Full Text Available The blue rubber nevus syndrome consists of multiple venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may be involved. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. It is a condition that affects both sexes equally, and its occurrence is rare in the black race. We present a case of this syndrome diagnosed in a 11-year-old patient. He had severe anemia and a venous swelling on the trunk. Similar lesions were found in the stomach, bowel, and on his foot. We emphasize the main clinical aspects: intestine, eyes, nasopharynx, parotids, lungs, liver, spleen, heart, brain, pleura, peritoneum, pericardium, skeletal muscles, bladder, and penis lesions, systemic complications that may occur to these patients which are thrombosis and calcification, as well as consumptive coagulopathy and thrombocytopenia that may occur within the nevi.
Blue Rubber Bleb Nevus Syndrome (BRBNS) is an uncommon congenital disorder characterized by sporadic venous malformation which mainly occurs in skin and alimentary canal. Here, we report a BRBNS patient with concomitant intestinal intussusception who diagnosed by intraoperative endoscopy and ultimately ...
Hansen, L; Wewer, V; Pedersen, S
We report on a child with blue rubber bleb nevus syndrome (BRBNS) presenting during the first days of life with severe bleeding from the upper gastrointestinal tract. Medical treatment with methylprednisolone, cyklokapron, interferon 1 alpha and numerous blood transfusions were given to control...... 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...
Magaly Gemio Teixeira
Full Text Available The case of a patient with blue rubber bleb nevus syndrome who is infected by acquired immunodeficiency syndrome virus due to multiple blood transfusions is presented. This case shows that although it is a rare systemic disorder, blue rubber bleb nevus syndrome has to be considered in the differential diagnosis of chronic anemia or gastrointestinal bleeding. Patients should be investigated by endoscopy, which is the most reliable method for detecting these lesions. The patient underwent gastroscopy and enteroscopy via enterotomy with identification of all lesions. Minimal resection of the larger lesions and string-purse suture of the smaller ones involving all the layers of the intestine were performed. The string-purse suture of the lesions detected by enteroscopy proved to be an effective technique for handling these lesions, avoiding extensive intestinal resection and stopping the bleeding. Effective management of these patients demands aggressive treatment and should be initiated as soon as possible to avoid risks involved in blood transfusions, as occurred in this case.É descrito um caso da síndrome do blue rubber bleb nevus associada a infecção pelo vírus da imunodeficiência adquirida em conseqüência de múltiplas transfusões de sangue. Este caso demonstra que, embora rara, esta síndrome deva ser considerada no diagnóstico diferencial da anemia crônica ou sangramento gastrointestinal. O melhor método diagnóstico é a endoscopia. A doente foi operada e submetida a esofagogastroduodenoscopia e endoscopia através de enterotomia com identificação de todas as lesões que foram tratadas, as maiores, por ressecção mínima e as demais por sutura em bolsa ao redor do nevo interessando toda a parede intestinal. A sutura em bolsa das lesões detectadas por enteroscopia demonstrou ser uma técnica efetiva no tratamento destas lesões, evitando assim ressecções intestinais extensas e parando o sangramento. O manuseio destes doentes
... nevus syndrome Basal cell nevus syndrome - face References Evans DG, Farndon PA. Nevoid basal cell carcinoma syndrome. ... A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among ...
Ogunbiyi, A O; Lagunju, Ike
Nevus sebaceous syndrome is a member of the epidermal nevus syndromes group, and is characterized by extensive nevus sebaceous, seizures, and mental retardation. We present an affected 5-month-old boy who had facial hemi-hypertrophy and recurrent seizures.
Hsieh, Chih-Wei; Wu, Yu-Hung; Lin, Shuan-Pei; Peng, Chun-Chih; Ho, Che-Sheng
SCALP syndrome is an acronym describing the coincidence of sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus). We present a fourth case of this syndrome. © 2012 Wiley Periodicals, Inc.
Bae, Kyeung Kug; Byun, Woo Mok; Cho, Jae Ho; Cho, Kil Ho
Linear sebaceous nevus syndrome, which is the association of nevus sebaceous of Jadassohn in the midfacial area with seizure and mental deficiency, has been reported in at least 100 cases. Hemimegalencephaly is a rare malformation consisting of unilateral hypertrophy of the brain, an abnormal gyral pattern, thickened cortex, white matter abnormality, and lateral ventricular dilatation. The authors report a case of linear sebaceous nevus syndrome with hemimegalencephaly, diagnosed on the basis of clinical data and brain MRI
SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity.
Lam, Joseph; Dohil, Magdalene A; Eichenfield, Lawrence F; Cunningham, Bari B
Nevus sebaceus syndrome (SNS) is a constellation of nevus sebaceus with extracutaneous findings, including the ophthalmologic nervous, and musculoskeletal systems. Didymosis aplasticosebacea is a recently described entity consisting of aplasia cutis congenita and nevus sebaceus, implying twin spotting (didymosis). We describe a neonate with a nevus sebaceus on the scalp and a limbal dermoid on her left eye. Contiguous with the nevus sebaceus was a giant congenital melanocytic nevus and numerous areas of membranous aplasia cutis congenita. We propose the acronym SCALP (nevus sebaceus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus) to summarize the unique features of this case and review the two similar cases in the literature.
J Gordon Millichap
Full Text Available Two infants with linear nevus sebaceum syndrome and infantile spasms are reported from Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Israel; and Hospital for Sick Children, Toronto, Canada.
Park, Tae Won
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.
J Gordon Millichap
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.
... skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas. This ... close-up of the pits found in the palm of an individual with basal cell nevus syndrome.
Hansen, L; Wewer, V; Pedersen, S
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...
Blue rubber bleb naevus syndrome (BRBNS) is characterised by vascular malformations of the skin and gastrointestinal tract. We present the rare case of BRBNS in an African child. She presented with large-volume gastrointestinal bleeding and was managed by on-table colonoscopic identification and surgical excision, ...
Full Text Available Sturge-Weber syndrome (SWS, a rare sporadic neurocutaneous disease, is characterized by a congenital unilateral port-wine nevus affecting the area innervated by V1, ipsilateral leptomeningeal angiomatosis, and calcification in the occipital or frontoparietal region and glaucoma/vascular eye abnormality. Three types of SWS have been described in literature: Type I (classic demonstrates facial and leptomeningeal angioma, often with glaucoma; type II has facial angioma and glaucoma, with no evidence of intracranial lesions; and type III (rarest presents with only leptomeningeal angioma. Only a few cases of type III SWS have been reported. Here, we report a case of a seven-year-old boy with focal complex partial seizure, who was diagnosed with SWS without facial nevus. Recognition of this type of SWS is important, as our patient had been misdiagnosed and received inappropriate antiepileptic drugs for six years. We suggest that in the appropriate clinical scenario, the diagnosis of SWS without facial nevus should be considered before labelling idiopathic or cryptogenic localization-related epilepsy, and gadolinium-enhanced magnetic resonance imaging (MRI should be done in clinically suspicious cases of SWS, without facial nevus.
Priscilla Luppi Ballalai
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.
Rubegni, P; Poggiali, S; Sbano, P; Nami, N; Hayek, J; Motolese, P A; Fimiani, M
The sebaceous nevus syndrome (SNS) is characterized by the presence of a sebaceous nevus and extracutaneous abnormalities, usually involving organs derived from the neuroectoderm. The authors report the case of a 22 year-old patient with a systematized sebaceous nevus on the forehead and scalp and a history of developmental delay and severe seizure disorders. The father of the patient also indicated prior surgery to correct an ocular coloboma and prior removal of a squamous cell epithelioma of the tongue. Firstly described by Gustav Schimmelpenning in 1957, SNS, also known as 'Schimmelpenning-Feuerstein-Mims syndrome', is one of the six different types of epidermal nevus syndromes. In patients with SNS the risk of developing neoplasms is higher than that of the general population. The particularity of our case lies in the late diagnosis. The authors believe that early diagnosis and awareness of the potential presence of neoplasms are important for those involved in the care of patients with SNS.
Shahgholi, Elham; Mollaian, Mansour; Haghshenas, Zahra; Honarmand, Malektaj
We describe a newborn girl with right-sided extended epidermal nevus, congenital rhabdomyosarcoma of the inguinal area at birth who had developed central precocious puberty, hemihypertrophy and vitamin D3-responsive hypophosphatemic rickets at the age of 14 months. Our patient demonstrates a much broader and polymorphic spectrum of organ systems involvement in epidermal nevus syndrome at a very early age of her life.
Wagener, Marie; Laskas, Joseph W; Purcell, Stephen; Ermolovich, Tanya
Muckle-Wells syndrome (MWS) is a rare disorder inherited in an autosomal-dominant fashion that belongs to a group of hereditary periodic fever syndromes. It specifically belongs to the cryopyrin-associated periodic syndromes (CAPSs) in which there is a mutation in the NLRP 3 (NLR family pyrin domain containing 3) gene that leads to overproduction of IL-1β, the source of the multisystem inflammatory symptoms. Muckle-Wells syndrome is characterized by a recurrent urticarial eruption that is associated with episodic fever, myalgia, arthralgia, malaise, progressive sensorineural hearing loss, and amyloid nephropathy (the most severe complication). Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare, autosomal-dominant inherited genodermatosis linked to a mutation in the PTCH 1 (patched 1) gene and is characterized by a broad range of anomalies. We report the case of a patient with MWS and BCNS in whom basal cell carcinoma (BCC) treatment was complicated by symptoms of MWS.
Josenildo Rodrigues de Oliveira
Full Text Available Nevo de cabelo lanoso é condição rara, não hereditária, caracterizada por cabelos claros, enovelados, localizados em uma ou mais áreas do couro cabeludo. Os autores apresentam um caso com início na infância e associado com queratodermia palmoplantar e cardiopatia, compreendendo a denominada síndrome do nevo de cabelo lanosoWoolly Hair Nevus is a rare, nonhereditary condition characterized by tightly curled hair localized on one or several areas of the scalp. The authors present a case of woolly hair nevus with onset during childhood, which is associated with palmoplantar keratoderma and cardiopathy. It is named woolly hair nevus syndrome.
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.
Matsuo, Mioko; Rikimaru, Fumihide; Higaki, Yuichiro; Masuda, Muneyuki
Basal cell nevus syndrome is an autosomal dominant disorder characterized by the developmental malformations and its carcinogenic nature. This syndrome shows various symptoms of multiple cutaneous basal cell carcinoma, ketatocystic odontogenic tumors, and inborn abnormalities in the bone and skin. Although basal cell nevus syndrome itself is a rare disorder, we experienced a very rare case in which squamous cell carcinoma of the oral cavity developed, and not cutaneous basal cell carcinoma. Only 4 similar cases have been reported in the English literature. The patient was a 33-year-old woman. She was diagnosed as having squamous cell carcinoma of the hard palate, and basal cell nevus syndrome in our hospital. The patient underwent surgery for squamous cell carcinoma of the hard palate, with postoperative chemoradiothetrapy. Since patients with this syndrome tend to form basal cell carcinoma when exposed to X-ray radiation, we perform radiotherapy with care.
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.
Ozgur, Omar K; Yin, Vivian; Chou, Eva; Ball, Sharon; Kies, Merrill; William, William N; Migden, Michael; Thuro, Bradley A; Esmaeli, Bita
To review our experience treating patients with the Hedgehog pathway inhibitor, vismodegib, in patients with orbital or periocular locally advanced or metastatic basal cell carcinoma (BCC) or basal cell nevus syndrome. Retrospective interventional case series. We reviewed all patients with locally advanced or metastatic orbital or periocular BCC or basal cell nevus syndrome treated with the Hedgehog pathway inhibitor, vismodegib, at a comprehensive cancer center from 2009 through 2015. Reviewed data included age; sex; American Joint Commission on Cancer tumor, node, metastasis staging system designation; type and grade of drug-related side effects; response to treatment; duration of follow-up, and status at last follow-up. The study included 10 white men and 2 white women; the median age was 64.5 years. Ten patients had locally advanced BCC; 2 had basal cell nevus syndrome. Among the patients with locally advanced BCC, 5 had T3bN0M0 disease at presentation; 1 each had T3aN0M0, T3bN1M0, T2N1M1, T4N1M1, and T4N2cM1 disease. Overall, 3 patients had a complete response, 6 had a partial response, and 3 had stable disease at last follow-up. Two patients developed progressive disease after a complete response for 38 months and stable disease for 16 months, respectively. All patients developed grade I drug-related adverse effects, most commonly muscle spasms (12 patients), weight loss (10), dysgeusia (9), alopecia (9), decreased appetite (5), and fatigue (4). Five patients developed grade II adverse effects. At last follow-up, none of the 5 patients presenting with T3bN0M0, nor the patient with T3bN1M0 disease, had required orbital exenteration. Hedgehog pathway inhibition produces a significant clinical response in most patients with locally advanced or metastatic orbital or periocular BCC or basal cell nevus syndrome and can obviate orbital exenteration in some patients. Drug-related adverse effects are manageable in most patients. Copyright © 2015 Elsevier Inc. All
... nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... the spine) Involvement of the membranes of the brain and spinal cord when the nevus affects a ...
Barbosa, M.N.S.; Cunha, M.O.; Severiche, A.F.A.; Ramos, C.D.; Etchebehere, E.C.S.C.; Belangero, W.; Camargo, E.E.
Full text: Epidermal nevus syndrome has been described as a congenital neurocutaneous disorder in which epidermal nevi are associated with malformations of other organs, commonly the skeleton and central nervous system. Ocular, cardiac, and genitourinary system abnormalities, as well as other skin lesions, may also be seen. A 19 year old patient with epidermal nevus syndrome, presenting congenital facial epidermal nevi and bone deformity of the lower limbs (shortening of the left leg, left thigh varum, bilateral genu valgum, and multiple pathological fractures), as referred to the nuclear medicine laboratory to evaluate involvement of other sites of the skeleton. Whole body bone scintigraphy performed with MDP-Tc-99m showed multiple small focal areas of increased uptake in the skeleton, mainly in the upper and lower limbs, posterior ribs, right acetabulum, right sacroiliac joint, and right greater trochanter, interpreted as pathological fractures at different stages of remodeling. The range of skeletal findings in this condition is quite diverse. Many of these findings can be attributed to local tissue overgrowth with deformities and advanced bone age, associate with pathological fractures
Athar, Mohammad; Li, Changzhao; Kim, Arianna L; Spiegelman, Vladimir S; Bickers, David R
The hedgehog (Hh) signaling pathway is considered to be a major signal transduction pathway during embryonic development, but it usually shuts down after birth. Aberrant Sonic hedgehog (Shh) activation during adulthood leads to neoplastic growth. Basal cell carcinoma (BCC) of the skin is driven by this pathway. Here, we summarize information related to the pathogenesis of this neoplasm, discuss pathways that crosstalk with Shh signaling, and the importance of the primary cilium in this neoplastic process. The identification of the basic/translational components of Shh signaling has led to the discovery of potential mechanism-driven druggable targets and subsequent clinical trials have confirmed their remarkable efficacy in treating BCCs, particularly in patients with nevoid BCC syndrome (NBCCS), an autosomal dominant disorder in which patients inherit a germline mutation in the tumor-suppressor gene Patched (Ptch). Patients with NBCCS develop dozens to hundreds of BCCs due to derepression of the downstream G-protein-coupled receptor Smoothened (SMO). Ptch mutations permit transposition of SMO to the primary cilium followed by enhanced expression of transcription factors Glis that drive cell proliferation and tumor growth. Clinical trials with the SMO inhibitor, vismodegib, showed remarkable efficacy in patients with NBCCS, which finally led to its FDA approval in 2012. ©2014 American Association for Cancer Research.
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)
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.)
Neumann, Luitgard M; Scheer, Ianina; Kunze, Jürgen; Stöver, Brigitte
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.
Neumann, Luitgard M.; Kunze, Juergen; Scheer, Ianina; Stoever, Brigitte
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.)
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.
Patel, Nisha; Khan, Arif O; Mansour, Ahmad; Mohamed, Jawahir Y; Al-Assiri, Abdullah; Haddad, Randa; Jia, Xiaofei; Xiong, Yong; Mégarbané, André; Traboulsi, Elias I; Alkuraya, Fowzan S
We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ASPH as the disease locus, in which we identified two homozygous mutations. ASPH encodes aspartyl/asparaginyl β-hydroxylase (ASPH), which has been found to hydroxylate aspartic acid and asparagine residues on epidermal growth factor (EGF)-domain-containing proteins. The truncating and missense mutations we identified are predicted to severely impair the enzymatic function of ASPH, which suggests a possible link to other forms of ectopia lentis given that many of the genes implicated in this phenotype encode proteins that harbor EGF domains. Developmental analysis of Asph revealed an expression pattern consistent with the proposed link to the human syndrome. Indeed, Asph-knockout mice had a foreshortened snout, which corresponds to the facial abnormalities in individuals with Traboulsi syndrome. These data support a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in human development. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
... Nevus Outreach Holiday Newsletter What a Year Simply Fabulous CMN Classification Leo's Double Digit Birthday Support Nevus ... Nevus Outreach Holiday Newsletter What a Year Simply Fabulous CMN Classification Leo's Double Digit Birthday Support Nevus ...
Cohen, Philip R
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. 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. Pubmed was used to search the following terms: axillary basal cell carcinoma and basal cell nevus syndrome. The papers and their citations were evaluated. Basal cell nevus syndrome patients with basal cell carcinoma of the axilla were observed in two women; this represents 2.5% (2 of 79) of the patients with axillary basal cell carcinoma. Both women had pigmented tumors that were histologically nonaggressive. The cancers did not recur after curettage or excision. Basal cell carcinoma of the axilla has only been described in 79 individuals; two of the patients were women with pigmented tumors who had basal cell nevus syndrome. Similar to other patients with axillary basal cell carcinoma, the tumors were histologically nonaggressive and did not recur following treatment. Whether PTCH1 gene mutation predisposes basal cell nevus patients to develop axillary basal cell carcinomas remains to be determined.
Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: firstname.lastname@example.org [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem
Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)
Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe
Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)
Cohen, Philip R
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...
Tang, Jean Y.; Chiou, Albert S.; Mackay-Wiggan, Julian M.; Aszterbaum, Michelle; Chanana, Anita M.; Lee, Wayne; Lindgren, Joselyn A.; Raphael, Maria Acosta; Thompson, Bobbye J.; Bickers, David R.; Epstein, Ervin H.
Sporadic human basal cell carcinomas (BCCs) are generally well managed with current surgical modalities. However in the subset of high-risk patients predisposed to developing large numbers of BCCs, there is an unmet need for effective, low morbidity chemoprevention. This population includes fair-skinned patients with extensive sun exposure and those with genodermatoses such as the basal cell nevus (Gorlin) syndrome (BCNS). Tazarotene (Tazorac, Allergan) is a topical retinoid with relative spe...
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.
... Epidermal Nevus Disease InfoSearch: Epidermal nevus Foundation for Ichthyosis and Related Skin Types (FIRST): Epidermal Nevus Fact ... Support and Advocacy Resources (3 links) Foundation for Ichthyosis and Related Skin Types (FIRST) National Organization for ...
Thielmann, H W; Popanda, O; Edler, L; Böing, A; Jung, E G
The DNA excision repair capacity of 23 primary fibroblast lines from patients with dysplastic nevus syndrome was investigated and DNA repair synthesis ("unscheduled DNA synthesis") was determined after UV exposure. Seventeen fibroblast lines from normal donors served as controls. The dose/response experiments included up to ten dose levels and two wavelength ranges: UV-C (using a low-pressure mercury lamp emitting predominantly 254-nm light) and UV-B (artificial "sunlamp" radiation centering around 312-nm light). For each dose level, silver grains over fibroblast nuclei were counted by visual inspection. Twelve cell lines were also evaluated for both UV wavelength ranges using a new semi-automatic image analyzing system. This system included components for rapid sequential identification of both fibroblast nuclei and silver grains sited above them. Silver grains over 100 nuclei were determined for each UV dose level. Dose/response curves were established and analyzed by linear regression. As a quantitative term for assessing DNA excision repair capacity of a cell line we calculated the linear increase (G0) in the number of grains per nucleus, when the UV dose was multiplied by the factor e (i.e. 2.72). The sensitivity of grain detection and resolution of overlapping grains was approximately threefold better in visual than in automatic counting, especially when there were more than 70 grains over nuclei. The time required for visual counting, however, was tenfold that of automatic counting. The variance-weighted mean G0v.w of all fibroblast lines from patients with dysplastic nevus syndrome was found to be 79.1 (+/- 1.8- grains/nucleus, that of fibroblast lines from normal donors was 74.2 (+/- 1.7) grains/nucleus. This difference revealed a slightly better repair capability for cell lines from patients but was at the borderline of detection and, therefore, should not be overinterpreted. From the experimental accuracy achieved by determination of the variance
Full Text Available Epidermal nevus syndromes are rare conditions, characterized by different types of keratinocytic or organoid epidermal nevi in association with ocular, neurological, and skeletal manifestations. We present a case of late onset epidermal nevus with hypertrichosis and hemihypertrophy of face. Genetic analysis did not reveal presence of FGFR3 or PIK3CA mutations. The patient has features that cannot be categorized into the present well-known syndromes.
Saritha, M; Chandrashekar, Laxmisha; Thappa, Devinder Mohan; Ramesh, A; Basu, Debdatta
Epidermal nevus syndromes are rare conditions, characterized by different types of keratinocytic or organoid epidermal nevi in association with ocular, neurological, and skeletal manifestations. We present a case of late onset epidermal nevus with hypertrichosis and hemihypertrophy of face. Genetic analysis did not reveal presence of FGFR3 or PIK3CA mutations. The patient has features that cannot be categorized into the present well-known syndromes.
Woolley, T. E.
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.
Smith, P.J.; Greene, M.H.; Adams, D.; Paterson, M.C.
