of PNH are myokymic and neuromyotonic discharges in needle electromyography along with some additional indicators of increased nerve fiber excitability. Based on clinicopathological and etiological associations, PNH syndromes can also be classified as immune mediated, genetic, and those caused by other miscellaneous factors. There has been an increasing awareness on the role of voltage-gated potassium channel complex autoimmunity in primary PNH pathogenesis. Then again, a long list of toxic compounds and genetic factors has also been implicated in development of PNH. The management of primary PNH syndromes comprises symptomatic treatment with anticonvulsant drugs, immune modulation if necessary, and treatment of possible associated dysimmune and/or malignant conditions. PMID:25719304

  12. Kleine Levin Syndrome

    Directory of Open Access Journals (Sweden)

    Abdul Wahid Khan, Zia Ud Din, Abdul Salam

    2002-07-01

    Full Text Available A case of Kleine Levin Syndrome is presented. Episodic course with spontaneous remission of eachepisode and characteristic features of hypersomnia, hyperphagia, disinhibited behavior. affective featureslike ilTitability and cognitive disturbance made the diagnosis of Kleine Levin syndrome 111 ourpatient.

  13. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  14. Fragile X syndrome.

    OpenAIRE

    Wiebe, E.; A. Wiebe

    1994-01-01

    Fragile X syndrome is the most common form of inherited mental retardation. Only recently has it been possible to detect all carriers and transmitters. We review the syndrome and discuss the pedigree of a large fragile X family. Family doctors should identify cases in their practices so genetic counseling can be offered to the families.

  15. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  16. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  17. [Frey syndrome in childhood].

    Science.gov (United States)

    Clarós, P; González-Enseñat, M A; Arimany, J; Vincente, M A; Clarós, A

    1993-01-01

    Frey's syndrome is distinguished by the appearing of erythema, sensation of hotness, sometimes pain, and transpiration discharge in the preauricular and temporal area when ingestion stars. We present an eleven month old child with this pathology and we review the etiology and clinic manifestations of this syndrome. PMID:8129975

  18. [Schizophrenia or Asperger syndrome?].

    Science.gov (United States)

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning.

  19. [The refeeding syndrome].

    Science.gov (United States)

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  20. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

    A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)