The dysplastic nevus syndrome (DNS) is a preneoplastic melanocyte abnormality which occurs in families affected by hereditary cutaneous malignant melanoma (HCMM). A putative role of host-environmental interactions in the etiology of hereditary melanoma has been strengthened by the recent finding that fibroblasts derived from HCMM/DNS patients demonstrated enhanced sensitivity to u.v.-irradiation in vitro. An extension of these studies is reported in which we have examined the invitro responses to a model environmental carcinogen, 4-nitroquinoline 1-oxide (4NQO), of six non-tumor skin fibroblast strains from HCMM/DNS patients representing five families. Three of the six HCMM/DNS strains showed enhanced cell killing with sensitivities greater than that of a xeroderma pigmentosum (XP) variant strain but less than those of ataxia telangiectasia and XP Group D cell strains. The inhibition and recovery of de novo DNA synthesis, together with the expression of repair synthesis, following 4NQO exposure appeared to be normal in HCMM/DNS strains, irrespective of their subsequent clonogenic potential. The data point to a metabolic anomaly which may contribute to the carcinogenic risk of the melanoma prone preneoplastic state presented by some DNS patients
Tang, Jean Y; Chiou, Albert S; Mackay-Wiggan, Julian M; Aszterbaum, Michelle; Chanana, Anita M; Lee, Wayne; Lindgren, Joselyn A; Raphael, Maria Acosta; Thompson, Bobbye J; Bickers, David R; Epstein, Ervin H
Sporadic human basal cell carcinomas (BCC) are generally well managed with current surgical modalities. However, in the subset of high-risk patients predisposed to developing large numbers of BCCs, there is an unmet need for effective, low-morbidity chemoprevention. This population includes fair-skinned patients with extensive sun exposure and those with genodermatoses such as the basal cell nevus (Gorlin) syndrome (BCNS). Tazarotene (Tazorac, Allergan) is a topical retinoid with relative specificity for RAR-β and RAR-γ receptors. We previously demonstrated tazarotene's robust anti-BCC efficacy in Ptch1(+/-) mice, a murine equivalent of BCNS, and others have found it to have some efficacy against sporadic human BCCs. We report here results of a randomized, double-blind, vehicle-controlled study in patients with BCNS evaluating the efficacy of topically applied tazarotene for BCC chemoprevention (N = 34 subjects), along with an open-label trial evaluating tazarotene's efficacy for chemotherapy of BCC lesions (N = 36 subjects) for a maximum follow-up period of 3 years. We found that only 6% of patients had a chemopreventive response and that only 6% of treated BCC target lesions were clinically cured. Our studies provide no evidence for either chemopreventive or chemotherapeutic effect of tazarotene against BCCs in patients with BCNS.
Thielmann, H W; Edler, L; Brucker, A; Jung, E G
DNA repair capacity of 18 fibroblast strains from patients with dysplastic nevus syndrome, 5 of them with malignant melanoma, was investigated and their colony-forming ability (D0) after UV exposure was determined as a measurement of this. Seventeen fibroblast strains from normal donors served as controls. The dose/response experiments included up to 11 dose levels and two UV wavelength ranges: UV-C (using a low-pressure mercury lamp emitting predominantly 254-nm light) and UV-B (artificial "sunlamp" radiation centering around 312-nm light). The exponential segments of the dose/response curves were analysed by linear regression and the negative reciprocals of the regression coefficients, D0, were calculated for each cell strain and each wavelength range. When comparing D0 values of individual cell strains from patients with and without melanomas with the mean value for all normal donors, only 4 out of 18 showed increased sensitivity towards UV-B. This difference, however, was not statistically significant. On the contrary, weighted-mean D0 values for fibroblast strains from patients with and without melanoma were found to be slightly but significantly higher than those for normal donors (significance level: 5%), indicating that cell strains from these patients were less sensitive to UV light (UV-C and UV-B) of both wavelength. This result, which on the basis of current literature data is somewhat unexpected, holds true within the limits of experimental accuracy of +/- 12%.
Applegate, L.A.; Goldberg, L.H.; Ley, R.D.; Ananthaswamy, H.N.
Basal cell nevus syndrome (BCNS) is an autosomal dominant genetic disorder in which the afflicted individuals are extremely susceptible to sunlight-induced skin cancers, particularly basal cell carcinomas. However, the cellular and molecular basis for BCNS is unknown. To ascertain whether there is any relationship between genetic predisposition to skin cancer and increased sensitivity of somatic cells from BCNS patients to killing by UV radiation, we exposed skin fibroblasts established from unexposed skin biopsies of several BCNS and age- and sex-matched normal individuals to either UV-B (280-320 nm) or UV-C (254 nm) radiation and determined their survival. The results indicated that skin fibroblasts from BCNS patients were hypersensitive to killing by UV-B but not UV-C radiation as compared to skin fibroblasts from normal individuals. DNA repair studies indicated that the increased sensitivity of BCNS skin fibroblasts to killing by UV-B radiation was not due to a defect in the excision repair of pyrimidine dimers. These results indicate that there is an association between hypersensitivity of somatic cells to killing by UV-B radiation and the genetic predisposition to skin cancer in BCNS patients. In addition, these results suggest that DNA lesions (and repair processes) other than the pyrimidine dimer are also involved in the pathogenesis of sunlight-induced skin cancers in BCNS patients. More important, the UV-B sensitivity assay described here may be used as a diagnostic tool to identify presymptomatic individuals with BCNS
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.
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.
Mônica Andrade Lotufo
Full Text Available El nevus blanco esponjoso (NBE es una rara condición autosómica dominante, caracterizada por placas blancas bilaterales en la mucosa, de aspecto esponjoso, blandas a la palpación y que pueden escamarse. Los tratamientos son paliativos; y el uso de antibióticos, en especial la tetraciclina, ha demostrando buenos resultados en su control. Este trabajo presenta tres casos clínicos de una familia afectada por NBE, donde se discuten los posibles diagnósticos diferenciales y conductas terapéuticas indicadas. Un paciente masculino de 52 años de edad acudió a la clínica aquejado de lesiones blancas bilaterales. El paciente notó las lesiones 30 años antes, sin lograr un diagnóstico final de las mismas. Después de la anamnesis y del examen clínico fue realizada una biopsia incisional. La reunión de los datos clínicos e histopatológicos llevó al diagnóstico de NBE. Se le solicitó al paciente que indagase entre sus familiares con respecto a lesiones semejantes. Se detectó que el hijo de 19 años y la hija de 25 eran portadores de placas blancas en la mucosa yugal. Como no había afectación estética, se optó por no intervenir en las lesiones. El nevus blanco esponjoso es una lesión genética que debe ser diferenciada de otras patologías localizadas y sistémicas importantes, que tienen repercusiones serias para el individuo. Como no hay un tratamiento curativo para el NBE, el papel del cirujano dentista es diagnosticar esta lesión, aclarar al paciente sobre la naturaleza benigna y autolimitante del NBE y si fuera necesario desde el punto de vista estético, aplicar diferentes modalidades terapéuticas.
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.
Qu-Knafo, Lise; Le Du, Brivael; Boumendil, Julien; Nordmann, Jean-Philippe
We report the first description of temporalis fascia autograft to repair a late leakage bleb with scleral defect that occurred long time after trabeculectomy with mitomycin C. A 65-year-old woman was referred to our hospital with chronic late bleb leakage on her right eye. She had previously undergone a trabeculectomy with mitomycin C 3 years ago for a pigmentary glaucoma. Bleb leakage occurred 1½ year after the initial surgery. She underwent 2 surgical revisions consisting of a conjunctival advancement then an autologous conjunctival with partial scleral grafts without success. The initial best-corrected visual acuity of the right eye was 20/50 (Snellen scale). Slit-lamp examination revealed an avascular filtering bleb with leakage (massive positive Seidel test) and a scleral defect. The anterior chamber was deep and intraocular pressure (IOP) was 9 mm Hg.Faced with the risk of blebitis, endophthalmitis, and with the failure of the previous surgeries announced earlier, a surgical revision with autologous superficial temporalis fascia graft was decided to repair the leaking bleb. After local anesthesia, a sample of superficial temporalis fascia was harvested. The necrotic avascular conjunctiva around the bleb was dissected to separate and excise it from the sclera. The autologous fascia graft was sutured on the scleral defect with 10-0 nylon. Subsequently healthy conjunctiva was sutured above the graft. No bleb leakage occurred postoperatively, best-corrected visual acuity improved to 20/25, and IOP remained within normal levels 6 months after surgery without IOP-lowering medication. Superficial temporalis fascia autograft seems to be an effective, safe, and easy technique for ophthalmologists. It is a new procedure in the management of late-onset bleb leakage.
A. S. Ol’shanskaya
Full Text Available Neurofibromatosis type 1 (NF-1 is a hereditary disease mainly affecting skin and peripheral nervous system. Individual signs of cutaneous manifestations of NF-1 can imitate or be combined with other neurocutaneous syndromes. At present on the outpatient phase is not always possible to conduct a detailed examination of the patients with NF-1 and to determine the indications for modern diagnostic examination in a specialized hospital. It can be important to verify the diagnosis. The authors presented short review of russian and foreign literature and clinical case of the patient with a specific lesion of the skin against the background of congenital giant melanocytic nevus. Problems of differential diagnosis of NF-1 and congenital giant pigmented nevus were analyzed.
Fertig, Raymond M; Berghoff, Adar; Cervantes, Jessica; Darwin, Evan; Jukic, Drazen
Benign melanocytic neoplasms present with a diverse array of well-known histopathologic patterns. It is imperative to recognize the benign patterns to render accurate diagnoses. We describe here an interesting and hitherto not described low-power architectural pattern of a benign melanocytic lesion: eccrine-centric melanocytic nevus. The patient was a 50-year-old African American woman who noticed a new mole on her foot that began as a dark speck but quickly grew larger. The lesion was excised to exclude the possibility of melanoma. Upon review of the specimen, the lesion was noted to demonstrate a distinctive pattern consistent with a melanocytic nevus of possible congenital onset. Remarkably, the ducts of eccrine glands were increased in density and the nests of melanocytes were found solely in a peri-eccrine distribution without melanocytes in any other locations (ie, interstitial, perifollicular). Additionally, all melanocytes in the nevus were rather heavily pigmented. Although this pattern demonstrated no atypical features that would cause one to consider it malignant to the trained eye, this presentation could implicate a metastatic disease (well-delineated nests in the dermis without concomitant interstitial component) and it is important to recognize.
... Additional NIH Resources (1 link) National Cancer Institute: What is Melanoma Educational Resources (10 links) Children's Hospital of Philadelphia: ... Large congenital melanocytic nevus Seattle Children's Hospital: Birthmarks What is a Large/Giant Congenital Melanocytic ... Organization for Rare Disorders (NORD) Nevus Outreach ...
Full Text Available Organoid nevi may rarely be complicated by development of keratoacanthoma. We report a 21-year old man who presented with a hyperkeratotic papule developing over a well demarcated hyperpigmented irregular plaque on the forehead. Histopathology revealed features suggestive of keratoacanthoma developing in a lesion of nevus sebaceous. Literature search revealed 11 such reported cases. Most of the reported patients were young and had lesions on the face. Such lesions should be excised completely to prevent any malignant change in the future.
Full Text Available Intracranial invasion of cellular blue nevus (CBN from the skin is extremely rare and such a condition with malignant transformation is even rarer.A case of meningeal melanoma with malignant transformation which was derived from an Ota nevus is presented in this report. A21-year-old man with a neurocutaneous syndrome since childhood was referred with headache and mild left hemiparesia. CT scan and MRI demonstrated intracranial lesions and conjunctival biopsy leads to the pathologic diagnosis of blue nevus.Thereafter his parietal lesion was operated by craniotomy with total gross excision.On histopathological examination, diagnosis of malignant melanoma was confirmed.Approximately 2 months after radiotherapy and chemotherapy, he afflicted to diplopia and blurred vision on the leftside due to enlargement of orbital and cavernous sinus lesion. Following one year follow-up,he was survived and thrived with diffuse leptomeningeal nodular enhancement in favor of melanoma dissemination.Primary intracranial melanomas are though rare, but it should be suspected especially in the presence of periorbital blue nevus or nevus of Ota. Moreover, although CBN is considered benign, scalp or periorbital CBN has the potential for intracranial invasion and malignant ransformation.
Mônica Andrade Lotufo
Full Text Available El nevus blanco esponjoso (NBE es una rara condición autosómica dominante, caracterizada por placas blancas bilaterales en la mucosa, de aspecto esponjoso, blandas a la palpación y que pueden escamarse. Los tratamientos son paliativos; y el uso de antibióticos, en especial la tetraciclina, ha demostrando buenos resultados en su control. Este trabajo presenta tres casos clínicos de una familia afectada por NBE, donde se discuten los posibles diagnósticos diferenciales y conductas terapéuticas indicadas. Un paciente masculino de 52 años de edad acudió a la clínica aquejado de lesiones blancas bilaterales. El paciente notó las lesiones 30 años antes, sin lograr un diagnóstico final de las mismas. Después de la anamnesis y del examen clínico fue realizada una biopsia incisional. La reunión de los datos clínicos e histopatológicos llevó al diagnóstico de NBE. Se le solicitó al paciente que indagase entre sus familiares con respecto a lesiones semejantes. Se detectó que el hijo de 19 años y la hija de 25 eran portadores de placas blancas en la mucosa yugal. Como no había afectación estética, se optó por no intervenir en las lesiones. El nevus blanco esponjoso es una lesión genética que debe ser diferenciada de otras patologías localizadas y sistémicas importantes, que tienen repercusiones serias para el individuo. Como no hay un tratamiento curativo para el NBE, el papel del cirujano dentista es diagnosticar esta lesión, aclarar al paciente sobre la naturaleza benigna y autolimitante del NBE y si fuera necesario desde el punto de vista estético, aplicar diferentes modalidades terapéuticas.The aim of present paper is to introduce three clinical cases from a family affected from nevus spongiosus albus (NSA and also to discuss the possible differential diagnoses as well as the therapeutical behaviors to be adopted. Clinical case: A man aged 52 seen in our clinic due to bilateral white lesions noted 30 years ago without
Cebral, Juan R.; Radaelli, Alessandro; Frangi, Alejandro; Putman, Christopher M.
We investigate whether blebs in cerebral aneurysms form in regions of low or high wall shear stress (WSS), and how the intraaneurysmal hemodynamic pattern changes after bleb formation. Seven intracranial aneurysms harboring well defined blebs were selected from our database and subject-specific computational models were constructed from 3D rotational angiography. For each patient, a second anatomical model representing the aneurysm before bleb formation was constructed by smoothing out the bleb. Computational fluid dynamics simulations were performed under pulsatile flow conditions for both models of each aneurysm. In six of the seven aneurysms, the blebs formed in a region of elevated WSS associated to the inflow jet impaction zone. In one, the bleb formed in a region of low WSS associated to the outflow zone. In this case, the inflow jet maintained a fairly concentrated structure all the way to the outflow zone, while in the other six aneurysms it dispersed after impacting the aneurysm wall. In all aneurysms, once the blebs formed, new flow recirculation regions were formed inside the blebs and the blebs progressed to a state of low WSS. Assuming that blebs form due to a focally damaged arterial wall, these results seem to indicate that the localized injury of the vessel wall may be caused by elevated WSS associated with the inflow jet. However, the final shape of the aneurysm is probably also influenced by the peri-aneurysmal environment that can provide extra structural support via contact with structures such as bone or dura matter.
Ma, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun
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.
MA, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun
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
... 4 gene causing white sponge nevus in a Japanese family. Int J Oral Maxillofac Surg. 2013 May; ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...
Full Text Available Background: Melanocytic nevus is a rare occurrence in the tarsal conjunctiva and only 7 well-described cases have been reported previously in the English literature. Case Report: The medical records of 4 patients with tarsal conjunctival melanocytic nevus were reviewed, together with the relevant literature. All patients (3 women and 1 man; age range: 17 - 40 years had been referred with a suspicion of melanoma. There was one tarsal nevus in the lower eyelid in 3 patients and 2 nevi in the upper eyelid in 1 patient. All lesions were darkly pigmented with irregular borders and were associated with a history of a recent growth in size. An intralesional cyst was present in 1 nevus only. After surgical excision, no recurrence or complication occurred during the follow-up period (range: 7 - 48 months. Conclusion: Tarsal melanocytic nevus has been described in detail in 11 cases, including these 4 cases, in the English literature. The lesion arose from the lower eyelid in all cases except one. Tarsal melanocytic nevi may frequently display clinical features suggesting melanoma, such as advanced patient age, recent growth, dark and irregular pigmentation, nodularity, hypervascularity, and the absence of an intralesional cyst. After total excision, nevus recurrence or malignant trans-formation has not been reported.
Full Text Available Fredric J Gross, Giovanni DiSandro Department of Ophthalmology, Eastern Virginia Medical School, Norfolk, VA, USA Abstract: Globe luxation is a painful and potentially vision-threatening condition in which the globe becomes trapped behind the eyelids requiring physician intervention in the emergency department or eye clinic. On presentation, the patient typically complains of an inability to close their eye, severe foreign body sensation, decreased vision, and significant eye pain. Although most visual symptoms are reversible and primarily result from exposure keratopathy, optic nerve damage, and permanent vision loss can occur from repeat or prolonged episodes of globe luxation. Risk factors include any congenital or acquired conditions that displace the globe anteriorly in the orbit and increased eyelid laxity that allows the globe to prolapse through the lid aperture. Typically, the precipitating event involves eyelid retraction during ophthalmic examination or an event that increases intraorbital pressure such as coughing or sneezing. Once the globe has luxated, the condition is typically worsened by blepharospasm and patients’ attempts to close the eye that worsen the entrapment. In the current case, the patient had a large superotemporal filtering bleb following Ahmed valve surgery for uncontrolled glaucoma. While instilling her glaucoma medication, she retracted her eyelids sufficiently to pull the upper lid over her filtering bleb where it became entrapped causing a similar presentation to globe luxation. Traditional methods of repositioning the globe were unsuccessful. Bleb needling was ultimately required to return the globe to a normal position. Keywords: luxation, globe, glaucoma
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.
... Uveitis Focus On Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center ... Glaucoma Education Center Pediatric Ophthalmology Education Center Oculofacial Plastic ... Center Laser Surgery Education Center Redmond Ethics Center ...
Sprague, Jessica; Landau, Joseph W
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. © 2016 Wiley Periodicals, Inc.
... visible large nevus . Reactions from the Inside Self Perception Because of the way they are treated, and/or the way they perceive themselves, a person with a large nevus may suffer from anxiety, ...
Woolley, Thomas E.
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.
Shihadeh, Wisam A; Ritch, Robert; Liebmann, Jeffrey M
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.
Hasse, C D; Zoutendam, G L; Gombas, O F
Blue nevus of the oral mucosa is a distinctly uncommon clincial entity. Careful review of the literature yielded thirty-one previously reported cases. The present article reports the occurrence of a blue nevus of the hard palate in a 58-year-old man. It is of interest since it is the smallest (1 by 1 mm.) intraoral blue nevus to be reported. A clinicopathologic study of the previous thirty-one cases and of our case suggests that this lesion has no age or sex predilection. The most common site of occurrence was the hard palate. There appears to be no tendency toward recurrence. A brief review of the historical background, clinical features, theories of possible origin, and differential diagnosis is presented. Excisional biopsy of localized areas of oral pibmentation, together with histopathologic study, is indicated to rule out melanoma.
Full Text Available Raised palmar or plantar nevus especially in white people is an unusual feature. We present an uncommon palmar compound nevus in a 26-year-old woman with a large diameter (6 mm which had a collaret-shaped margin. In histopathologic evaluation intralymphatic protrusions of nevic nests were noted. This case was surprising to us for these reasons: size, shape, location and histopathology of the lesion. Palmar nevi are usually junctional (flat and below 3 mm diameter and intra lymphatic protrusion or invasion in nevi is an extremely rare phenomenon.
Raff, M. (Vienna Univ. (Austria). 2. Hautklinik)
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''.
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.
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 21.7Â±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 (â‰¥0.7; six (42.9% presented a cup disc ratio â‰¤ 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.
El-Sawy, Tarek; Bakhoum, Mathieu F; Tetzlaff, Michael; Nasser, Qasiem J; Prieto, Victor G; Ivan, Doina; Sniegowski, Matthew C; Yin, Vivian T; Pan, Caroline; Durairaj, Vikram; Esmaeli, Bita
To describe 3 cases of primary orbital melanoma associated with either known or subsequently discovered cellular blue nevus. The clinical records and surgical specimens of 3 patients who underwent orbital exenteration for primary orbital melanoma and who had a cellular blue nevus diagnosed before or after detection of the melanoma were retrospectively reviewed. All 3 patients presented with signs and symptoms of an orbital mass. Subsequent biopsy revealed invasive melanoma. One patient had a known history of congenital cellular blue nevus of the eyelid from which the orbital melanoma originated. The other 2 patients had no known history of cutaneous pigmentation or blue nevus. In these 2 patients, the cellular blue nevus was detected on pathologic review of the orbital exenteration specimen (1 patient) or surgical biopsy specimen (1 patient). All 3 patients underwent total body positron emission tomography/computed tomography, and in all 3 results were negative for other sites of disease involvement. In the 2 patients without a previously known nevus a total body skin check was negative for other primary melanoma lesions. All 3 patients underwent orbital exenteration followed by postoperative radiation therapy. Thorough evaluation of biopsy specimens of "primary" orbital melanoma is warranted to ensure identification of any associated blue nevus because blue nevi are precursor lesions for orbital melanoma, and the presence of a blue nevus would support a primary orbital melanoma rather than a metastatic lesion. Patients with a known blue nevus of the periocular skin and ocular adnexa should be monitored closely for signs of malignant transformation.
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.
Mayuri B Khamar
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.
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.
... that satellite nevi rarely, if ever, develop melanoma. What are the signs of melanoma? Changes in size, color, surface texture, pain, bleeding, ... may arise deeper in a larger nevus. If melanoma is suspected, usually a small sample of the mole is removed and sent ... should be done about a congenital nevus? It's ...
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 clinical features along with histopathological study of 20 cases of nevus sebaceus. Methods We selected 20 cases of nevus sebaceous for the study. Results Clinically,verrucous plaques were seen in 60% patients, papules were seen in 25% patients and patches were seen in 15% patients. All of them showed abortive/immature hair follicles characterized by cords of undifferentiated, basaloid cells resembling the embryonic stages of hair follicle. Conclusions To conclude, NS is an organoid nevus, i.e a hamartoma consisting of various elements indigenous to the organ and not merely the sebaceous units.
Shiga, Takeo; Nakajima, Kimiko; Tarutani, Masahito; Izumi, Miki; Tanaka, Masaru; Sano, Shigetoshi
An 11-year-old girl presented to our department with a blue-gray papule approximately 4 mm in diameter. We suspected that it was a blue nevus or a pigmented Reed/Spitz nevus. On dermoscopic observation, the lesion showed homogeneous black-bluish pigmentation. This dermoscopic feature was suggestive of a blue nevus. However, near-circumferential streaks and a global feature of a "starburst pattern" were also observed, as is often found in a Reed/Spitz nevus. The lesion was excised and histological examination revealed spindle cells with melanin pigments diffusely present in the upper dermis and around hair follicles in the mid-dermis, but not in the epidermis. The melanocytic cells were arranged in a symmetrical wedge-shaped configuration. In addition, there was a diffuse fibrosis. Finally, we made a diagnosis of a blue nevus based on these findings.
Elias J. Farran
Full Text Available Prostatic blue nevus is a rare benign pathologic diagnosis most commonly diagnosed incidentally on many different types of prostate specimens. Blue nevus is the deposition of stromal melanin characterized by spindle cells within the fibromuscular stroma which stains positive for melanin-specific stains Fontana-Masson and S100 and stains negative for CD68, HMB45, and iron stains. We report the case of a multifocal and bilateral blue nevus in a 52-year-old Hispanic male who presented with an elevated prostate-specific antigen of 4.3 and mild obstructive lower urinary tract symptoms, found by transrectal ultrasound-guided prostate needle biopsy. The biopsy also revealed benign prostatic tissue with postatrophic hyperplasia and chronic inflammation. This is the 35th reported case of prostatic blue nevus and the third to show multifocal blue nevus.
Martin-Gorgojo, Alejandro; Llinares, Marta; Virós, Amaya; Requena, Celia; Garcia-Casado, Zaida; Traves, Víctor; Kumar, Rajiv; Nagore, Eduardo
There are at least two pathways driving cutaneous melanoma; one is linked to an inherent melanoma susceptibility to nevi development and the second to environmental cumulative ultraviolet light exposure. In this study, we examined the relation between nevus density, accrued sun damage and the site of primary melanoma excision. In a series of 888 consecutive cutaneous melanoma patients, melanomas appearing in skin areas with a high relative nevus density were most prominent in men, with an elevated nevus count, at sites without solar elastosis, but with an epidemiological history of previous sunburn. The present study associates melanoma development to sites with high nevus density. Our study supports more careful surveillance of body areas with increased nevus density in patients with high total body number of nevi, especially when they report a history of sunburns at these sites.
Fábio A. S. Lima
Full Text Available O nevus composto do colo uterino representa um achado muito raro. Relatos excepcionais de lesões melanocíticas benignas e malignas da endo e exocérvice uterina têm sido publicados. Relatamos o achado ocasional do nevus composto da exocérvice uterina em uma paciente de 47 anos de idade que não apresentava queixas ginecológicas. O diagnóstico foi sugerido pelo exame colposcópico e confirmado à histopatologia. Devido à possibilidade de transformação maligna dessas lesões e à dificuldade de seguimento da paciente, o tratamento foi concluido com a realização de histerectomia total abdominal.Compound nevus of the uterine cervix is very rare. Benign and malignant melanotic lesions of endo and exocervix have been rarely documented. The present case of compound nevus in the uterine exocervix was found in a 47-year-old woman without gynecologic complaints. Diagnosis was suspected by colposcopic evaluation and confirmed trough histopathological examination. The treatment was concluded with total abdominal hysterectomy based on the possible malignant transformation of these lesions and the difficult patient follow-up.
Ou-Yang, Ping-Bo; Qi, Xin; Duan, Xuan-Chu
The giant filtering bleb encroaching onto the corneal surface is a rare occurrence in our and other's clinical experience (Kapoor and Syed, Int. Ophthalmol 31(5):403-404, 2011), even in patients having had a trabeculectomy with mitomycin C, and how it developed is debated. In this paper, we report a patient who developed a huge overhanging filtering bleb after trabeculectomy, and present our intraoperative photographs, histopathology and immunohistochemistry results. A 62-year-old female visited our hospital due to the giant filtering bleb encroaching onto the corneal surface which was about 6 mm × 8 mm × 3 mm. We dissected the filtering bleb from the cornea and present the histopathology and immunohistochemistry results of it. The results from histopathology and immunohistochemistry in this study are consistent with the filtering cicatrix hypothesis. However, our finding that the overhanging blebs had tight connections with the corneal tissue or corneoscleral limbus, rather than simply leaning on it, might be highly related to their development and still needs to be further studied.
Full Text Available Cells migrate by extending pseudopods such as lamellipodia and blebs. Although the signals leading to lamellipodia extension have been extensively investigated, those for bleb extension remain unclear. Here, we investigated signals for blebbing in Dictyostelium cells using a newly developed assay to induce blebbing. When cells were cut into two pieces with a microneedle, the anucleate fragments vigorously extended blebs. This assay enabled us to induce blebbing reproducibly, and analyses of knockout mutants and specific inhibitors identified candidate molecules that regulate blebbing. Blebs were also induced in anucleate fragments of leukocytes, indicating that this assay is generally applicable to animal cells. After cutting, microtubules in the anucleate fragments promptly depolymerized, followed by the extension of blebs. Furthermore, when intact cells were treated with a microtubule inhibitor, they frequently extended blebs. The depolymerization of microtubules induced the delocalization of inositol lipid phosphatidylinositol 3,4,5-trisphosphate from the cell membrane. PI3 kinase-null cells frequently extended blebs, whereas PTEN-null cells extended fewer blebs. From these observations, we propose a model in which microtubules play a critical role in bleb regulation via inositol lipid metabolism.
Full Text Available "nThe most common cause of failure during the first trimester after trabeculectomy is encapsulated bleb and needling bleb revision is a less invasive method in the management of refractory cases. The purpose of this study is to determine the efficacy and safety of mitomycin-C (MMC augmented bleb revision of failed filtration surgery. This study is a before-after (paired observation. 33 patients with failed trabeculectomy because of bleb encapsulation, whose intraocular pressure (IOP was not reduced under 21 mmHg despite of medications and digital massage , underwent needling bleb revision and subconjunctival injection of 0.1 ml MMC (0.4 mg/ml.The mean follow-up time was 9.24 ± 5.27 months (1-20 months. Statistical analysis of the data included the paired two-tailed Student's t test for preoperative and postoperative IOP and number of medications. 36 needling procedures (mean, 1.09 ± 0.21 revisions per eye were performed on 33 eyes. Patients were between 10-80 years old (mean, 45.67 ± 22.41 years and mean follow-up was 9.24 ± 5.27 months. IOP decreased from 29.06 ± 5.03 mmHg to 18.21 ± 6.76 mmHg at last follow-up (P= 0.000. Antiglaucoma medications decreased from 2.18 ± 0.58 to 1.36 ± 0.29 at last follow-up (P= 0.000.Overall, 6 (18.2% of 33 cases achieved a complete success and 20 (60.6% of cases achieved a qualified success. The complications of this procedure were subconjunctival hemorrhage (17 cases, hyphema (5 cases and conjunctival button hole (2 cases. Needling bleb revision with mitomycin-C appears to be an effective and relatively safe way to revive failed filtration surgery.
Olate-Pérez, Á; Pérez-Torregrosa, V T; Gargallo-Benedicto, A; Neira-Ibáñez, P; Cerdà-Ibáñez, M; Osorio-Alayo, V; Barreiro-Rego, A; Duch-Samper, A
To qualitatively analyse the evolution of filtering blebs after XEN surgery, by using anterior segment optical coherence tomography (AS-OCT). A prospective study was performed on filtering blebs of 30 eyes with cataracts and glaucoma, surgically operated on using phacoemulsification and XEN45 implantation (PHACO-XEN). AS-OCT was used to analyse bleb morphology and reflectivity at 3, 6, and 12 months after surgery. Functionality was studied considering an intraocular pressure (IOP)≤18mmHg without antihypertensive medication. The IOP enabled the blebs to be classified into non-functional: flat (6.67%) and encapsulated (3.33%); and functional (90%), which were then divide by their morphology into cystic (5/27), diffuse (2/27), and layered (20/27). Cystic types had a mean IOP of 12.8, 12.6, and 14.0mmHg at 3, 6 and 12 months, respectively. In the diffuse type, the mean IOP was 13.0, 11.5 and 13.0mmHg at 3, 6 and 12 months, respectively. In the layers pattern the mean IOP was 14.45, 14.55 and 14.8mmHg at 3, 6 and 12 months respectively. The percentage of blebs with high reflectivity was 48.15%, 62.96%, and 77.78%, at 3, 6 and 12 months, with a mean IOP of 14.23, 14.59, and 15.14mmHg in each time period, respectively. AS-OCT could be a good predictor of bleb functionality in PHACO-XEN surgery. Those with a cystic pattern or low reflectivity seem to have better post-operative success. Nevertheless, more long-term studies are required. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.
Quintella, Claudia; Janson, Guilherme; Azevedo, Luciana Reis; Damante, José Humberto
An undesirable effect of fixed orthodontic appliances is irritation of the oral mucosa. Lesions are common, but they usually heal quickly because of the fast metabolism of oral mucosa cells. Alterations accompanying some injuries are temporary, but some are irreversible because of attrition. White sponge nevus constitutes a special situation, and little information about it is available in the orthodontic literature. This report presents a patient with white sponge nevus who received orthodontic treatment over a 40-month period. The condition was also noted in a sibling. Because of the similarity between white sponge nevus and other diseases, including some that are malignant, a thorough clinical history and differential diagnosis are essential.
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
Lata M Kale
Full Text Available Congenital melanocytic nevi (CMN are visible hyperpigmented (melanocytic, benign, tumor like proliferations in the skin resulting from faulty development of pigment cell precursors in the embryo, and are composed of an abnormal mixture of skin elements. Giant congenital melanocytic nevus (GCMN is usually defined as a melanocytic lesion present at birth that will reach a larger size in adulthood. GCMN is a rare variety of CMN which is characterized by its size (diameter ≥20 cm and the potential for malignant transformation. It is infrequently associated with other findings, which makes the clinical picture complex. In this case, we report a rare association of GCMN with intraoral blue nevus in a 24-year-old male patient.
Spangler, E. J.; Harvey, C. W.; Revalee, J. D.
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...
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.
... or Giant Congenital Melanocytic Nevus are not hereditary, meaning you did not "pass it on" to your ... are the signs of melanoma? Changes in size, color, surface texture, pain, bleeding, or itching are all ...
Pernet, C; Munoz, J; Bessis, D
PENS is a rare neuro-cutaneous syndrome that has been recently described. It involves one or more congenital epidermal hamartomas of the papular epidermal nevus with "skyline" basal cell layer type (PENS) as well as non-specific neurological anomalies. Herein, we describe an original case in which the epidermal hamartomas are associated with autism spectrum disorder (ASD). A 6-year-old boy with a previous history of severe ASD was referred to us for asymptomatic pigmented congenital plaques on the forehead and occipital region. Clinical examination revealed a light brown verrucous mediofrontal plaque in the form of an inverted comma with a flat striated surface comprising coalescent polygonal papules, and a clinically similar round occipital plaque. Repeated biopsies revealed the presence of acanthotic epidermis covered with orthokeratotic hyperkeratosis with occasionally broadened epidermal crests and basal hyperpigmentation, pointing towards an anatomoclinical diagnosis of PENS. A diagnosis of PENS hamartoma was made on the basis of the clinical characteristics and histopathological analysis of the skin lesions. This condition is defined clinically as coalescent polygonal papules with a flat or rough surface, a round or comma-like shape and light brown coloring. Histopathological examination showed the presence of a regular palisade "skyline" arrangement of basal cell epidermal nuclei which, while apparently pathognomonic, is neither a constant feature nor essential for diagnosis. Association of a PENS hamartoma and neurological disorders allows classification of PENS as a new keratinocytic epidermal hamartoma syndrome. The early neurological signs, of varying severity, are non-specific and include psychomotor retardation, learning difficulties, dyslexia, hyperactivity, attention deficit disorder and epilepsy. There have been no reports hitherto of the presence of ASD as observed in the case we present. This new case report of PENS confirms the autonomous nature
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; Puig, Susana; Bataille, Veronique
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 prognostic factors such as lower Breslow thickness, less ulceration and lower mitotic rate, despite adjustment for age. Nevus count was not predictive of sentinel node status. The crude 5- and 10-year melanoma-specific survival rate was higher in melanomas cases with a high nevus count compared to those with a low nevus count (91.2 vs. 86.4% and 87.2 vs. 79%, respectively). The difference in survival remained significant after adjusting for all known melanoma prognostic factors (hazard ratio [HR] = 0.43, confidence interval [CI] = 0.21-0.89). The favorable prognostic value of a high nevus count was also seen within the positive sentinel node subgroup of patients (HR = 0.22, CI = 0.08-0.60). High nevus count is associated with a better melanoma survival, even in the subgroup of patients with positive sentinel lymph node. This suggests a different biological behavior of melanoma tumors in patients with an excess of nevi. © 2015 The Authors. Published by Wiley Periodicals, Inc. on behalf of UICC.
Sujit A Jagtap
Full Text Available Sturge-Weber syndrome (SWS is a rare, sporadic neurocutaneous syndrome characterized by a classical triad of facial port wine nevus, ipsilateral leptomeningeal angiomatosis (LAM and glaucoma. The incidence of SWS is 1/50,000 live births, although it is more often underreported. The incidence of SWS without facial nevus is not known, although very few patients without facial nevus have been reported. In these patients, the diagnosis of SWS is made by the findings of computed tomography, magnetic resonance imaging, and histopathology. Here, we report three patients with SWS from our cohort of 28 patients with SWS without facial nevus and discuss their clinical profile and outcome.
Woolley, Thomas E.; Gaffney, Eamonn A.; Goriely, Alain
If the plasma membrane of a cell is able to delaminate locally from its actin cortex, a cellular bleb can be produced. Blebs are pressure-driven protrusions, which are noteworthy for their ability to produce cellular motion. Starting from a general continuum mechanics description, we restrict ourselves to considering cell and bleb shapes that maintain approximately spherical forms. From this assumption, we obtain a tractable algebraic system for bleb formation. By including cell-substrate adhesions, we can model blebbing cell motility. Further, by considering mechanically isolated blebbing events, which are randomly distributed over the cell, we can derive equations linking the macroscopic migration characteristics to the microscopic structural parameters of the cell. This multiscale modeling framework is then used to provide parameter estimates, which are in agreement with current experimental data. In summary, the construction of the mathematical model provides testable relationships between the bleb size and cell motility.
Sakamoto, Michiharu; Morimoto, Naoki; Jinno, Chizuru; Mahara, Atsushi; Ogino, Shuichi; Suzuki, Shigehiko; Kusumoto, Kenji; Yamaoka, Tetsuji
We report a novel treatment for giant congenital melanocytic nevi (GCMN) that involves the reuse of resected nevus tissue after high hydrostatic pressurization (HHP). However, the remaining melanin pigments in the inactivated nevus tissue pose a problem; therefore, we performed a long-term observation of the color change of inactivated nevus tissue after HHP. Pressurized nevus specimens (200 MPa group, n = 9) and non-pressurized nevus tissues (control group, n = 9) were subcutaneously implanted into nude mice (BALB/c-nu) and then harvested 3, 6, and 12 months later. Color changes of the nevus specimens were evaluated. In the 200 MPa group, the specimen color gradually regressed and turned white, and brightness values were significantly higher in the 200 MPa group than in the control group after 6 months. This indicated that melanin pigments in the pressurized nevus tissue had spontaneously degraded and regressed. Therefore, it is not necessary to remove melanin pigments in HHP-treated nevus tissue.
Ahmed, N.; Salman, M.; Mansoor, M.A.
Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)
Mancianti, M L; Herlyn, M; Weil, D; Jambrosic, J; Rodeck, U; Becker, D; Diamond, L; Clark, W H; Koprowski, H
Nevus cells were isolated from the three cutaneous components, epidermis, basal layer, and dermis, of nonmalignant pigmented lesions and were cultured separately in the presence or absence of the phorbol ester 12-0-tetradecanoyl phorbol-13-acetate in medium that supports the rapid proliferation of melanocytic cells. The separation procedure used provided cultures that were essentially free from normal melanocytes (dermis) or fibroblasts (epidermis). In short term culture, nevus cells of all skin compartments expressed markers associated with differentiated melanocytes, such as presence of premelanosomes and melanosomes and elevated tyrosinase levels. Nevus cells also expressed melanoma-associated antigens, such as NGF-receptor, transferrin-related p97, proteoglycan, and HLA-DR as detected with monoclonal antibodies. After several subpassages, cells showed a decreased expression of melanoma-associated antigens, decreased tyrrosinase levels, and melanosomes could no longer be detected. Morphologically, these cells were similar to fibroblasts. The disappearance of melanoma-associated cell surface antigens was concomitant with the appearance of a melanocyte-associated 145 kd protein that might serve as a marker of fibroblast-like differentiation in nevus cells and normal melanocytes. Nevus cell cultures grown in the presence of 12-0-tetradecanoyl phorbol-13-acetate maintained a stable differentiated phenotype throughout their lifespan. As reported earlier, nevus cells in culture, irrespective of the presence or absence of 12-0-tetradecanoyl phorbol-13-acetate, have a finite lifespan in vitro, grow anchorage-independent in soft agar, but do not form tumors when xenografted to nude mice. These studies demonstrate that nevus cells isolated from the epidermal, basal layer, and dermal components of lesional skin can serve as models to characterize the initial steps of tumor progression in a human cell system.
Full Text Available Eighty-year-old male patient was admitted to our policlinic with stinging, burning and itching in both eyes. Ophthalmological examination revealed avascular undesired bleb that releated with anterior chamber at 2-3 hour quadrant nasal limbus with the surrounding corneal and conjunctival epithelium was vascularized and the dimension was 3x3x3 mm. Towards these findings, we questioned the patient again and we found that, 40 years ago, a broken part of the shaving razor had injured his eye. After penetrating injury of the eye, because of the sutured wound leakage, undesired bleb formations can be seen. We suggest that kind of patient shold be followed up to prevent late complications of penetrating injury.
... and subcutaneous tissue over the shoulder. The cyst proved to be a keratin cyst with a blue nevus in its wall. This is an example of a group of lesions known as nevus with cyst, a term applied to different types of cysts that are closely associated anatomically with a melanocytic nevus. Sudanese Journal of Dermatology Vol.
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.
Eslami, Yadollah; Fakhraie, Ghasem; Moghimi, Sasan; Zarei, Reza; Mohammadi, Masoud; Nabavi, Amin; Yaseri, Mehdi; Izadi, Ali
To evaluate the outcome of excisonal bleb revision in patients with failed Ahmed glaucoma valve (AGV). In total, 29 patients with uncontrolled intraocular pressure (IOP) despite of maximal tolerated medical therapy at least 6 months after AGV implantation were enrolled in this prospective interventional case series. Excision of fibrotic tissue around the reservoir with application of mitomycin C 0.02% was performed. IOP, number of glaucoma medications were evaluated at baseline and 1 week and 1, 3, 6, and 12 months postoperatively. Complete and qualified success was defined as IOP≤21 mm Hg with or without glaucoma medications, respectively. Intraoperative and postopervative complications were also recorded. Mean IOP was reduced from 30±4.2 mm Hg at baseline to 19.2±3.1 mm Hg at 12-month follow-up visit (Pglaucoma medications was decrease from 3.2±0.5 at baseline to 1.9±0.7 at 12-month follow-up (Pglaucoma surgeries were significantly associated with the failure of excisonal bleb revision. Excisional bleb revision could be considered as a relatively effective alternative option for management of inadequate IOP control after AGV implantation.
Full Text Available Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.
Full Text Available BACKGROUND After trabeculectomy, wound remodelling and fibrosis continues lifelong and can affect bleb filtration. Ethnicity plays an important role in wound healing. Wound modulation with Mitomycin C affects the morphology as well as long-term functional success of the bleb. The aim of the study is to assess the morphology of blebs 5 years post trabeculectomy using clinical methods (slit lamp biomicroscopy and Moorfields Bleb Grading System MBGS along with Anterior Segment Optical Coherence Tomography (ASOCT and to correlate it with its functional outcome. MATERIALS AND METHODS This prospective cross-sectional study evaluated 40 eyes of 30 patients who had undergone trabeculectomy with adjuvant mitomycin C and had a postoperative duration of 5 years or more. Following a comprehensive ophthalmic examination, grading of filtering bleb was performed using MBGS. Internal bleb morphology was imaged using AS-OCT. RESULTS At the time of surgery, the age of the patients ranged from 33-71 years. The average postoperative duration was 8.6 ± 3.3 years. Based on slit lamp biomicroscopy, we found that 47% of the total blebs were diffuse, 30% were cystic and 23% were flat. MBGS parameters were studied in relation to bleb type on slit lamp. Bleb height (p=0.001 and central bleb vascularity (p=0.010 were found to have statistically significant association. There is a statistically significant agreement between the bleb type on slit lamp examination and morphological classification based on AS-OCT at p<0.05 (p=0.000. We observed complete success in 90% of eyes and qualified success in 100%. IOP at the time of study was found to have negative correlation with total bleb height on AS-OCT (r: -0.3592; p=0.022909. CONCLUSION This case series with a long-term followup period showed that trabeculectomy augmented with Mitomycin C (MMC can achieve good long-term IOP control. The filtering bleb morphology using clinical methods (slit lamp biomicroscopy and MBGS and
Armstrong, S C; Shivell, L C; Ganote, C E
The hypothesis that irreversible ischemic injury is related to sub-sarcolemmal blebbing and an inherent osmotic fragility of the blebs was tested by subjecting isolated control and ischemically preconditioned (IPC) or calyculin A (CalA)-pretreated (protected) rabbit cardiomyocytes to ischemic pelleting followed by resuspension in 340, 170 or 85 mosmol medium containing trypan blue. At time points from 0-240 min, osmotic fragility was assessed by the percentage of trypan blue permeable cells. Membrane blebs were visualized with India ink preparations. Bleb formation, following acute hypo-osmotic swelling, developed by 75 min and increased with longer periods of ischemia. Osmotic fragility developed only after 75 min. Cells resuspended in 340 mosmol media did not form blebs and largely retained the ability to exclude trypan blue, even after 240 min ischemia. Although the latent tendency for osmotic blebbing preceded the development of osmotic fragility, most osmotically fragile cells became permeable without evident sarcolemmal bleb formation. The onset of osmotic fragility was delayed in protected cells, but protection did not reduce the bleb formation. It is concluded that blebbing and osmotic fragility are independent manifestations of ischemic injury. The principal locus of irreversible ischemic injury and the protection provided by IPC may lie within the sarcolemma rather than at sarcolemmal attachments to underlying adherens junctions.
Anmar M. Abdul-Rahman
Full Text Available Purpose: To report a case of inadvertent bleb formation presenting 18 months after pars plana M3 Molteno implant tube obstruction in a patient with mixed mechanism glaucoma. Materials and Methods: An 84-year-old Caucasian male with mixed mechanism glaucoma underwent slit-lamp examination, gonioscopy, colour anterior segment photography and anterior segment optical coherence tomography (AS-OCT. Results: An inadvertent bleb developed 18 months after pars plana implant tube re-positioning with a 6/0 Vicryl tie ligature. The bleb was located in the area anterior to the implant plate; it was characterised by a thin, transparent, avascular and multi-cystic wall, with a visible stoma at the posterior edge of the bleb. The bleb was functioning as demonstrated by an intraocular pressure of 6 mm Hg at presentation and a punctate fluorescein uptake pattern of the bleb wall. The bleb over the plate of the Molteno implant was non-functioning, likely secondary to tube obstruction by vitreous in the early postoperative period. AS-OCT showed a tract from the anterior chamber commencing at an entry wound through a corneal tunnel to the posterior stoma at the base of the inadvertent bleb. Conclusions: We hypothesise that the pathophysiologic factors resulting in an inadvertent bleb are a result of a combination of apoptosis, late-onset wound dehiscence and internal gaping of a centrally placed corneal wound. In addition, aqueous hydrodynamic factors may play a role.
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.
Jeong, Hyerin; Sung, Kyung Rim
To evaluate the clinical outcome of viscoelastics (VE, sodium hyaluronate)-augmented trabeculectomy (VAT, 66 eyes) and conventional trabeculectomy (CT, 57 eyes) for glaucomatous eyes. In the VAT group, half of the anterior chamber space was filled with VE via the paracentesis site at the end of CT and a balanced salt solution was injected into the anterior chamber. This procedure induced migration of VE from the anterior chamber into the bleb space; thus the bleb was elevated with underlying VE. Follow-up examinations were performed until 1 year after surgery. Success was defined as the attainment of an intraocular pressure (IOP) greater than 5 mmHg and less than 22 mmHg. If IOP was in the range of success without antiglaucoma medication, it was regarded as a complete success. The mean postoperative IOP was significantly lower in the VAT group at postoperative 1 day, 1 week, and 1 month. The complete success rate was significantly higher in the VAT group (89%) than in the CT group (75%), though the qualified success rate was not different between the two groups. The number of IOP-lowering medications at postoperative 1 year was significantly higher in the CT group (1.30 ± 1.08 vs. 0.73 ± 0.98, p = 0.003). Among postoperative procedures, laser suture lysis was required less frequently in the VAT group (p < 0.001). Placing VE within the bleb at the end of surgery may result in better IOP control and less need for IOP-lowering medication without any additional materials, cost, or time.
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.
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.
Chien, Jason L; Sioufi, Kareem; Surakiatchanukul, Thamolwan; Shields, Jerry A; Shields, Carol L
To review the prevalence, clinical features, imaging findings, cytogenetics, and risks and outcomes of choroidal nevus. Choroidal nevus is a benign melanocytic tumor, often discovered incidentally on ophthalmic examination. This lesion is generally well circumscribed and pigmented. The prevalence of choroidal nevus in postequatorial region in United States adults (≥40 years old) is approximately 5%. Choroidal nevus is associated with higher lifetime unopposed estrogen and greater BMI. In population-based evaluation, the mean nevus basal dimension is approximately 1.25 mm. Giant nevus (basal dimension ≥10 mm) carries greater risk for malignant transformation. Imaging modalities for evaluation of choroidal nevus include ultrasonography, fundus autofluorescence, and optical coherence tomography (OCT). Fluorescein angiography is occasionally employed to detect multifocal pinpoint leaks or choroidal neovascular membrane. Recently, OCT angiography demonstrated nevus with minimal overlying macular microvascular changes compared with melanoma. Cytogenetically, GNA11 or GNAQ mutations have been documented in uveal melanoma in 83% and in some cutaneous nevus subtypes. Further mutations lead to the development of melanoma at a rate of one of 8845 cases. Risk factors for transformation of nevus into melanoma are recalled by the mnemonic 'To find small ocular melanoma using helpful hints daily' representing thickness (T) more than 2 mm, subretinal fluid (F), symptoms (S) of flashes/floaters/blurred vision, orange (O) lipofuscin pigment, margin (M) less than 3 mm from optic disk, ultrasonographic hollowness (UH), halo (H) absence, and drusen (D) absence. The presence of three or more risk factors implies more than 50% chance for transformation to melanoma within 5 years. A new, online ocular oncology reading center can help judge nevus risk. Choroidal nevus is a common intraocular lesion, found predominantly in Whites. This mass carries a small risk (<1%) for
Hinojosa, Laura Soto; Holst, Manuel; Baarlink, Christian; Grosse, Robert
Entosis is a nonapoptotic form of cell death initiated by actomyosin-dependent homotypic cell-in-cell invasion that can be observed in malignant exudates during tumor progression. We previously demonstrated formin-mediated actin dynamics at the rear of the invading cell as well as nonapoptotic plasma membrane (PM) blebbing in this cellular motile process. Although the contractile actin cortex involved in bleb-driven motility is well characterized, a role for transcriptional regulation in this process has not been studied. Here, we explore the impact of the actin-controlled MRTF-SRF (myocardin-related transcription factor-serum response factor) pathway for sustained PM blebbing and entotic invasion. We find that cortical blebbing is tightly coupled to MRTF nuclear shuttling to promote the SRF transcriptional activity required for entosis. Furthermore, PM blebbing triggered SRF-mediated up-regulation of the metastasis-associated ERM protein Ezrin. Notably, Ezrin is sufficient and important to sustain bleb dynamics for cell-in-cell invasion when SRF is suppressed. Our results highlight the critical role of the actin-regulated MRTF transcriptional pathway for bleb-associated invasive motility, such as during entosis. © 2017 Soto Hinojosa et al.
Cherungottil V Radhadevi
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.
S. Yu. Petrov
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.
Full Text Available Melanocytic nevi in the bone metaplasia is not a common case. The majority of these lesions tend to be located in the upper part of the body, as in our case. There is a higher incidence of females. In the pathogenesis usually is thought to develop seconder damage of the hair follicles. We report a 46-year-old woman who presented a case of osseous metaplasia within a benign intradermal melanocytic nevus was excised from the face.
Full Text Available White Sponge Nevus is a rear hereditary disease in human causes incurable white lesions in oral mucosa. Appropriate history, clinical examination along with biopsy and cytological studies are helpful for diagnosis of this disorder. Identification can also be made in alternative way by applying image processing technique using Watershed segmentation with MATLAB software. The applied techniques are effective and reliable for early accurate detection of the disease as alternative of expertise clinical and time taking laboratory investigations.
Kocak, Aslihan Yonca; Kocak, Oguzhan
We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair. Association of woolly hair nevus with some other ectodermal defects effecting skin and eyes has been reported before. Here, woolly hair nevus associated with demarcation lines and heterochromia iridis, to our knowledge, have not been previously reported.
Goudarzi, Mohammad; Tarbashevich, Katsiaryna; Mildner, Karina; Begemann, Isabell; Garcia, Jamie; Paksa, Azadeh; Reichman-Fried, Michal; Mahabaleshwar, Harsha; Blaser, Heiko; Hartwig, Johannes; Zeuschner, Dagmar; Galic, Milos; Bagnat, Michel; Betz, Timo; Raz, Erez
Cell migration is essential for morphogenesis, organ formation, and homeostasis, with relevance for clinical conditions. The migration of primordial germ cells (PGCs) is a useful model for studying this process in the context of the developing embryo. Zebrafish PGC migration depends on the formation of cellular protrusions in form of blebs, a type of protrusion found in various cell types. Here we report on the mechanisms allowing the inflation of the membrane during bleb formation. We show that the rapid expansion of the protrusion depends on membrane invaginations that are localized preferentially at the cell front. The formation of these invaginations requires the function of Cdc42, and their unfolding allows bleb inflation and dynamic cell-shape changes performed by migrating cells. Inhibiting the formation and release of the invaginations strongly interfered with bleb formation, cell motility, and the ability of the cells to reach their target. Copyright © 2017 Elsevier Inc. All rights reserved.
Masina, M; Costa, A M; Patrizi, A; Ricchi, E; Costigliola, P
The Authors report a 24 year-old female who presented a linear localized epidermal nevus, from birth. Few months after a diagnosis of HIV infection (ARC WR 4) they observed the flaring-up of psoriasis both on the typical cutaneous sites, and on nevus, which looked like linear psoriasis.
Full Text Available We report a novel treatment for giant congenital melanocytic nevi (GCMN that involves the reuse of resected nevus tissue after high hydrostatic pressurization (HHP. However, the remaining melanin pigments in the inactivated nevus tissue pose a problem; therefore, we performed a long-term observation of the color change of inactivated nevus tissue after HHP. Pressurized nevus specimens (200 MPa group, n = 9 and non-pressurized nevus tissues (control group, n = 9 were subcutaneously implanted into nude mice (BALB/c-nu and then harvested 3, 6, and 12 months later. Color changes of the nevus specimens were evaluated. In the 200 MPa group, the specimen color gradually regressed and turned white, and brightness values were significantly higher in the 200 MPa group than in the control group after 6 months. This indicated that melanin pigments in the pressurized nevus tissue had spontaneously degraded and regressed. Therefore, it is not necessary to remove melanin pigments in HHP-treated nevus tissue.
Munro, Monique; McWhae, John; Romanchuk, Kenneth; Crichton, Andrew; Carter, Gordon; Ball, Arlene
To report a case of an idiopathic unilateral filtering bleb in an otherwise well patient and a case of bilateral spontaneous filtering blebs in association with Terrien marginal degeneration. In this retrospective observational study of 2 cases, clinical notes, ultrasound biomicroscopy and gonioscopy images were reviewed. Case 1: A 32-year-old woman presented with a 1-year history of a gradually growing cyst in her right eye. No changes in vision were reported. The patient had no previous ocular or systemic history, trauma, or surgical interventions. Slit-lamp examination revealed a multilobulated cyst at the supranasal limbus OD. Diagnosis was an idiopathic spontaneous limbal filtering bleb of unclear etiology because there was no inciting event or obvious cause. Case 2: A 31-year-old man, with 2 past episodes of spontaneous filtering bleb development, affecting the left, then the right, eye, presented with his third event in May 2012. The visual acuity was decreased to 20/400 OD. The right eye was hypotonous and ultrasound biomicroscopy confirmed a shallow anterior chamber, a superior peripheral corneal defect, and an echolucent space suggestive of subconjunctival fluid. Limbal thinning was noted bilaterally, consistent with Terrien marginal degeneration. This is a rare case of an idiopathic filtering bleb occurring in a healthy patient with no precipitating cause, other ocular abnormalities, or physical malformations, and the only reported case of bilateral sequential filtering blebs associated with an atypical presentation of Terrien marginal degeneration.
Shields, Patrick W; Jakobiec, Frederick A; Stagner, Anna M; Yoon, Michael K
A 16-year-old boy developed over a 2-month interval a lightly pigmented left upper eyelid lesion measuring 1.5 mm in greatest diameter that, when excised, microscopically was hypercellular and composed almost exclusively of nonpigmented epithelioid cells that created florid, large intraepidermal junctional nests and sheets and nests of subepidermal cells. The diagnosis was a Spitz nevus. HMB-45, MART-1, and microphthalmia-associated transcription factor were all positive and established the melanocytic nature of the benign tumor. The Ki-67 proliferation index (5%) and 2 mitoses/mm(2) were both low; p16 protein was immunohistochemically identified in the nevoid cells. We review the clinical, histopathologic, and other immunohistochemical features of this entity and provide a brief differential diagnosis (including separation from a Spitzoid melanoma). This is only the third eyelid Spitz nevus reported in the literature and is the most fully characterized immunohistochemically. At their present stage of development, contemporary immunohistochemical biomarkers, while providing supplemental information, nonetheless remain less than definitive in terms of reliably distinguishing benign from malignant Spitz lesions. Copyright © 2016 Elsevier Inc. All rights reserved.
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.
Yang, Yuqi; Li, Shuli; Zhu, Guannan; Zhang, Qian; Wang, Gang; Gao, Tianwen; Li, Chunying; Wang, Lin; Jian, Zhe
Vitiligo and halo nevus are two common T-cell-mediated skin disorders. Although autoimmunity has been suggested to be involved in both diseases, the relationship between vitiligo and halo nevus is not fully understood. The aim of the current study was to investigate whether vitiligo and halo nevus share the same immunological and oxidative stress response. Infiltrations of T cells, and expressions of chemokine receptors (CXCR3, CCR4, CCR5) and cytotoxic markers (Granzyme B, Perforin) in the lesions of vitiligo and halo nevus were examined by immunohistochemistry. Enzyme-linked immunosorbent assay was performed to analyze the expressions of chemokines in the serum samples and cytotoxic markers secreted by CD8 + T cells which were sorted from the peripheral blood mononuclear cells in healthy donors, vitiligo and halo nevus patients. Tissue levels of chemokine receptors and CXCR3 ligands in healthy controls, vitiligo patients and halo nevus patients were determined by qRT-PCR analysis. The percentages of CXCR3 + CD4 + T and CXCR3 + CD8 + T cells from the peripheral blood samples were examined by flow cytometry. Tissue and serum hydrogen peroxide (H 2 O 2 ) concentrations were measured using H 2 O 2 assay kit. Immunohistochemistry revealed a significant T-cell response, with pronounced dermal infiltrates of CD8 + T cells in vitiligo and halo nevus. The inflammatory cytotoxic markers such as Granzyme B and Perforin were also elevated in vitiligo and halo nevus, suggesting inflammatory responses in situ. By qRT-PCR and ELISA assay, we found significantly increased expressions of the chemokine receptor CXCR3 and its ligands, especially the accumulated CXCL10 in the skin lesions of vitiligo and halo nevus. Moreover, the level of H 2 O 2 , a key player involved in regulation of the immune response was significantly upregulated in the skin lesions of vitiligo and halo nevus. In addition, the increased H 2 O 2 concentration correlated positively with CXCL10 level in skin
Xiao, Bo; Yang, Jin; Chu, Yanhua; Han, Quanhong
To summarize the characters of 6 bleb-associated endophthalmitis (BAE) cases and to report the outcomes of prompt 27-gauge sutureless transconjunctival vitrectomy to treat these cases. Retrospective, non-randomized, consecutive case series of patients diagnosed with bleb-associated endophthalmitis who underwent prompt 27-gauge vitrectomy. The interval to get bleb-associated endophthalmitis from previous surgery was variant from 2 weeks to 36 months. Most of the patients experienced eye pain. The visual acuity was affected quickly. All the patients presented with hypopyon, fibrinous reaction, and vitreous wick. The size of the hypopyon was from 2 to 4 mm. Two patients came with intraocular lenses. Prompt 27-gauge sutureless transconjunctival vitrectomy was performed on all patients with bleb-associated endophthalmitis. None of the patients experienced complications of sutureless vitrectomy such as hypotony or wound leak. The improvement of best corrected visual acuity (BCVA) was significant in four of six patients. The improvement of BCVA was statistically calculated by using logMAR VA (p 21 mmHg) and received pressure-lowering agents. BAE is associated with substantial visual morbidity. Prompt 27-gauge sutureless transconjunctival vitrectomy is an effective and safe way for treating bleb-associated endophthalmitis.
Full Text Available AIM:To investigate the efficacy and safety of needle revision with 5-fluorouracil(5-FUon the dysfunctional filtering blebs after trabeculectomy and to assess the factors that may impact the success. METHODS:Eighty-three eyes in 76 patients underwent the needle revision and 5-FU subconjunctive injection for the dysfunctional blebs after trabeculectomy and were followed up for 12mo. The intraocular pressure(IOP, the number of drugs, corneal endothclium, bleb morphology and complications were observed and recorded. RESULTS:IOP decreased significantly from 35.3±5.8mmHg(1kPa=7.5mmHgof pre-needling to 17.0±4.3mmHg of post-needling(PPCI: 10.3-11.6. Statistically, there were no significant difference on needling effect with reference to the types of glaucoma, the use of mitomycin C(MMCduring the previous filtration surgery, the ages of patients, the intervals of needling operation from previous trabeculectomy, while there were significant difference on needling effect with reference to bleb appearance before needling, and the mean number of needling in patients that had surgery within 3mo were less than those who had surgery for more than 3mo. CONCLUSION: The needle revision combined with 5-FU is a safe, effective and simple method. Dysfunctional blebs should be treated early after trabeculectomy.
Yeong, M L; Wakefield, S J; Ford, H C
Comfrey, a popular herbal remedy, contains hepatotoxic pyrrolizidine alkaloids and has been implicated in recent human toxicity. Although alkaloids from other plant sources have been extensively researched, studies on the hepatotoxic effects of comfrey alkaloids are scant. The effects of high dose comfrey toxicity have been studied and the present investigation was undertaken to identify changes associated with relatively low dose toxicity. Eight young adult rats were dosed weekly for six weeks with 50 mg/kg of comfrey derived alkaloids. The animals were dissected one week after the last dose and the livers examined by light and electron microscopy. Changes at the light microscopic level showed vascular congestion, mild zone 3 necrosis and loss of definition of hepatocyte cellular membranes. Extensive ultrastructural abnormalities were identified in the form of endothelial sloughing and the loss of hepatocyte microvilli. A striking finding was florid bleb formation on the sinusoidal borders of hepatocytes. Many blebs were shed into the space of Disse and extruded to fill, and sometimes occlude, sinusoidal lumina. Platelets were frequently found in areas of bleb formation. There was evidence of late damage in collagenization of Disse's space. Hepatocyte bleb formation is known to occur under a variety of pathological conditions but there is little to no information in the literature on the effects, if any, of bleb formation on fibrogenesis and the microcirculation and its role in the pathogenesis of liver disease. The pyrrolizidine alkaloids of comfrey may serve as an experimental tool to study the process of bleb formation and the intimate relationship between hepatocyte and sinusoidal injury in the liver.
Sekyrova, Petra; Östblom, Joel; Andäng, Michael
Epithelial to mesenchymal transition (EMT) during metastasis is initially a two-step process beginning with delamination of cells from the solid tumor followed by acquisition of a migratory phenotype. Several reports indicate that plasma membrane blebbing, associated with cell division, coincides with cell delamination during developmental EMT. This raises a speculative question if blebbing drives EMT in cancer cells in a similar way. Here, we review available data on factors and processes that may support such a connection. Copyright © 2012 Elsevier Ltd. All rights reserved.
Full Text Available A 26-year-old male presented with superior filtering bleb with scleral thinning, dislocated lens, and hypotony in both the eyes. His cornea was normal without any sign of ectasia, and there was no history of recurrent redness, trauma, or surgery in either eye. Anterior segment optical coherence tomography did not reveal communicating fistula between the anterior chamber and subconjunctival space. Physical examination and blood investigations did not reveal any systemic association. He was diagnosed to have spontaneous filtering bleb, which is a rare condition observed with ocular or systemic abnormalities.
Aalborg, Jenny; Morelli, Joseph G; Byers, Tim E; Mokrohisky, Stefan T; Crane, Lori A
It has been widely reported that individuals with a light phenotype (ie, light hair color, light base skin color, and propensity to burn) have more nevi and are at greater risk for developing skin cancer. No studies have systematically investigated how phenotypic traits may interact in relation to nevus development. We sought to systematically examine whether any combinations of phenotype are associated with a greater or lesser risk for nevus development in white children. In the summer of 2007, 654 children were examined to determine full body nevus counts, skin color by colorimetry, and hair and eye color by comparison with charts. Interviews of parents were conducted to capture sun sensitivity, sun exposure, and sun protection practices. Among 9-year-old children with sun sensitivity rating type II (painful burn/light tan), those with light hair had lower nevus counts than did those with dark hair (P value for interaction = .03). This relationship was independent of eye color, presence of freckling, sex, usual daily sun exposure, sunburn in 2004 to 2007, sun protection index, and waterside vacation sun exposure. The difference in nevus counts was further determined to be specific to small nevi (white children, dark-haired individuals who burn readily and then tan slightly are more prone to nevus development, and may therefore be a previously underrecognized high-risk group for melanoma. Copyright 2009 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.
Yolanda I. Hechavarría Duque
Full Text Available Se reportó el estudio de las historias clínicas de 3 pacientes portadores de nevus de la conjuntiva ocular que evolucionó de manera desfavorable hacia melanoma de la conjuntiva, por lo que se plantea que el mejor tratamiento es el profiláctico en estos casos. Se realizaron conclusiones y recomendaciones.The study of the medical histories of 3 patients carriers of nevus of the ocular conjunctiva that evolved unfavorably towards melanoma of the conjunctiva is dealt with. As a result, it is stated that the prophylactic treatment is the best in these cases. Conclusions are reached and recommendations are made.
Lorentzen, Anna; Bamber, Jeffrey; Sadok, Amine; Elson-Schwab, Ilan; Marshall, Christopher J
Melanoma cells can switch between an elongated mesenchymal-type and a rounded amoeboid-type migration mode. The rounded 'amoeboid' form of cell movement is driven by actomyosin contractility resulting in membrane blebbing. Unlike elongated A375 melanoma cells, rounded A375 cells do not display any obvious morphological front-back polarisation, although polarisation is thought to be a prerequisite for cell movement. We show that blebbing A375 cells are polarised, with ezrin (a linker between the plasma membrane and actin cytoskeleton), F-actin, myosin light chain, plasma membrane, phosphatidylinositol (4,5)-bisphosphate and β1-integrin accumulating at the cell rear in a uropod-like structure. This structure does not have the typical protruding shape of classical leukocyte uropods, but, as for those structures, it is regulated by protein kinase C. We show that the ezrin-rich uropod-like structure (ERULS) is an inherent feature of polarised A375 cells and not a consequence of cell migration, and is necessary for cell invasion. Furthermore, we demonstrate that membrane blebbing is reduced at this site, leading to a model in which the rigid ezrin-containing structure determines the direction of a moving cell through localised inhibition of membrane blebbing.
Møller, Jeannette Dan; Barnes, A.C.; Dalsgaard, Inger
(LPS) or lipooligosaccharides (LOS) were associated with the MVs. Only the MVs of the HA+ strain possessed haemagglutinin activity. These findings suggest that the F. psychrophilum may, through surface blebbing, release antigenic MVs that contain some proteolytic activity and may aid the bacterium...... in releasing nutrients from its surrounding environment as well as playing a role in impeding the immune response of its host...
Somasekharan, S.P.; Koc, Michal; Morizot, A.; Micheau, O.; Sorensen, P.H.B.; Gaide, O.; Anděra, Ladislav; Martinou, J.C.
Roč. 18, č. 3 (2013), s. 324-336 ISSN 1360-8185 Institutional support: RVO:68378050 Keywords : TRAIL * membrane blebbing * ROCK1 * HCT116 Bax−/− * cancer cell migration * drug resistance * bortezomib * proteasome Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.614, year: 2013
Esfandiari, Hamed; Pakravan, Mohammad; Loewen, Nils A; Yaseri, Mehdi
Background : To determine the predictive value of postoperative bleb morphological features and intraocular pressure (IOP) on the success rate of trabeculectomy. Methods : In this prospective interventional case series, we analyzed for one year 80 consecutive primary open angle glaucoma patients who underwent mitomycin-augmented trabeculectomy. Bleb morphology was scored using the Indiana bleb appearance grading scale (IBAGS). Success was defined as IOP ≤15 mmHg at 12 months. We applied a multivariable regression analysis and determined the area under the receiver operating characteristic curve (AUC). Results : The mean age of participants was 62±12.3 years in the success and 63.2±16.3 years in the failure group (P= 0.430) with equal gender distribution (P=0.911). IOPs on day 1, 7 and 30 were similar in both (P= 0.193, 0.639, and 0.238, respectively.) The AUC of IOP at day 1, day 7 and 30 for predicting a successful outcome was 0.355, 0.452, and 0.80, respectively. The AUC for bleb morphology parameters of bleb height, extension, and vascularization, on day 14 were 0.368, 0.408, and 0.549, respectively. Values for day 30 were 0.428, 0.563, and 0.654. IOP change from day 1 to day 30 was a good predictor of failure (AUC=0.838, 95% CI: 0.704 to 0.971) with a change of more than 3 mmHg predicting failure with a sensitivity of 82.5% (95% CI: 68 to 91%) and a specificity of 87.5% (95% CI: 53 to 98%). Conclusions : IOP on day 30 had a fair to good accuracy while bleb features failed to predict success except bleb vascularity that had a poor to fair accuracy. An IOP increase more than 3 mmHg during the first 30 days was a good predictor of failure.
Richards, Mark J; Hsia, Chih-Yun; Singh, Rohit R; Haider, Huma; Kumpf, Julia; Kawate, Toshimitsu; Daniel, Susan
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
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.
Hsu, S Tammy; Gabr, Hesham; Viehland, Christian; Sleiman, Karim; Ngo, Hoan T; Carrasco-Zevallos, Oscar M; Vajzovic, Lejla; McNabb, Ryan P; Stinnett, Sandra S; Izatt, Joseph A; Kuo, Anthony N; Toth, Cynthia A
We advance studies of subretinal treatments by developing a microscope-integrated optical coherence tomography (MIOCT) image-based method for measuring the volume of therapeutics delivered into the subretinal space. A MIOCT image-based volume measurement method was developed and assessed for accuracy and reproducibility by imaging an object of known size in model eyes. This method then was applied to subretinal blebs created by injection of diluted triamcinolone. Bleb volumes obtained from MIOCT were compared to the intended injection volume and the surgeon's estimation of leakage. Validation of the image-based volume measurement method showed accuracy to ±1.0 μL (6.0% of measured volume) with no statistically significant variation under different imaging settings. When this method was applied to subretinal blebs, four of 11 blebs without surgeon-observed leakage yielded a mean volume of 32 ± 12.5 μL, in contrast to the intended 50 μL volume injected from the delivery device. This constituted a mean difference of -18 μL (mean percent error, 36 ± 25%). For all 11 blebs, the surgeon's estimations of leakage were significantly different from and showed no correlation with the volume loss based on image-based volume measurements ( P < 0.001, paired t -test; intraclass correlation = 0). We validated an accurate and reproducible method for measuring subretinal volumes using MIOCT. Use of this method revealed that the intended volume might not be delivered into the subretinal space. MIOCT can allow for accurate assessment of subretinal dose delivered, which may have therapeutic implications in evaluating the efficacy and toxicity of subretinal therapies. Use of MIOCT can provide feedback on the accuracy of subretinal injection volumes delivered.
Valverde-Megías, Alicia; Say, Emil A T; Ferenczy, Sandor R; Shields, Carol L
To evaluate optical coherence tomography angiography (OCTA) characteristics of macular vascular details in eyes with choroidal nevus and melanoma, compared with unaffected contralateral eye. Retrospective comparative analysis comprising 70 patients with choroidal nevus and 36 patients with choroidal melanoma examined with optical coherence tomography angiography. Measurements included central macular thickness (CMT), superficial (sFAZ) and deep (dFAZ) foveal avascular zone (FAZ) area, and superficial (sCVD) and deep (dCVD) capillary vascular density (CVD). In patients with nevus, CMT (affected vs. unaffected eye) was similar (267 vs. 265 μm, P = 0.67), whereas in patients with melanoma, CMT demonstrated greater thickness in affected eye (322 vs. 259 μm, P eyes with nevus, the FAZ (affected vs. unaffected eye) showed similar values in sFAZ (0.238 vs. 0.232 mm, P = 0.72) and dFAZ (0.284 vs. 0.271 mm, P = 0.48). In eyes with melanoma, similar values for sFAZ (0.249 vs. 0.260 mm, P = 0.73) were noted, whereas dFAZ was larger in the affected eye with macular melanoma (0.530 vs. 0.252 mm, P = 0.012) and similar in eyes with extramacular melanoma (0.300 vs. 0.285, P = 0.75). Regarding CVD (affected vs. unaffected eye), eyes with nevus showed similar sCVD (54 vs. 53.9%, P = 0.81) and dCVD (60 vs. 59.4%, P = 0.19). Reduced dCVD was found in four eyes with nevus, all with three or more risk factors for growth (P eyes with melanoma, significant reduction was found in both sCVD (50.5 vs. 53.1%, P = 0.006) and dCVD (56.6% vs. 59.8%, P = 0.0003). Reduction in sCVD was related to presence of subretinal fluid (P = 0.03). Reduction in dCVD was found with subretinal fluid presence (P = 0.003) or absence (P = 0.03), with both macular (P melanoma, and with increasing tumor thickness (P = 0.005). Reduced dCVD was found in 11% of eyes with nevus versus 58% of eyes with melanoma (Chi-square test: 26.31; P eye, eyes with choroidal nevus demonstrate similar CMT, FAZ, and CVD. In contrast
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
Truong, Amanda; Strazzulla, Lauren; March, Jordon; Boucher, Kenneth M; Nelson, Kelly C; Kim, Caroline C; Grossman, Douglas
Total body photography (TBP) can facilitate identification of new and changing lesions. By confirming that particular nevi are stable, TBP may reduce nevus biopsies. We sought to determine the number and rate of nevus biopsies before and after TBP, and the factors associated with increased biopsy rate during monitoring by TBP. We reviewed records of all patients in 2 pigmented lesion clinics (PLCs) who received TBP and had 2 or more follow-up visits over a period of 2 years or longer. Before PLCs and TBP, the mean number of nevus biopsies per patient was 5.92 (589 patients) at a mean rate of 1.62 per year (160 patients). After TBP in PLCs, the same patients averaged 1.56 biopsies at a mean rate of 0.34 per year (P family history of melanoma, but not nevus number. Some information was not available for some patients. Patients at risk for melanoma experienced a 3.8-fold reduction in nevus biopsies after TBP. Younger male patients with family history of melanoma had higher biopsy rates after TBP. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
Taylor, Nicholas J; Mitra, Nandita; Goldstein, Alisa M
Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been es...
Hastrup, N; Osterlind, A; Drzewiecki, K T; Hou-Jensen, K
We examined 512 malignant melanomas, representing all newly diagnosed cutaneous malignant melanomas, excluding lentigo maligna melanomas, from the period October 1, 1982 to March 31, 1985 occurring in the region of eastern Denmark in patients aged 20-79 years for the presence of dysplastic nevus remnants. Criteria for the diagnosis of a dysplastic nevus remnant include all the following changes (a) lentiginous or epithelioid melanocyte hyperplasia, (b) cytologic melanocyte atypia, (c) eosinophilic fibroplasia, (d) lamellar fibroplasia, and (e) lymphocytic infiltration in the dermis. Dysplastic nevus remnants were found in association with 34 (7%) of the evaluable 512 malignant melanomas. Fourteen (41%) of the remnants were of compound nevus type. In nine (27%) of the remnants, atypia was pronounced. Most (62%) dysplastic nevus remnants were contiguous to thin superficial spreading melanomas. We conclude from this population-based study that about 7% of malignant melanomas arise in prior dysplastic nevi.
He, Tiangeng; Mao, Chunjie; Xu, Dongbo; Yan, Hua
Cellular blue nevus is an uncommon neoplasm in the conjunctiva. Here we present an unusual case of a cellular blue nevus that clinically resembled conjunctival melanoma. A 29-year-old Chinese male was found to have a giant pigmented lesion of the conjunctiva around the limbal area of right eye from birth. Excisional biopsy with no-touch technique, lamellar corneal transplantation, amniotic membrane transplantation and adjuvant cryotherapy were performed. Histopathology revealed a nodular, well-defined tumor, which was composed of heavily pigmented dendritic cells and less pigmented spindle cells. There was no recurrence during eight years follow-up. Cellular blue nevus of conjunctiva can be wrongly diagnosed as conjunctival melanoma due to atypia criteria. Therefore, it is important to understand its clinical and pathological characteristics to avoid an overtreatment. © 2017 by the Association of Clinical Scientists, Inc.
Fabian, Ido D; Arora, Amit K; Cohen, Victoria M L
To report a case of a choroidal melanoma and a discrete choroidal nevus that has transformed into a malignant melanoma 5 years after initial diagnosis. Retrospective case report. A diffuse macular choroidal melanoma and a discrete choroidal nevus located superonasal to the optic disk were diagnosed in the right eye of a 63-year-old woman in 2009. The patient was treated by ruthenium plaque radiotherapy for the choroidal melanoma, which consequently flattened and scarred. On a routine eye check in 2014, the nevus was found to have been transformed into a choroidal melanoma. It was treated with ruthenium plaque radiotherapy. Although extremely rare, patients with a uveal melanoma can develop an additional discrete uveal melanoma. This case highlights the importance of monitoring benign choroidal nevi in patients with a history of choroidal melanoma.
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.
Gantner, Susanne; Rütten, Arno; Requena, Luis; Gassenmaier, Gerhard; Landthaler, Michael; Hafner, Christian
CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area, left hand and left foot since childhood. The histopathologic findings were consistent with verruciform xanthoma. In correlation with the clinical picture of a linear lesion, the diagnosis of CHILD nevus was made. Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome. This syndrome can be associated with only minimal clinical symptoms. The anatomical distribution of the lesions, a static clinical course and the typical histopathologic features of a CHILD nevus can serve as the clue to a diagnosis of CHILD syndrome in such cases. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Full Text Available Purpose : To evaluate the microbial etiology and associated risk factors among patients with blebitis following trabeculectomy. Materials and Methods : A retrospective analysis of all culture-proven blebitis was performed in patients who underwent trabeculectomy between January 2004 and December 2008. A standardized form was filled out for each patient, documenting sociodemographic features and information pertaining to risk factors. Swabbing of the infected bleb surface was performed for all suspected cases and further subjected to microbiological analysis. Results : A total of 23 patients with culture-proven blebitis were treated during the study period, with a mean age of 59.2 years (59.2 ± SD: 12.8; range, 30-81 years. Duration of onset was early (≤36 months in six (26% cases and late (> 36 months in 17 (74% cases with a range between 15 and 144 months (mean, 82.91 months; SD: 41.89. All 23 blebs were located superiorly and of which, 21 (91% were microcystic avascular, 1 (4% diffuse avascular, and 1 (4% vascular flattened. The predominant risk factor identified was bleb leak (35%; 8 of 23 followed by thin bleb (22%; 5 of 23 and blepharitis (17%; 4 of 23. Bleb leaks (100% were recorded only in patients with late onset (≥ 9 years of infection (P< 0.001, while the incidence of ocular surface disease (100% occurred early (≤3 years (P< 0.001. Use of topical steroids was associated frequently with cases of thin blebs (80%; 4 of 5 (P< 0.001, while topical antibiotics showed bleb leaks (88%; 7 of 8 (P< 0.001. Coagulase-positive staphylococci were frequently recovered from blebitis with thin blebs (71%; 5 of 7 (P = 0.001, Coagulase-negative staphylococci (CoNS with bleb leak (100%; 8 of 8 (P< 0.001, Corynebacterium with blepharitis (100%; 3 of 3 (P = 0.001, and Streptococci with releasable sutures (75%; 3 of 4 (P = 0.001. Conclusion : Bleb leak is the principal risk factor responsible for late-onset blebitis, while early-onset blebitis could
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.
Meesters, Arne A.; Wind, Bas S.; Kroon, Marije W.; Wolkerstorfer, Albert; van der Veen, J. P. Wietze; Nieuweboer-Krobotová, Ludmila; van der Wal, Allard C.; Bos, Jan D.; Beek, Johan F.
Becker nevus (BN) is an uncommon pigment disorder characterized by hyperpigmentation and sometimes hypertrichosis. To date, no effective treatment has been available. We sought to assess efficacy and safety of ablative 10,600-nm fractional laser therapy (FLT) in the treatment of BN. Eleven patients
Vissers, W.H.P.M.; Muys, L.; Erp, P.E.J. van; Jong, E.M.G.J. de; Kerkhof, P.C.M. van de
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
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
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.
Sroka, Jolanta; Krecioch, Izabela; Zimolag, Eliza; Lasota, Slawomir; Rak, Monika; Kedracka-Krok, Sylwia; Borowicz, Pawel; Gajek, Marta; Madeja, Zbigniew
The endogenous electric field (EF) may provide an important signal for directional cell migration during wound healing, embryonic development and cancer metastasis but the mechanism of cell electrotaxis is poorly understood. Additionally, there is no research addressing the question on the difference in electrotactic motility of cells representing various strategies of cell movement-specifically blebbing vs. lamellipodial migration. In the current study we constructed a unique experimental model which allowed for the investigation of electrotactic movement of cells of the same origin but representing different modes of cell migration: weakly adherent, spontaneously blebbing (BC) and lamellipodia forming (LC) WC256 cells. We report that both BC and LC sublines show robust cathodal migration in a physiological EF (1-3 V/cm). The directionality of cell movement was completely reversible upon reversing the field polarity. However, the full reversal of cell direction after the change of EF polarity was much faster in the case of BC (10 minutes) than LC cells (30 minutes). We also investigated the distinct requirements for Rac, Cdc42 and Rho pathways and intracellular Ca2+ in electrotaxis of WC256 sublines forming different types of cell protrusions. It was found that Rac1 is required for directional movement of LC to a much greater extent than for BC, but Cdc42 and RhoA are more crucial for BC than for LC cells. The inhibition of ROCK did not affect electrotaxis of LC in contrast to BC cells. The results also showed that intracellular Ca2+ is essential only for the electrotactic reaction of BC cells. Moreover, inhibition of MLCK and myosin II did not affect the electrotaxis of LC in contrast to BC cells. In conclusion, our results revealed that both lamellipodia and membrane blebs can efficiently drive electrotactic migration of WC 256 carcinosarcoma cells, however directional migration is mediated by different signalling pathways.
Full Text Available The endogenous electric field (EF may provide an important signal for directional cell migration during wound healing, embryonic development and cancer metastasis but the mechanism of cell electrotaxis is poorly understood. Additionally, there is no research addressing the question on the difference in electrotactic motility of cells representing various strategies of cell movement-specifically blebbing vs. lamellipodial migration. In the current study we constructed a unique experimental model which allowed for the investigation of electrotactic movement of cells of the same origin but representing different modes of cell migration: weakly adherent, spontaneously blebbing (BC and lamellipodia forming (LC WC256 cells. We report that both BC and LC sublines show robust cathodal migration in a physiological EF (1-3 V/cm. The directionality of cell movement was completely reversible upon reversing the field polarity. However, the full reversal of cell direction after the change of EF polarity was much faster in the case of BC (10 minutes than LC cells (30 minutes. We also investigated the distinct requirements for Rac, Cdc42 and Rho pathways and intracellular Ca2+ in electrotaxis of WC256 sublines forming different types of cell protrusions. It was found that Rac1 is required for directional movement of LC to a much greater extent than for BC, but Cdc42 and RhoA are more crucial for BC than for LC cells. The inhibition of ROCK did not affect electrotaxis of LC in contrast to BC cells. The results also showed that intracellular Ca2+ is essential only for the electrotactic reaction of BC cells. Moreover, inhibition of MLCK and myosin II did not affect the electrotaxis of LC in contrast to BC cells. In conclusion, our results revealed that both lamellipodia and membrane blebs can efficiently drive electrotactic migration of WC 256 carcinosarcoma cells, however directional migration is mediated by different signalling pathways.
Elizabeth E Gray
Full Text Available Subcapsular sinus macrophages (SSMs in lymph nodes are rapidly exposed to antigens arriving in afferent lymph and have a role in their capture and display to B cells. In tissue sections SSMs exhibit long cellular processes and express high amounts of CD169. Here, we show that many of the cells present in lymph node cell suspensions that stain for CD169 are not macrophages but lymphocytes that have acquired SSM-derived membrane blebs. The CD169 bleb(+ lymphocytes are enriched for IL-17 committed IL-7Rα(hiCCR6(+ T cells and NK cells. In addition, the CD169 staining detected on small numbers of CD11c(hi dendritic cells is frequently associated with membrane blebs. Counter intuitively the CD169 bleb(+ lymphocytes are mostly CD4 and CD8 negative whereas many SSMs express CD4. In situ, many IL-7Rα(hi cells are present at the subcapsular sinus and interfollicular regions and migrate in close association with CD169(+ macrophages. These findings suggest SSMs undergo fragmentation during tissue preparation and release blebs that are acquired by closely associated cells. They also suggest an intimate crosstalk between SSMs and IL-17 committed innate-like lymphocytes that may help provide early protection of the lymph node against lymph-borne invaders.
Full Text Available Purpose: To compare the efficacy and safety of topical mitomycin‑C (MMC drops with that of subconjunctival 5‑fluorouracil (5‑FU injections for management of early bleb failure after trabeculectomy or combined phacoemulsification and trabeculectomy with posterior chamber intraocular lens implantation (PT+PCIOL. Methods: In a randomized comparative study, 37 eyes of 37 patients with impending early bleb failure received MMC 0.02% eye drops for 2 or 4 weeks (19 eyes or subconjunctival 5‑FU injections, 5 mg per dose (18 eyes. Complete success was defined as 5 < IOP ≤ 18 mmHg without medications. Results: Baseline characteristics were comparable between the study groups. However, there were more cases of combined PT+PCIOL in the MMC group [11 (57.9% eyes versus 3 (16.7% eyes, P = 0.017]. Mean preoperative IOP was 20.58.85 mmHg in the MMC group and 25.8211.35 mmHg in the 5‑FU group (P = 0.129, which was decreased to 13.26.1 and 10.64.8 mmHg respectively after 12 months (P = 0.159. There was no significant difference between the study groups in terms of bleb extent (P = 0.170, height (P = 0.178 or vascularity (P = 0.366. At the end of the study, complete success was achieved in 13 eyes (68.4% in the MMC group and 14 eyes (77.8% in the 5‑FU group (P = 0.714. The survival of success at 8 months (median follow-up was 89.5% and 86.5% in the MMC and 5‑FU groups respectively; the number of glaucoma medications (P = 0.707 and best-corrected visual acuity (P = 0.550 were also comparable. Complication rates were similar in the study groups (P = 0.140. Conclusion: Topical MMC 0.02% has comparable safety and efficacy to subconjunctival 5‑FU injections for management of early bleb failure. Topical MMC 0.02% drops are more convenient and can be initiated first, while 5‑FU injections may be reserved for eyes with an insufficient response to topical MMC.
Full Text Available AIM: To evaluate the effectiveness of autologous conjunctival flap surgery for repairing the late-onset filtering bleb leakage after trabeculectomy. METHODS: This study retrospectively reviewed 106 eyes from 106 patients with late-onset filtering bleb leakage after trabeculectomy who received autologous conjunctival flap surgery at the Zhongshan Ophthalmic Centre from 2005 to 2015. The basic information was recorded, and the interval time between trabeculectomy and autologous conjunctival flap surgery as well as related risk factors, intraocular pressure (IOP, anterior chamber depth (ACD and best corrected visual acuity (BCVA were analysed. Moreover, 41 patients who completed the 1-year follow up were analysed to determine the IOP and BCVA changes and long-term success rates. RESULTS: The 50 male and 56 female subjects (average age 39.13±17.96y included 47 (44.34% and 33 (31.13% cases of primary open angle and primary angle-closure glaucoma. The mean interval between trabeculectomy and repair surgery was 60.60±56.92 (3-264mo. The mean mitomycin (MMC concentration during trabeculectomy was 0.27±0.04 (0.12-0.4 mg/mL in the fornix-based conjunctival flap group (68 patients and 0.28±0.04 (0.20-0.33 mg/mL in the limbal-based conjunctival flap group (11 patients. After bleb leakage, the patients' vision remained stable while the IOP decreased from 10.25±4.76 (3-20.86 to 9.44±4.33 (2-21 mm Hg (P<0.01. In the 41 analysed patients, the IOP was controlled at 15.68±5.11 (7-40 mm Hg in the 1st year after autologous conjunctival flap surgery and recurrence was not observed, for a long-term success rate of 100%. CONCLUSION: Autologous conjunctival flap repairing surgery is an effective technique for sealing filtering bleb leakages and controlling IOP postoperatively.
Rangel, Carlos M; Villota, Eva; Fernández-Vega González, Álvaro; Sanchez-Avila, Ronald M
Report the clinical findings and management of a case of polypoidal choroidal vasculopathy associated with choroidal nevus which received combination therapy. Decreased visual acuity in a woman with polypoidal choroidal vasculopathy and choroidal nevus. Polypoidal choroidal vasculopathy and choroidal nevus. The initial visual acuity was 0.5. After the first treatment with photodynamic therapy, exudation and bleeding appeared around the lesion. After this, the patient received 3 doses of intravitreal bevacizumab. After treatment with combination therapy, visual acuity, clinical and imaging findings improved, with no recurrence of exudation and bleeding. Intravitreal bevacizumab as an adjunctive treatment after photodynamic therapy is a good option for patients with polypoidal choroidal vasculopathy associated with choroidal nevus. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.
Full Text Available Sturge–Weber syndrome (SWS is a rare congenital disorder belongs to a group of disorders collectively known as the phakomatoses (“mother-spot” diseases. It consists of congenital hamartomatous malformations that may affect the eye, skin, and central nervous system (CNS at different times, characterized by the combination of venous angiomas of leptomeninges, face, jaws and oral soft tissues. We hereby report a 14 year old female presented with port wine stain and seizures and was diagnosed as Sturge-Weber syndrome after investigation (MRI. The co-occurrence of Sturge-Weber with facial nevus is 8% only.
Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R
Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.
Valiya Veettil, Mohanan; Sadagopan, Sathish; Kerur, Nagaraj; Chakraborty, Sayan; Chandran, Bala
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 containing c
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
V. D. El'kin
Full Text Available We present a clinical case of ichthyosis hystrix, a rare genetic ichthyosiform dermatosis. Specifics of the disease are related to the complexity of differential diagnosis and verification of the diagnosis, because clinical manifestation of ichthyosis hystrix is similar with that of verrucous epidermal nevus. Clinical particulars of both nosologies are characterized by bizarre and widespread skin lesions of spicular hyperkeratotic growth, located along Blaschko lines. The exclusive feature of the clinical case described is a long-term (20 years clinical and laboratory monitoring of the patient. The literature review provides brief information on etiology, pathogenesis, clinical features, differential diagnosis, and pathomorphology of ichthyosis hystrix and verrucous epidermal nevus.
Wang, Kai; Wang, Zhi; Huang, Weiqing
Halo congenital melanocytic nevus (CMN) associated with vitiligo is rare, especially with regard to CMN excision. Only two reports of excision of halo CMN following repigmentation of vitiligo are found in the literature. We present a case of a girl with halo CMN and periorbital vitiligo. The halo CMN was excised and followed by spontaneous improvement of vitiligo. The result suggests excision of the inciting lesion may be a promising way to control vitiligo. © 2015 Wiley Periodicals, Inc.
Full Text Available Central nervous system involvement in segmental nevus depigmentosus (SND is rare. A 7-month-old boy having convulsion and segmental hypopigmented patch in the right inguinal region. Magnetic resonance imaging of brain showed bilateral periventricular white matter hypoplasia with prominent subarachnoid spaces and mild dilation of ventricles with mild left cerebral hemispheric atrophy. Association of SND with seizure and white matter lesion has been rarely reported.
Tsubota, Akiko; Akiyama, Masashi; Sakai, Kaori; Goto, Maki; Nomura, Yukiko; Ando, Satomi; Abe, Masataka; Sawamura, Daisuke; Shimizu, Hiroshi
Since 1994, four cases of epidermal nevus with epidermolytic hyperkeratosis (EH) caused by keratin 10 gene mutations have been reported, although no keratin 1 (K1) gene mutation has yet been reported. We detected a K1 gene (KRT1) mutation in epidermal nevus with EH in a 10-year-old Japanese male. The patient showed well-demarcated verrucous, hyperkeratotic plaques mainly on the trunk, covering 15% of the entire body surface. No hyperkeratosis was seen on the palms or soles. He had no family history of skin disorders. His lesional skin showed typical granular degeneration and, ultrastructurally, clumped keratin filaments were observed in the upper epidermis. Direct sequence analysis of genomic DNA extracted from lesional skin revealed a heterozygous 5' donor splice site mutation c.591+2T>A in KRT1. This mutation was not detected in genomic DNA samples from the patient's peripheral blood leukocytes or those of other family members. The identical splice mutation was previously reported in a family with palmoplantar keratoderma and mild ichthyosis, and was demonstrated to result in a 22 amino-acid deletion p.Val175_Lys196del in the H1 and 1A domains of K1. To our knowledge, the present patient is the first reported case of epidermal nevus associated with EH caused by a K1 gene mutation in a mosaic pattern.
Full Text Available A case of a 41-year-old woman with a history of nodular melanoma (NM, associated with an indurated dome-shaped blue-black nodule with a diameter of 1.2 cm in the gluteal region, is presented. Clinical diagnosis of the lesion, present from birth, was blue nevus. Recently, the nodule has been showing a mild enlargement and thus complete resection was performed. Histological analysis revealed a pigmented lesion with an expansive pattern of extension into the dermis and the subcutaneous adipose tissue. The lesion displayed an alveolar pattern as well as a pigmented dendritic cell pattern. The histology was consistent with cellular blue nevus (CBN; however, the history of NM which was excised one year earlier, as well as the clinical information about the slow growing lesion, included a differential diagnosis of CBN, borderline melanocytic tumor, and malignant blue nevus. Additional immunohistochemical (HMB-45, p16, and Ki-67 and molecular (BRAF V600E mutation analyses were performed on both lesions: the CBN-like and the previously excised NM. Along with lesion history and histological analyses, p16 staining and BRAF were useful diagnostic tools for confirming the benign nature of CBN in this case.
Sagara, Hideto; Yamamoto, Tetsuya; Sekiryu, Tetsuju; Ogasawara, Masashi; Tango, Toshiro
To investigate seasonal variations in the incidence of late-onset bleb-related infection after filtering surgery in Japan and the relationship between season and other factors. This multicenter, prospective study is part of a 5-year-long Japan Glaucoma Society survey of bleb-related infection. We analyzed 156 cases of first-time infections (106 men, 50 women) encountered over 5 years to determine the seasonal variation using the Roger test and the relationships between season, sex, and age by logistic regression analysis. We noted significant monthly seasonal variation in the incidence of infection, which was the highest in January and February (23 and 18 infections, respectively; P=0.018) and lowest from August to November (9, 9, 11, and 8 infections, in that order). Multiple logistic regression analysis revealed that infections were most frequent among women in spring (odds ratio, 8.43; P=0.005). Staphylococcus aureus and Streptococcus spp. infections were more frequent in warmer seasons than in winter. Less virulent species, namely, coagulase-negative Staphylococcus spp., Corynebacterium spp., and Enterococcus spp., were frequently detected in winter. Coagulase-negative Staphylococcus spp. and Haemophilus influenzae were more frequent in women and men, respectively. The incidence of late-onset bleb-related infection showed significant seasonal variation and sex differences. The climate in Japan may influence the incidence of bleb-related infection. Moreover, besides climate, physical activity level and lifestyle may contribute to the seasonal variation in the incidence and sex differences in the involved bacterial agents of bleb-related infections in Japan.
Rothschild, Pierre-Raphaël; Salah, Sawsen; Berdugo, Marianne; Gélizé, Emmanuelle; Delaunay, Kimberley; Naud, Marie-Christine; Klein, Christophe; Moulin, Alexandre; Savoldelli, Michèle; Bergin, Ciara; Jeanny, Jean-Claude; Jonet, Laurent; Arsenijevic, Yvan; Behar-Cohen, Francine; Crisanti, Patricia
In diabetic retinopathy, the exact mechanisms leading to retinal capillary closure and to retinal barriers breakdown remain imperfectly understood. Rho-associated kinase (ROCK), an effector of the small GTPase Rho, involved in cytoskeleton dynamic regulation and cell polarity is activated by hyperglycemia. In one year-old Goto Kakizaki (GK) type 2 diabetic rats retina, ROCK-1 activation was assessed by its cellular distribution and by phosphorylation of its substrates, MYPT1 and MLC. In both GK rat and in human type 2 diabetic retinas, ROCK-1 is activated and associated with non-apoptotic membrane blebbing in retinal vessels and in retinal pigment epithelium (RPE) that respectively form the inner and the outer barriers. Activation of ROCK-1 induces focal vascular constrictions, endoluminal blebbing and subsequent retinal hypoxia. In RPE cells, actin cytoskeleton remodeling and membrane blebs in RPE cells contributes to outer barrier breakdown. Intraocular injection of fasudil, significantly reduces both retinal hypoxia and RPE barrier breakdown. Diabetes-induced cell blebbing may contribute to ischemic maculopathy and represent an intervention target.
Full Text Available Background: To determine the predictive value of postoperative bleb morphological features and intraocular pressure (IOP on the success rate of trabeculectomy. Methods: In this prospective interventional case series, we analyzed for one year 80 consecutive primary open angle glaucoma patients who underwent mitomycin-augmented trabeculectomy. Bleb morphology was scored using the Indiana bleb appearance grading scale (IBAGS. Success was defined as IOP ≤15 mmHg at 12 months. We applied a multivariable regression analysis and determined the area under the receiver operating characteristic curve (AUC. Results: The mean age of participants was 62±12.3 years in the success and 63.2±16.3 years in the failure group (P= 0.430 with equal gender distribution (P=0.911. IOPs on day 1, 7 and 30 were similar in both (P= 0.193, 0.639, and 0.238, respectively. The AUC of IOP at day 1, day 7 and 30 for predicting a successful outcome was 0.355, 0.452, and 0.80, respectively. The AUC for bleb morphology parameters of bleb height, extension, and vascularization, on day 14 were 0.368, 0.408, and 0.549, respectively. Values for day 30 were 0.428, 0.563, and 0.654. IOP change from day 1 to day 30 was a good predictor of failure (AUC=0.838, 95% CI: 0.704 to 0.971 with a change of more than 3 mmHg predicting failure with a sensitivity of 82.5% (95% CI: 68 to 91% and a specificity of 87.5% (95% CI: 53 to 98%. Conclusions: IOP on day 30 had a fair to good accuracy while bleb features failed to predict success except bleb vascularity that had a poor to fair accuracy. An IOP increase more than 3 mmHg during the first 30 days was a good predictor of failure.
Song, Ji Hun; Jang, Seran; Cho, Eun Hyung; Ahn, Jaehong
When vitrectomy is performed in eyes that have undergone glaucoma surgery, the site of sclerotomy often overlaps with the previous glaucoma operation site. It can lead to serious complications such as postoperative hypotony, leakage, and/or infection. Our technique involves modification of surgeon's position and two sclerotomy sites 45° away from the original position, with an infusion cannula inserted infranasally to avoid damage to the glaucoma drainage implant or filtering bleb. The modified approach was applied to seven eyes with various indications. Vitrectomy was successfully completed, and there were no sclerotomy site complications, leakage, or hypotony in any case. Good intraocular pressure control was maintained throughout the postoperative course in all cases. © Copyright: Yonsei University College of Medicine 2017.
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.
Yan, Liu; Di, Li; Weihua, Wang; Feng, Liu; Ruilian, Li; Jun, Zhou; Hui, Su; Zhaoxia, Ying; Weihui, Zeng
The purpose of this study was to retrospectively analyze the clinical characteristics of treating nevus of Ota by Q-switched Nd:YAG laser in Laser Cosmetology Center of Department of Dermatology, the Second Hospital, Xi'an Jiaotong University. The data of 1168 patients of nevus of Ota were analyzed retrospectively, which included the correlation among lesion color, treatment sessions, sex, age, lesion types, and effect. The Q-switched (QS) Nd:YAG laser system had a higher number of treatment sessions which were positively associated with a better response to treatment. Other variables, including gender, age, the categorization of the lesion according to Tanino's classification, and the color of the lesion, were not associated with the response to treatment. The treatment of nevus of Ota with QS Nd:YAG laser is safe and effective, with rare complications.
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.
Sen, Sumit; Bala, Sanchaita; Halder, Chinmay; Ahar, Rahul; Gangopadhyay, Anusree
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
Nino, Massimiliano; Brunetti, Bruno; Delfino, Sergio; Brunetti, Beniamino; Panariello, Luigia; Russo, Daniela
Spitz nevus is an uncommon, benign melanocytic neoplasm that shares many clinical and histological features with melanoma. It presents clinical ambiguity that makes the diagnosis and management of the patient difficult. We present our experience in the management of Spitz nevus by rigorous dermoscopic long-term follow-up of 8 Spitz nevi in patients younger than 12 years. Dermoscopic images, acquired every 6 months, show evolution and modifications of these lesions. The aim of this paper is to better understand the long-term modifications of nevi with starburst pattern to avoid surgical excision of these lesions in the pediatric age group. Copyright 2008 S. Karger AG, Basel.
Aalborg, Jenny; Morelli, Joseph G; Mokrohisky, Stefan T; Asdigian, Nancy L; Byers, Tim E; Dellavalle, Robert P; Box, Neil F; Crane, Lori A
To examine the relationship between tanning and nevus development in very-light-skinned children. Prospective cohort nested within a randomized controlled trial. Skin examinations in 3 consecutive years (2004, 2005, and 2006) included full-body counts of nevi, skin color and tanning measurement using colorimetry, and hair and eye color evaluation by comparison with charts. Telephone interviews of parents provided sun exposure, sun protection, and sunburn history. Large managed-care organization and private pediatric offices in the Denver, Colorado, metropolitan area. A total of 131 very-light-skinned white children without red hair and 444 darker-skinned white children without red hair born in Colorado in 1998. Full-body nevus counts at ages 6 to 8 years. Among very-light-skinned white children, geometric mean numbers of nevi for minimally tanned children were 14.8 at age 6 years; 18.8 at age 7 years; and 22.3 at age 8 years. Mean numbers of nevi for tanned children were 21.2 at age 6 years; 27.9 at age 7 years; and 31.9 at age 8 years. Differences in nevus counts between untanned and tanned children were statistically significant at all ages (P hair and eye color, parent-reported sun exposure, and skin phototype. Among darker-skinned white children, there was no relationship between tanning and nevi. Very-light-skinned children who tan (based on objective measurement) develop more nevi than children who do not tan. These results suggest that light-skinned children who develop tans may be increasing their risk for developing melanoma later in life.
Amitandra K Tripathi
Full Text Available Sturge-Weber syndrome (SWS is a rare congenital developmental disorder characterized by unilateral cutaneous vascular malformation (nevus flammeus or port-wine stains in association with ipsilateral leptomeningeal angiomatosis and glaucoma. This article presents a case of SWS associated with gingival hyperplasia and pyogenic granuloma.
Amitandra K Tripathi; Mohammad Arif Khan; Krishna Deo; Ranjan Mani Tripathi
Sturge-Weber syndrome (SWS) is a rare congenital developmental disorder characterized by unilateral cutaneous vascular malformation (nevus flammeus or port-wine stains) in association with ipsilateral leptomeningeal angiomatosis and glaucoma. This article presents a case of SWS associated with gingival hyperplasia and pyogenic granuloma.
Wecker, Thomas; Neuburger, Matthias; Bryniok, Laura; Bruder, Kathrin; Luebke, Jan; Anton, Alexandra; Jordan, Jens F
Uncontrolled intraocular pressure (IOP) after glaucoma filtration surgery is a challenging problem in the management of glaucoma patients. The Trabectome is a device for selective electroablation of the trabecular meshwork through a clear cornea incision without affecting the conjunctiva. Minimally invasive glaucoma surgery using the Trabectome is safe and effective as primary glaucoma surgery. Here we investigate the results of ab interno trabeculectomy with the Trabectome for IOP control in patients with a failed filtering bleb. A total of 60 eyes of 60 consecutive patients with primary open-angle glaucoma (POAG) or pseudoexfoliative glaucoma (PXG) were enrolled in this single center observational study. Trabectome surgery was performed alone or in combination with phacoemulsification by 2 experienced surgeons. IOP readings and number of IOP lowering medication as primary outcome parameters were taken by an independent examiner. Intraoperative and postoperative medication were recorded systematically. Mean IOP before surgery was 24.5±3.5 mm Hg and decreased to 15.7±3.4 (-36%) after mean follow-up of 415 days. The number of necessary IOP lowering medication dropped from 2.1±1.3 to 1.8±1.2 (14% reduction from baseline). A total of 25% (n=15) of cases reported here needed additional surgery after 517 days (range: 6 to 1563 d). No major complications were observed. After mean follow-up, we found a qualified success rate for PXG of 87% and 50% for POAG as revealed by the Kaplan-Meier analysis according to the definitions for success in advanced glaucoma cases according to the World Glaucoma Association (40% reduction from baseline IOP and maximum IOP of 15 mm Hg). Trabectome surgery for uncontrolled IOP after trabeculectomy is safe and effective especially in PXG patients. Given the demanding subgroup of patients studied here, it is not surprising that success rates are lower compared with previous studies investigating the Trabectome for primary glaucoma surgery
Full Text Available Background: Sturge-Weber syndrome is one of the rare neurocutaneous disorders with frequency of approximately 1 per 50,000. Sturge-Weber syndrome consists of a constellation of symptoms and signs including a facial nevus (port wine stain, seizure and hemiparesis. In many cases it may associate with mental retardation. Case presentation: A 7- year old girl with mental retardation and a large facial nevus at the birth time, recurrent severe seizures and drolling in 9 months of life without any treatment, was admitted because of severity of seizure, headache and weakness. Conducted follow up on here, indicated that she had Sturge –Weber syndrome with oro- maxilla -facial osteodystrophy. Conclusion: One of the rare radiological symptoms in Sturge Weber syndrome is oro-maxillo-facial osteodystrophy, by this time only few cases had been reported. All of the symptoms of this syndrome were found in our described patient
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.
Lee, Jonathan J; Granter, Scott R; Laga, Alvaro C; Saavedra, Arturo P; Zhan, Qian; Guo, Weimin; Xu, Shuyun; Murphy, George F; Lian, Christine G
Sentinel lymph node biopsies are conducted to stage patients with newly diagnosed melanomas that have histopathological attributes conferring defined levels of metastatic potential. Because benign nevic cells may also form 'deposits' in lymph nodes (nodal nevus), the pathological evaluation for metastatic melanoma within sentinel lymph nodes can be challenging. Twenty-eight sentinel lymph node biopsy cases containing either metastatic melanoma (N=18) or nodal nevi (N=10) were retrieved from the archives of the Brigham and Women's Hospital, Department of Pathology (2011-2014). In addition, two sentinel lymph node cases that were favored to represent metastatic disease but whose histopathological features were viewed as equivocal, with melanoma favored, were also included. Dual labeling for the melanocyte lineage marker, MART-1, and the epigenetic marker, 5-hydroxymethylcytosine, a functionally significant indicator that has been shown to distinguish benign nevi from melanoma, was performed on all cases using immunohistochemistry and/or direct immunofluorescence. All (18 of 18) metastatic melanoma cases showed complete loss of 5-hydroxymethylcytosine nuclear staining in MART-1-positive cells, and all (10 of 10) nodal nevus cases demonstrated 5-hydroxymethylcytosine nuclear staining in MART-1-positive cells. In addition, 5-hydroxymethylcytosine staining confirmed the favored diagnoses of metastatic melanoma in the two 'equivocal' cases. Thus, 5-hydroxymethylcytosine may be a useful adjunctive marker to distinguish between benign nodal nevi and metastatic melanoma during the evaluation of sentinel lymph node biopsies for metastatic melanoma.
Lee, Weon Ju; Cha, Hyun Wuk; Lim, Hyun Jung; Lee, Seok-Jong; Kim, Do Won
Sebaceous glands are known to affect hair growth. Nevus sebaceus, a sebaceous gland hamartomas, presents as hairless patches. In this study, cultures of nevus sebaceus sebocytes (NSS) and normal scalp hair follicle sebocytes (NS) were used in performance of microarray, RT-PCR, western blot assay and immunofluorescence staining. NSS- and NS-conditioned media were also added to the culture of outer root sheath cells (ORSCs), dermal papilla cells (DPCs) or normal scalp hair follicle sebocytes. Results of this study showed a decrease in the survival rate of ORSCs and DPCs and hair growth in the NSS-conditioned medium-treated group, compared with the control and NS-conditioned medium-treated groups. An increase in expression of fibroblast growth factor (FGF)-5, Dickkopf-1 and inflammatory cytokines and a decrease in expression of Wnt10b and Lef1 were observed. In conclusion, NSS showed an increase in expression of hair growth-suppressing bioactive factors, including FGF-5, and a decrease in expression of hair growth-stimulating factors. © 2012 John Wiley & Sons A/S.
Seung Il Oh
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.
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
Kazi Nilufar Moly
Full Text Available Sturge weber syndrome is a rare sporadic condition of mesodermal phacomatosis, also called encephalotrigeminal angiomatosis (synonyms : fourth phacomatosis or mother spot, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas and the skin of the face (purple colored flat cutaneous haemangiomas , typically in the ophthalmic (V1 and maxillary (V2 distributions of the trigeminal nerve. The hallmark of sturge weber syndrome is a facial cutaneous venous dilation, also referred to as a nevus flammeus or port wine stain (PWS. Because of the rarity, we report here a one & half year old male child who presented with features of the Sturge Weber Syndrome on both side of face.
Full Text Available Cells transition from spread to rounded morphologies in diverse physiological contexts including mitosis and mesenchymal-to-amoeboid transitions. When these drastic shape changes occur rapidly, cell volume and surface area are approximately conserved. Consequently, the rounded cells are suddenly presented with a several-fold excess of cell surface whose area far exceeds that of a smooth sphere enclosing the cell volume. This excess is stored in a population of bleb-like protrusions (BLiPs, whose size distribution is shown by electron micrographs to be skewed. We introduce three complementary models of rounded cell morphologies with a prescribed excess surface area. A 2D Hamiltonian model provides a mechanistic description of how discrete attachment points between the cell surface and cortex together with surface bending energy can generate a morphology that satisfies a prescribed excess area and BLiP number density. A 3D random seed-and-growth model simulates efficient packing of BLiPs over a primary rounded shape, demonstrating a pathway for skewed BLiP size distributions that recapitulate 3D morphologies. Finally, a phase field model (2D and 3D posits energy-based constitutive laws for the cell membrane, nematic F-actin cortex, interior cytosol, and external aqueous medium. The cell surface is equipped with a spontaneous curvature function, a proxy for the cell surface-cortex couple, that is a priori unknown, which the model "learns" from the thin section transmission electron micrograph image (2D or the "seed and growth" model image (3D. Converged phase field simulations predict self-consistent amplitudes and spatial localization of pressure and stress throughout the cell for any posited stationary morphology target and cell compartment constitutive properties. The models form a general framework for future studies of cell morphological dynamics in a variety of biological contexts.
Kwa, V. I.; Smitt, J. H.; Verbeeten, B. W.; Barth, P. G.
A 5-month-old girl presented with infantile spasms and psychomotor retardation. She was born with epidermal nevi on the right side of the head, the right arm and the back. MRI of the head showed a right hemimegalencephaly limited to the temporal lobe. There were no MRI signs of neocortical
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
Full Text Available A 61-year-old woman, with a lifelong history of a giant congenital melanocytic nevus in the occipital region with secondary development of giant melanoma is presented. Surgical excision was performed, and the histopathological evaluation confirmed the diagnosis of Giant Malignant Melanoma (GMM with a maximum tumour thickness of 16 mm. Nowadays, there is tremendous uncertainty regarding how giant congenital melanocytic nevi (GCMN should be treated. The standard approach to patients with late onset giant congenital melanocytic nevi (GCMN is based on two main considerations: (1 obtain an acceptable cosmetic results with the purpose to decrease the psychosocial inconvenience to each patient, and (2 to attempt to minimise the risk of development of malignant transformation. Unfortunately complete surgical removal of the GCMN is usually difficult and very often impossible without subsequent functional or cosmetic mutilations.
Saifaldeen, Reda Hesham; Fatani, Mohammad I; Baltow, Badee; Khan, Abdulmajeed S
Linear psoriasis is a rare form of the disease characterized by the linear distribution of lesions involving dermatome or along Blaschko's lines. Clinically, it may resemble inflammatory linear verrucous epidermal nevus; a combination of history, skin examination, and histopathology are required to ensure correct diagnosis and appropriate therapy. This paper describes a case of a 23-year-old male presenting with unilateral erythematous scaly plaques arranged in a linear path on the left leg. Etanercept was initiated after poor response to adalimumab. Improvement of his psoriasis was noted, with PASI 75 reduction after 24 weeks of treatment. Clinical studies have shown excellent efficacy of etanercept, and our patient well tolerated treatment with etanercept for 52 weeks without any adverse effects.
Маргарита Сергеевна Цыплакова
Full Text Available This article describes a rare case of congenital anomalies: giant melanocytic nevus of the face. Errors in the choice of treatment strategy of children with this disease and their complications can lead to poor aesthetic and functional results. When choosing a method of plastic eliminate defects formed after removal of nevi, it is necessary to take into account anatomical features of the maxillofacial region. The department developed the scheme of complex treatment of these patients. Surgical treatment in combination with massage and myogymnastics, regular medical observation, provides a good aesthetic results. Integrated approach in the treatment of children with giant nevi of the face allows for an early medico-social rehabilitation of children with this pathology.
J.F. Arango Ospina
Full Text Available Presentamos el caso de un paciente de 2 años de edad, conocido en su pueblo, como "el niño tortuga (testudines" debido a la gran similitud con dicho reptil. Desde su nacimiento presentó nevus melanocítico gigante localizado en región torácica posterior, región lumbosacra y lesiones satélites en extremidades y abdomen, de 50 por 40cm de diámetro y color café oscuro; la piel en las zonas afectadas es gruesa con grandes surcos de aspecto corrugado (cerebriforme. El nombre dado al niño se basa en la similitud de sus lesiones con la morfología de una tortuga, ya que el caparazón cubre la zona superior, inferior y lateral del cuerpo de este animal, de la misma forma que el nevus gigante lo hacía en el caso de nuestro paciente. Este caparazón está formado por placas óseas revestidas de placas corneas, que se asemejan a los surcos de aspecto corrugado que conforman el nevus melanocítico gigante. Los estudios clínicos practicados revelaron compromiso cardiovascular, hepático y esplénico, así como una desfavorable evolución y pronostico del cuadro clínico, por lo que esta patología, específicamente para este niño y de acuerdo a la junta Médico-Quirúrgica y valoraciones, fue considerada inoperable.We present the case of a 2 years-old patient, known in his town as "turtle boy"(testudines due to his great simility with this reptile because of his giant congenital melanocytic nevus, located in the posterior and lateral aspect of the chest and in smaller proportion in abdomen and extremities, of 50 by 40cm and dark brown colour. The skin in this zone is thick with great furrows and corrugated aspect. He was called "turtle boy" based on the morphology of the turtle, its shell covers the superior, inferior and lateral zone like in our patient's case. It is formed by bone layers covered by cornea layers, which resemble the furrows and corrugated aspect of the giant congenital melanocytic nevus. Medical investigation reveals
Larsen, Anna Karina; Lametsch, Rene; Elce, John S.
Dynamic regulation of the actin-cytoskeleton is essential to cell motility, spreading, and the formation of membrane surface extensions like lamellipodia, ruffles and blebs. The ubiquitous calpains contribute to integrin-mediated cytoskeletal remodelling during cell migration and spreading, by cl...
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.
Sturm, Richard A; Fox, Carly; McClenahan, Phil; Jagirdar, Kasturee; Ibarrola-Villava, Maider; Banan, Parastoo; Abbott, Nicola C; Ribas, Gloria; Gabrielli, Brian; Duffy, David L; Peter Soyer, H
A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene. In a clinical assessment of nevi from 301 volunteers taken from Queensland, we identified six individuals as MITF E318K mutation carriers. The phenotype for 5 of these individuals showed a commonality of fair skin, body freckling that varied over a wide range, and total nevus count between 46 and 430; in addition, all were multiple primary melanoma patients. The predominant dermoscopic signature pattern of nevi was reticular, and the frequency of globular nevi in carriers varied, which does not suggest that the MITF E318K mutation acts to force the continuous growth of nevi. Excised melanocytic lesions were available for four MITF E318K carrier patients and were compared with a matched range of wild-type (WT) melanocytic lesions. The MITF staining pattern showed a predominant nuclear signal in all sections, with no significant difference in the nuclear/cytoplasmic ratio between mutation-positive or -negative samples. A high incidence of amelanotic melanomas was found within the group, with three of the five melanomas from one patient suggesting a genetic interaction between the MITF E318K allele and an MC1R homozygous red hair color (RHC) variant genotype.
Kim Hyoung Kyu
Full Text Available Abstract Background A giant congenital melanocytic nevus (GCMN is a malformation of the pigment cells. It is a distress to the patients for two reasons: one is disfigurement, and the other is the possibility of malignant changes. However, the underlying mechanisms of the development of GCMN and melanotumorigenesis in GCMN are unknown. Hence, the aim of this study was to identify the proteomic alterations and associated functional pathways in GCMN. Results Proteomic differences between GCMN (n = 3 and normal skin samples (n = 3 were analyzed by one-dimensional-liquid chromatography-tandem mass spectrometry Relative levels of the selected proteins were validated using western blot analysis. The biological processes associated with the abundance modified proteins were analyzed using bioinformatic tools. Among the 46 abundance modified proteins, expression of 4 proteins was significantly downregulated and expression of 42 proteins was significantly upregulated in GCMN compared to normal skin samples (p Conclusion These findings suggest that GCMN exhibits potential proteomic alterations, which may play a role in melanotumorigenesis, and the significant alteration of 14-3-3 family proteins could be a key regulator of the biological pathway remodeling in GCMN.
Full Text Available Los nevus melanocíticos gigantes congénitos son muy infrecuentes. Su incidencia de malignización varía según las series clínicas entre el 2 y el 45%. Este riesgo de malignización y los problemas de adaptación psicosocial que suelen acarrear hacen recomendable el inicio del tratamiento quirúrgico de este tipo de lesiones antes de la edad escolar. Presentamos el caso de un niño de 7 años de edad con nevus melanocítico congénito gigante que afectaba a la espalda y al flanco derecho, de 30 x 19 cm de diámetro. Desarrollamos un protocolo terapéutico mediante programación de intervenciones quirúrgicas seriadas de mínima morbilidad, con postoperatorio simple y poco doloroso. En un primer tiempo realizamos extirpación de la lesión con bisturí ultrasónico y cobertura temporal del defecto creado con dermis artificial. En un segundo tiempo intentamos cobertura definitiva con piel cultivada autóloga, siendo necesario un tercer tiempo de cobertura con autoinjerto de espesor ultrafino. En este caso, el sistema de terapia de presión negativa VAC® mostró su eficacia para inmovilizar los apósitos de forma segura, indolora y en régimen ambulatorio.Giant congenital melanocytic nevi are very uncommon. Malignization incidence varies according to clinical series between 2 and 45%. This risk of malignization and psychosocial adaptation problems make necessary to begin the surgical treatment before school age. We present a 7-year-old child with a giant melanocytic nevus in the back and right flank, 30 x 19 cm in size. A therapeutic protocol using serial surgical interventions with minimal morbidity and an easy and painless postoperative care were developed. In the first surgery we removed the nevus with ultrasonic scalpel and used artificial dermis as a temporary coverage. In the second time we tried to complete the definitive coverage with autologous cultured skin, but we needed a third time to apply definitive ultrathin skin autograft. In
Fischbein, N.J.; Barkovich, A.J.; Wu, Y.; Berg, B.O.
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by a facial nevus flammeus associated with seizures, developmental delay, and, often, with hemiparesis and hemianopia. On MRI, the most characteristic finding has been reported to be leptomeningeal enhancement, believed to represent leakage of contrast medium through the anomalous pial vessels that characterize the disease. We present a case of SWS with no evidence of leptomeningeal enhancement. This case illustrates that leptomeningeal enhancement need not be present in SWS, and the absence of this characteristic finding does not preclude the diagnosis. (orig.)
Kim, Ha Youn; Chang, Yun Woo; Lee, Dong Hwan [Soonchunhyang Univ. Hospital, Seoul (Korea, Republic of)
Klippel Trenaunay Weber syndrome (KTWS) is a rare congenital disorder, characterized by a cutaneous vascular nevus of the involved extremity, vascular malformations, bone and soft tissue hypertrophy of the extremity. We present the case of an 18 year old female patient with KTWS, showing a marked rectosigmoid wall thickening and phlebolith, and also variable sized cystic masses in the spleen, as a result of vascular malformations.
Full Text Available We present a 6-month-old male patient, who was consulted with dermatologist by his parents, because of a pigmented lesion, present since birth, covering almost the all skin of the back and buttocks. A sharply bordered, unequally coloured congenital pigmented nevus, measuring approximately 21 cm in diameter was observed in the whole body skin examination. The lesion was affecting the lower 2/3 of the skin of the back and the top half of the gluteus area, extending to the lateral part of the tors, forward the abdomen and the upper lateral part of the hips, composed by multiple darker-pigmented nests and several lighter areas, with single depigmented zones, hairy surface, irregularly infiltrated on palpation. Congenital melanocytic nevi are presented in approximately 1% of newborns, while giant congenital melanocytic nevi (GCMN are the most uncommon subtype of them; with occurrence rate 1 in 50,000 births. They affect 2% of a total body surface or presenting in a diameter larger than 20 cm in older children. Although not common, the possible malignant transformation remains one of the most important considerations related to them, as the related lifetime risk of melanoma is 4% to 10%. Treatment recommendations include non-surgical methods as dermabrasion only within the first two weeks of life, for prevention the possible melanocytic deeper migration, while serial surgical excisions or tissue expanders could be useful treatment tool even in later stages. Nevertheless, cosmetic result is not always satisfactory, and the risk of malignant changes remains, in cases of previous melanocytic migration in deeper layer. Recent article suggests the potential role in the treatment of GCMN with NRAS inhibitor trametinib, approved for treatment of advanced melanoma, associated with underlying NRAS mutations. Although promising, the drug could be useful in paediatric patients, only with associated NRAS gene mutation. It is still unclear whether it could be
Requena, Celia; Botella, Rafael; Nagore, Eduardo; Sanmartín, Onofre; Llombart, Beatriz; Serra-Guillén, Carlos; Guillén, Carlos; Requena, Luis; Traves, Victor
The different features of spitzoid melanoma are not well characterized in the literature, and the lesion often has to be described in comparison with Spitz nevus. We evaluated the histopathological appearance of spitzoid melanoma by reviewing all spitzoid melanomas treated at our hospital and all referrals from 1998 to 2010. The final study sample comprised 18 cases, 11 from our institution and 7 referrals from other centers. We recorded clinical parameters (eg, age, sex, site, time between onset and excision, recurrence, and death) and a series of histopathological parameters (eg, size, ulceration, symmetry, Clark level, Breslow thickness, cell density, atypia, mitosis). Clinical and histopathological criteria were not available for the 7 referrals. Mean age was 35.2 years (15-56), and 8 patients were women. Mean size of the lesions was 7.27 mm (Clark III/IV and Breslow 2.51 mm), and these were found on the limbs and trunk. Cell density was high in 10 cases and atypia present in 9 (marked in 1). Mitoses were observed in 8 cases (atypical in 4, clusters in 4). Maturation was absent in 9 cases and zonation in 8. Our analysis revealed 5 previously undefined subtypes of spitzoid melanoma (genuine (7 cases), uniform (5 cases), packed (5 cases), polypoid (3 cases) and pigmented (2 cases)]. Four cases showed 2 patterns at the same time. The most useful parameters for the differential diagnosis were cell density, mitosis, zonation, infiltration pattern, and consumption of the epidermis. Assignation of a spitzoid melanoma to 1 of more of our 5 subtypes can enable a more confident diagnosis to be made.
The author studied the relationship between facial nevus and intracranial changes seen on cranial computed tomography (CCT) scannings in 12 children with typical Sturge-Weber syndrome. The evaluation of epileptic attacks, repeat EEG and cranial CT examinations with or without enhancement during the follow-up period of 8 years in average were analysed. In 7 cases (58.3 %), the dominant side of facial hemangioma was identical with that of calcification on CCT. Three cases of central facial nevus showed calcification in one hemisphere, on either side. One who had facial nevus on one side showed dominant calcification on the other side on CT. The area and side of the facial nevus did not always coincide with those of the intracranial lesion. In 4 of the 9 patients who were followed up by repeat CCT, we recognized increases in degree of brain atrophy with or without increases in the area of calcification. In the enhancement study, 6 patients (89 %) showed positive choroid plexus images with abnormal enhancement on the same side as the calcification. On EEG 5 cases showed epileptiform activity over the hemisphere with calcification, and 3 showed it on the intact side of the brain.
Ana Maria Costa Pinheiro
Full Text Available O nevo de Spitz é uma lesão melanocítica benigna com características clínicas e histopatológicas semelhantes às do melanoma. Foi descrito em 1948, mas até hoje, ainda, existe grande controvérsia no seu diagnóstico e conduta. A utilização da dermatoscopia pode aumentar a sua acurácia diagnóstica. As características dermatoscópicas do nevo de Spitz incluem um padrão estelar (starburst, que é o mais frequente, seguido do padrão globular e do padrão atípico. O diagnóstico deve ser confirmado por exame histopatológico, principalmente, nos casos atípicos.The Spitz nevus is a benign melanocytic lesion with clinical and histopathological features similar to those of melanoma. It was first described in 1948 but great controversy still remains today with respect to its diagnosis and management. The use of dermoscopy may increase diagnostic accuracy. In Spitz nevus, the most common dermoscopic finding is a starburst-like pattern, followed by globular and atypical patterns. Diagnosis must be confirmed by histopathology, particularly in atypical cases.
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: email@example.com [Institute for Genetics, Justus-Liebig-University Giessen, D-35392 Giessen (Germany)
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.
Torres-Cruz, Francisco M; Rodríguez-Cruz, Fanny; Escobar-Herrera, Jaime; Barragán-Andrade, Norma; Basurto-Islas, Gustavo; Ripova, Daniela; Ávila, Jesús; Garcia-Sierra, Francisco
Abnormal aggregation of Tau in glial cells has been reported in Alzheimer's disease (AD) and other tauopathies; however, the pathological significance of these aggregates remains unsolved to date. In this study, we evaluated whether full-length Tau (Tau441) and its aspartic acid421-truncated Tau variant (Tau421) produce alterations in the normal organization of the cytoskeleton and plasma membrane (PM) when transiently expressed in cultured C6-glial cells. Forty-eight hours post-transfection, abnormal microtubule bundling was observed in the majority of the cells, which expressed either Tau441 or Tau421. Moreover, both variants of Tau produced extensive PM blebbing associated with cortical redistribution of filamentous actin (F-Actin). These effects were reverted when Tau-expressing cells were incubated with drugs that depolymerize F-Actin. In addition, when glial cells showing Tau-induced PM blebbing were incubated with inhibitors of the Rho-associated protein kinase (ROCK) signaling pathway, both formation of abnormal PM blebs and F-Actin remodeling were avoided. All of these effects were initiated upstream by abnormal Tau-induced microtubule bundling, which may release the microtubule-bound guanine nucleotide exchange factor-H1 (GEF-H1) into the cytoplasm in order to activate its major effector RhoA-GTPase. These results may represent a new mechanism of Tau toxicity in which Tau-induced microtubule bundling produces activation of the Rho-GTPase-ROCK pathway that in turn mediates the remodeling of cortical Actin and PM blebbing. In AD and other tauopathies, these Tau-induced abnormalities may occur and contribute to the impairment of glial activity.
Full Text Available The dentigerous cyst is one of the most common developmental odontogenic cysts in the jaw. Occurrence of the bilateral dentigerous cyst is uncommon, and frequently associated with syndromes like basal cell nevus syndrome or cleidocranial dysplasia. There are few reports on the presence of bilateral dentigerous cyst in nonsyndromic patients, and most of these are associated with first and third molars. The reported case in this paper is bilateral dentigerous cysts associated with mandibular permanent second premolars, in the absence of any signs of syndrome. To our knowledge bilateral dentigerous cysts in these locations have not been previously reported.
Full Text Available The dentigerous cyst is one of the most common developmental odontogenic cysts in the jaw. Occurrence of the bilateral dentigerous cyst is uncommon, and frequently associated with syndromes like basal cell nevus syndrome or cleidocranial dysplasia. There are few reports on the presence of bilateral dentigerous cyst in nonsyndromic patients, and most of these are associated with first and third molars. The reported case in this paper is bilateral dentigerous cysts associated with mandibular permanent second premolars, in the absence of any signs of syndrome. To our knowledge bilateral dentigerous cysts in these locations have not been previously reported.
Liu, Yan; Zeng, Weihui; Li, Di; Wang, Weihua; Liu, Feng
Nevus of Ota can be treated successfully using the Q-switched (QS) laser; but few studies are long-term retrospective of the efficacy and influencing factor, studies on the recurrence is even less. Retrospective analysis of the clinical characteristics and recurrence of QS Nd:YAG laser treatment of nevus of Ota in 224 Chinese patients at Laser Cosmetology Center of Department of Dermatology, the Second Hospital, Xi'an Jiaotong University. The data of 224 patients with nevus of Ota were analyzed retrospectively, which included the correlation among lesion color, treatment sessions, gender, age, lesion types and effect, and all patients were followed up for 2-10 years. Higher number of treatment sessions that were conducted using the QS Nd:YAG laser system was positively associated with better responses to treatment. 99.11% of patients acquired more than 75% improvement with an average of 3.7 sessions. Only eight patients (3.57%) who had been completely cleared developed recurrence at the same site as before. The treatment of nevus of Ota with QS Nd:YAG laser is safe and effective with rare recurrence.
Full Text Available Beckwith–Wiedemann syndrome (BWS, OMIM 130650 is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia, cardiac defects, nevus flammeus, hemangiomata, and an increased frequency of embryonal tumors. This article provides an overview of BWS including the genetics, genetic diagnosis, genotype/epigenotype–phenotype correlations, association with assisted reproductive technology, and prenatal diagnosis. Omphalocele is an important sonographic marker for BWS. Prenatal detection of omphalocele, fetal overgrowth, polyhydramnios, increased abdominal circumference, placentomegaly and/or placental mesenchymal dysplasia should alert one to the possibility of BWS and prompt a genetic investigation and counseling for BWS.
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.
Tadokoro, Ryosuke; Murai, Hidetaka; Sakai, Ken-Ichiro; Okui, Takahiro; Yokota, Yasuhiro; Takahashi, Yoshiko
During skin pigmentation in amniotes, melanin synthesized in the melanocyte is transferred to keratinocytes by a particle called the melanosome. Previous studies, mostly using dissociated cultured cells, have proposed several different models that explain how the melanosome transfer is achieved. Here, using a technique that labels the plasma membrane of melanocytes within a three-dimensional system that mimics natural tissues, we have visualized the plasma membrane of melanocytes with EGFP in chicken embryonic skin. Confocal time-lapse microscopy reveals that the melanosome transfer is mediated, at least in part, by vesicles produced by plasma membrane. Unexpectedly, the vesicle release is accompanied by the membrane blebbing of melanocytes. Blebs that have encapsulated a melanosome are pinched off to become vesicles, and these melanosome-containing vesicles are finally engulfed by neighboring keratinocytes. For both the membrane blebbing and vesicle release, Rho small GTPase is essential. We further show that the membrane vesicle-mediated melanosome transfer plays a significant role in the skin pigmentation. Given that the skin pigmentation in inter-feather spaces in chickens is similar to that in inter-hair spaces of humans, our findings should have important consequences in cosmetic medicine.
Full Text Available Sturge-Weber syndrome (SWS is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma, and choroidal hemangioma and leptomeningeal angioma most often involving occipital and parietal lobes. The present paper reports three cases of SWS with oral manifestations and periodontal management, which included thorough scaling and root planing followed by gingivectomy with scalpel and laser in cases 1 and 3 consecutively to treat the gingival enlargement. However, the treatment in case 2 was deferred as the patient was not a candidate for periodontal surgery.
Gamo, R; Floristan, U; Pampín, A; Caro, D; Pinedo, F; López-Estebaranz, J L
The clinical distinction between basal cell carcinoma (BCC) and intradermal melanocytic nevus lesions on the face can be difficult, particularly in young patients or patients with multiple nevi. Dermoscopy is a useful tool for analyzing characteristic dermoscopic features of BCC, such as cartwheel structures, maple leaf-like areas, blue-gray nests and dots, and ulceration. It also reveals arborizing telangiectatic vessels and prominent curved vessels, which are typical of BCC, and comma vessels, which are typical of intradermal melanocytic nevi. It is, however, not always easy to distinguish between these 2 conditions, even when dermoscopy is used. We describe 2 facial lesions that posed a clinical and dermoscopic challenge in two 38-year-old patients; confocal microscopy showed separation between tumor nests and stroma and polarized nuclei, which are confocal microscopy features of basal cell carcinoma. Copyright © 2014 Elsevier España, S.L.U. y AEDV. All rights reserved.
Correia de Sá, Tiago Ribeiro; Silva, Roberto; Lopes, José Manuel
Basal cell carcinoma (BCC) is the most common skin cancer worldwide with increasing incidence, but difficult to assess due to the current under registration practice. Despite the low mortality rate, BCC is a cause of great morbidity and an economic burden to health services. There are several risk factors that increase the risk of BCC and partly explain its incidence. Low-penetrance susceptibility alleles, as well as genetic alterations in signaling pathways, namely SHH pathway, also contribute to the carcinogenesis. BCC associate with several genetic syndromes, of which basal cell nevus syndrome is the most common.
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
Marina Leite da Silveira
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.
Kim, S D; Kim, S W; Huh, C H; Suh, D H; Eun, H C
The aim of the study was to objectify the effect of a Q-switched Nd-YAG laser on Ota's nevus in view of barrier function, surface contour changes, dermal blood flow, surface color changes and sebum production rate. Fifteen Korean patients with nevus of Ota (between 14 and 54 years of age) were enrolled. All the patients were treated by Q-switched Nd-YAG laser and followed up for 12 weeks. A reflectance spectrophotometer, a colorimeter, laser Doppler flowmetry, a Tewameter, a Corneometer and a Sebumeter were used to make measurements. Pvalues of less than 0.05 were regarded as statistically significant. In skin reflectance measurements, L* values declined for 4 weeks and increased at 12 weeks, indicating that the brightness of the lesions improved. a* values showed a significant increase at 2 and 4 weeks. On the contrary, b* values decreased at 2 weeks. Transepidermal water loss and dermal blood flux showed identical patterns, showing increases at 2 weeks. The water holding capacity decreased at 2 and 4 weeks, and thereafter showed a delayed recovery. Casual sebum production increased at 4, 8 and 12 weeks. The loss of skin roughness was observed at 4 weeks, recovering at 12 weeks, although statistically insignificant. Reflex spectrophotometry did not reflect the changing properties of the skin. Our data suggest a useful model for evaluating physiologic skin changes after laser surgery in patients with nevus of Ota.
Rink, T.; Baum, R.P.; Hoer, G.; Menzel, I.; Niemczyk, M.; Kaufmann, R.; Fuchs, S.; Heller, K.
A three-year-old male patient presented already at his birth a disproportional macrosomia of the left foot and a large, nodular nevus flammeus, in the left hip region, which led to the tentative diagnosis of a Klippel-Trenaunay syndrome. In the following years, both changes showed a continuous progression, with distinct soft-tissue swelling as well as papillomatous and verruciform vegetations of the nevus. Additionally, large, plain subcutaneous masses developed under the right shoulder, and a macrodactyly of the first and second left toe could be observed. Although several examinations had been performed in the meantime, the tentative diagnosis could not be confirmed up to that time. On the occasion of a severe local infection in the hip region, which led to the consideration of a surgical therapy, a radionuclide lymphography, a blood pool scintigraphy including dynamic phlebography and ventriculography as well as a bone scintigraphy were performed. These examinations were done simultaneously at one day in order to avoid a longer period of immobilization. The findings led to the diagnosis of a large lymphangioma, which could be confirmed histologically after surgery. In consideration of all results, the basic disorder seems to be the rare proteus syndrome rather than a Klippel-Trenaunay syndrome. (orig.) [de
Schaumburg, F.; Guarnieri, F. A.
A 3D anatomical computational model is developed to assess thermal effects due to exposure to the electromagnetic field required to power a new investigational active implantable microvalve for the treatment of glaucoma. Such a device, located in the temporal superior eye quadrant, produces a filtering bleb, which is included in the geometry of the model, together with the relevant ocular structures. The electromagnetic field source—a planar coil—as well as the microvalve antenna and casing are also included. Exposure to the electromagnetic field source of an implanted and a non-implanted subject are simulated by solving a magnetic potential formulation, using the finite element method. The maximum SAR10 is reached in the eyebrow and remains within the limits suggested by the IEEE and ICNIRP standards. The anterior chamber, filtering bleb, iris and ciliary body are the ocular structures where more absorption occurs. The temperature rise distribution is also obtained by solving the bioheat equation with the finite element method. The numerical results are compared with the in vivo measurements obtained from four rabbits implanted with the microvalve and exposed to the electromagnetic field source.
Zihni, Ceniz; Mitsopoulos, Costas; Tavares, Ignatius A; Baum, Buzz; Ridley, Anne J; Morris, Jonathan D H
We have demonstrated previously that full-length prostate-derived sterile 20-like kinase 1-alpha (PSK1-alpha) binds to microtubules via its C terminus and regulates their organization and stability independently of its catalytic activity. Here we have shown that apoptotic and microtubule-disrupting agents promote catalytic activation, C-terminal cleavage, and nuclear translocation of endogenous phosphoserine 181 PSK1-alpha and activated N-terminal PSK1-alpha-induced apoptosis. PSK1-alpha, unlike its novel isoform PSK1-beta, stimulated the c-Jun N-terminal kinase (JNK) pathway, and the nuclear localization of PSK1-alpha and its induction of cell contraction, membrane blebbing, and apoptotic body formation were dependent on JNK activity. PSK1-alpha was also a caspase substrate, and the broad spectrum caspase inhibitor benzyloxycarbonyl-VAD-fluoromethyl ketone or mutation of a putative caspase recognition motif ((916)DPGD(919)) blocked nuclear localization of PSK1-alpha and its induction of membrane blebs. Additional inhibition of caspase 9 was needed to prevent cell contraction. PSK1-alpha is therefore a bifunctional kinase that associates with microtubules, and JNK- and caspase-mediated removal of its C-terminal microtubule-binding domain permits nuclear translocation of the N-terminal region of PSK1-alpha and its induction of apoptosis.
Full Text Available BACKGROUND: Congenital melanocytic nevi (CMN are pigmented skin lesions usually present at birth. Rare varieties can develop and become clinically very large. Although they are benign nevomelanocytic neoplasms, all CMN may be precursors of the melanoma, regardless of their size. Individual risk of malignant transformation of melanocyte is determined by simultaneous action of exogenous and endogenous factors. The major exogenous risk factor is ultraviolet radiation. Leading roles among the endogenous factors are attributed to skin phenotype, gene mutation, sex hormones and their significance. CASE REPORT: We present a case of a 27 – year - old pregnant female patient with a congenital melanocytic nevus, which increased significantly in size, during her pregnancy. Estrogen levels increase during pregnancy and clinical evidence has suggested that melanocytes are estrogen - responsive. Nevi in a pregnant patient would exhibit increased expression of estrogen receptor β (ERβ and thus enhanced the potential to respond to altered estrogen levels. CONCLUSION: All pigmented skin lesions should be carefully observed during pregnancy by a dermatologist due to the increased risk of malignant transformation, associated with the endocrine dependence. All lesions with visible changes should be removed surgically with appropriative anaesthesia.
Osman, Mai Abdel Raouf; Kassab, Ahmed Nazmi
A verrucous epidermal nevus (VEN) is a skin disorder that has been treated using different treatment modalities with varying results. Ablative lasers such as carbon dioxide laser (CO 2 ) and erbium:yttrium-aluminum-garnet (Er:YAG) laser have been considered as the gold standard for the treatment of epidermal nevi. To evaluate and compare the efficacy, postoperative wound healing and side effects of pulsed CO 2 laser and Er:YAG laser for the treatment of verrucous epidermal nevi. Twenty patients with localized VEN were randomly divided into two groups. Group 1 was administered CO 2 laser and group 2 underwent Er:YAG laser treatment. A blinded physician evaluated the photographs and dermoscopic photomicrographs for the efficacy and possible side effects. All patients received one treatment session and were followed up over a 6-month period. Both lasers induced noticeable clinical improvement, but there were no significant differences between two lasers in treatment response, patient satisfaction, duration of erythema and side effects. The average time to re-epithelialization was 13.5 days with CO 2 and 7.9 days with Er:YAG laser (plaser group and no lesional recurrence was detected in CO 2 laser group since treatment. Apart from re-epithelialization, both lasers showed equivalent outcomes with respect to treatment response, patient satisfaction, side effects and complications.
Sato, Hiromi; Frank, Dara W
Pseudomonas aeruginosa is an opportunistic pathogen that is associated with hospital-acquired infections, ventilator-associated pneumonia, and morbidity of immunocompromised individuals. A subpopulation of P. aeruginosa encodes a protein, ExoU, which exhibits acute cytotoxicity. Toxicity is directly related to the phospholipase A2 activity of the protein after injection into the host cytoplasm via a type III secretion system. ExoU enzymatic activity requires eukaryotic cofactors, ubiquitin or ubiquitin-modified proteins. When administered extracellularly, ExoU is unable to intoxicate epithelial cells in culture, even in the presence of the cofactor. Injection or transfection of ExoU is necessary to observe the acute cytotoxic response. Biochemical approaches indicate that ExoU possesses high affinity to a multifunctional phosphoinositide, phosphatidylinositol 4,5-bisphosphate or PI(4,5)P2 and that it is capable of utilizing this phospholipid as a substrate. In eukaryotic cells, PI(4,5)P2 is mainly located in the cytoplasmic side of the plasma membrane and anchors adaptor proteins that are involved in cytoskeletal structures, focal adhesions, and plasma membranes. Time-lapse fluorescent microscopy analyses of infected live cells demonstrate that ExoU intoxication correlates with intracellular damage in the early phases of infection, such as disruption of focal adhesions, cytoskeletal collapse, actin depolymerization, and cell rounding. At later time points, a membrane blebbing phenotype was prominent prior to the loss of the plasma membrane integrity and barrier function. Membrane blebbing appears to accelerate membrane rupture and the release of intracellular markers. Our data suggest that in eukaryotic host cells, intracellular ExoU targets and hydrolyzes PI(4,5)P2 on the plasma membrane, causing a subsequent disruption of cellular structures and membrane integrity.
Stranzinger, E.; Huisman, T.A.G.M.
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.) [de
Murakami, Masamoto; Wada, Takashi; Kashiwagi, Takayuki; Ishida-Yamamoto, Akemi; Iizuka, Hajime
The clinical and histopathological similarities of nodular melanoma and Spitz nevus currently still make a definitive diagnosis difficult. We report here a case of nodular melanoma that was extremely difficult to diagnose both clinically and histopathologically. The primary tumor was a blackish nodule on the scalp and biopsy was performed for pathological diagnosis. Although our first impression was malignant melanoma, we asked two dermatopathologists for second opinions; however, one diagnosed a melanoma and the other a Spitz nevus. Faced with this clinical dilemma, an operation was performed with sentinel node biopsy. Only one sentinel node suggested a metastasis. Histopathological diagnosis to establish whether it was a melanoma metastasis or nodal nevi was also difficult, and we again asked for second opinions from another dermatopathologist in the USA. According to its clinical course and the histopathology of the sentinel lymph node with additional immunohistochemistry, this case was finally diagnosed as a nodular melanoma (T4aN1aM0, stage IIIA). To date, the patient has been given five courses of chemotherapy at 6-month intervals, with no local recurrence or distant metastases so far.
Carolina Barbosa Bruno
Full Text Available O siringocistoadenoma papilífero é uma neoplasia anexial benigna rara, com frequente diferenciação apócrina. Localiza-se preferencialmente no couro cabeludo e está associado ao nevo sebáceo em 40% dos casos. Apesar da variabilidade clínica, a histologia é característica. Há relatos da dermatoscopia de tumores anexiais, como poroma écrino, hidradenoma e angio-histiocitoma; porém, até o momento, não há descrição da dermatoscopia do siringocistoadenoma. Apresentamos aspectos dermatoscópicos de um caso de siringocistoadenoma associado a nevo sebáceo, visualizando-se padrão vascular polimorfo e vasos em ferradura.Syringocystadenoma papilliferum is a rare benign adnexal tumor that frequently shows apocrine differentiation. It usually develops on the scalp and is associated with a nevus sebaceus in 40% of cases. Although the clinical presentation may differ, its histology is characteristic. Reports have been made of dermoscopy used in cases of adnexal tumors such as eccrine poromas, hidradenomas and angiohistiocytomas; however, up to the present moment there have been no reports of dermoscopy in a case of syringocystadenoma. This paper describes the dermoscopic features found in a case of syringocystadenoma associated with a nevus sebaceus, revealing a polymorphous vascular pattern including a horseshoe-shaped arrangement of vessels.
Francisco Fumero González
Full Text Available La trabeculectomía es uno de los tratamientos de elección en los pacientes con glaucoma. La causa más común de fallo de esta cirugía en su primer trimestre es la bula de filtración encapsulada. Usualmente es resultado de la proliferación fibrótica subconjuntival que lleva a fallo de la bula, como por ejemplo en los glaucomas traumáticos. La revisión con agujas y la mitomicina C constituyen una opción efectiva y relativamente segura para restaurar la función de la cirugía de filtración. Se presenta un paciente donde se restableció el flujo de humor acuso con este proceder.Trabeculectomy is the surgical treatment of choice for many patients with glaucoma. The most common cause of failure during the first trimester after trabeculectomy is encapsulated bleb. Generally, that results from scarring in the subconjunctival space with a resultant intrableb fibrosis and the development of a failed bleb, for example in traumatic glaucoma. Needling bleb revision with mitomycin-C appears to be an effective and relatively safe way to revive the function of the filtration surgery. This was the case report of a patient whose aqueous humor flow was reestablished with this treatment.
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
Sami, Loai; Changzheng, Huang; Yan, Li
The aim of this study was to study and analyze the factors influencing the treatment response to Q-switched alexandrite laser in patients with nevus of Ota and the factors influencing the number of laser sessions. Forty-eight patients treated with Q-switched alexandrite between 2009 and 2013 for nevus of Ota were enrolled in this retrospective, single-center study. The subjects (13 male, 35 female) were divided into three groups according to the number of treatment sessions. Patients were then called back to the hospital for a follow-up interview and examination. Single and multiple variate analyses of various factors were performed. The 48 patients were predominantly female (35 female, 13 male, F:M ratio = 2.7:1), mean age 17.2±10.41. Twenty-five (52.1%) had lesion on the right side of the face, 22 (45.8%) on the left side, and one (2.1%) on both sides. The predominant color was brown (41.7%), followed by cyan (39.6%) and lividity (18.8%). Satisfactory result was observed in all patients, after 3 to 11 treatment sessions (mean 5.37±2); 19 of these (39.6%) needed three to four sessions (short treatment sessions), 22 (45.8%) needed five to seven sessions (intermediate treatment sessions), and 7 (14.6%) needed nine to eleven sessions (long treatment sessions). The clinical response and treatment sessions of the young-age group were significantly better than the adult group. Those with higher Tanino's classification needed more treatment sessions. Dark-colored lesions, which reflect deep melanosis of the lesion, needed more sessions than lighter-colored lesions. As for skin color, better response was obtained in light-skinned patients than in dark-skinned ones. Two patients showed transient hypopigmentation that lasted for less than six months, and recurrence has been seen in one child with dark-colored lesion. Q-switched alexandrite laser is an ideal minimally-invasive method for treating nevus of Ota. Fewer treatment sessions are needed for children and younger
Carolina Porto Cotrim
Full Text Available Lesões melanocíticas adquiridas assemelhando-se à melanoma têm sido descritas nos principais grupos da Epidermólise bolhosa, e referidas como "Nevos da Epidermólise bolhosa''. Induzem facilmente ao erro diagnóstico, apesar de nenhuma transformação maligna ter sido descrita. Relatamos o desenvolvimento de um nevo melanocítico adquirido grande no local de bolhas recorrentes em uma criança de 5 anos portadora de Epidermólise bolhosa simples. O padrão dermatoscópico global foi sugestivo de benignidade, e os achados histopatológicos foram compatíveis com um nevo melanocítico composto. Este é o primeiro caso de um Nevo da Epidermólise bolhosa publicado na literatura brasileiraAcquired melanocytic lesions resembling malignant melanoma have been described in all major categories of Epidermolysis bullosa and referred to as "Epidermolysis bullosa nevi''. They easily induce to diagnostic error, although no malignant transformation has been reported. We report the development of a large acquired melanocytic nevus at a site of recurrent blisters in a 5-year-old child with Epidermolysis bullosa simplex. The global dermoscopic pattern was suggestive of benignity, and the histopathological findings were compatible with a compound melanocytic nevus. This is the first published case of Epidermolysis bullosa nevi in Brazilian literature. Despite their benign behavior, we emphasize the importance of regular clinical and dermoscopic monitoring, since a malignant course still cannot be totally excluded
Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn
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......% 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....... Curettage is a gentle alternative to excision with a lower complication rate and good cosmetic outcome....
Cohen, M Michael
Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...
Simultaneous utilization of different nuclear medical examinations in a patient with Klippel-Trenaunay syndrome - vs. proteus syndrome; Simultaner Einsatz verschiedener nuklearmedizinischer Verfahren bei Klippel-Trenaunay-Syndrom - vs. Proteus-Syndrom
Rink, T.; Baum, R.P.; Hoer, G. [Klinik fuer Nuklearmedizin des Zentrums der Radiologie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Menzel, I.; Niemczyk, M.; Kaufmann, R. [Zentrum fuer Dermatologie und Venerologie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Fuchs, S. [Inst. fuer Humangenetik, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany); Heller, K. [Zentrum fuer Chirurgie, Johann Wolfgang Goethe-Universitaet, Frankfurt am Main (Germany)
A three-year-old male patient presented already at his birth a disproportional macrosomia of the left foot and a large, nodular nevus flammeus, in the left hip region, which led to the tentative diagnosis of a Klippel-Trenaunay syndrome. In the following years, both changes showed a continuous progression, with distinct soft-tissue swelling as well as papillomatous and verruciform vegetations of the nevus. Additionally, large, plain subcutaneous masses developed under the right shoulder, and a macrodactyly of the first and second left toe could be observed. Although several examinations had been performed in the meantime, the tentative diagnosis could not be confirmed up to that time. On the occasion of a severe local infection in the hip region, which led to the consideration of a surgical therapy, a radionuclide lymphography, a blood pool scintigraphy including dynamic phlebography and ventriculography as well as a bone scintigraphy were performed. These examinations were done simultaneously at one day in order to avoid a longer period of immobilization. The findings led to the diagnosis of a large lymphangioma, which could be confirmed histologically after surgery. In consideration of all results, the basic disorder seems to be the rare proteus syndrome rather than a Klippel-Trenaunay syndrome. (orig.) [Deutsch] Bei einem dreijaehrigen Jungen fiel bereits bei der Geburt ein dysproportionierter Ueberwuchs des linken Fusses sowie ein grosser Naevus flammeus mit nodulaeren Veraenderungen im Bereich der linken Huefte auf, so dass der Verdacht auf ein Klippel-Trenaunay-Syndrom geaeussert wurde. Im Laufe der weiteren Entwicklung kam es zu einer kontinuierlichen Progredienz dieser Befunde, mit deutlicher Weichteilschwellung sowie papillomatoesen und verruziformen Vegetationen des Naevus. Darueber hinaus entwickelte sich auch unterhalb der rechten Schulter eine grossflaechige, flache Raumforderung sowie eine Makrodaktylie der I. und II. Zehe links. Trotz zahlreicher
Priscilla Luppi Ballalai
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
... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...
Marrelli, Massimo; Tatullo, Marco; Dipalma, Gianna; Inchingolo, Francesco
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. 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. 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. 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.
Narama, I; Kobayashi, Y; Yamagami, T; Ozaki, K; Ueda, Y
Canine pigmented epidermal nevus (CPEN) is a skin disorder of some breeds of dog characterized by multiple black plaques of the haired and non-haired skin. Three cases of pigmented cutaneous papillomatosis (previously described also as CPEN) in pug dogs were investigated histopathologically, immunohistochemically and electron microscopically. Additionally, DNA analyses with the polymerase chain reaction (PCR) were performed in two cases. Many nuclei of the stratum granulosa were diffusely immunolabelled for specific structural antigens of bovine papillomavirus (subgroup A), but nuclear inclusion bodies were not detected by retrospective examination of haematoxylin and eosin-stained sections of the affected skin. Aggregates of small numbers of viral particles (ranging from 37 to 43 nm in diameter) with a hexagonal structure were sparsely scattered throughout the nuclei of some of the superficial keratinocytes. PCR amplification targeted for the L1 gene of papillomavirus cloned from a case of CPEN yielded an expected fragment of 194-bp in the two CPEN cases examined but not in a case of canine oral papilloma.
De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...
... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...
... in girls. There's no cure for Hunter syndrome. Treatment of Hunter syndrome involves management of symptoms and complications. Symptoms Hunter syndrome is one type of a group of inherited metabolic disorders called mucopolysaccharidoses (MPSs), and Hunter syndrome is ...
Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus
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 ......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...
Rabah M. Shawky
Full Text Available We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation.
Maria Leonor Enei
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.
Sasaki, M; Igarashi, K; Suzuki, S; Saito, K
We report a patient of atypical type of Sturge-Weber syndrome who demonstrated a reversible change by MRI FLAIR method in ictus and postictal state. A 5-year-old boy was admitted to our hospital because of severe headache, vomiting and loss of consciousness with his eyes conjugated to left for a few minutes. He had no facial nevus and other abnormal findings in physical examination. CT scan showed two small calcifications in the right occipital lobe. Postcontrast T 1-weighted image of MRI demonstrated a right parieto-occipital leptomeningeal enhancement. We diagnosed this case as an atypical type of Sturge-Weber syndrome. Although, on admission, FLAIR method showed the area of high signal intensity, after anticonvulsant therapy, those abnormal area disappeared. It is presumably detected by FLAIR method slight extravasation of plasma element in the surface of the brain due to regional hyperperfusion in ictus.
Paula Andrea Arango Pérez
Full Text Available El nevus sebáceo de Jadassohn (NSJ es una lesión congénita benigna pero por decenios se la consideró con alto potencial de malignización hacia el carcinoma basocelular (CBC, por lo que se sugería su resección precoz. Series recientes han establecido que muchas de las neoplasias diagnosticadas como malignas eran benignas. Nuestra revisión de 261 casos constituye un aporte al conocimiento del NSJ. Hasta ahora no ha habido series similares en Colombia, y en América Latina las publicaciones no superan los 60 pacientes. MATERIALES Y MÉTODOS: se analizaron 261 casos del archivo de histopatología de la Facultad de Medicina de la Universidad de Antioquia con diagnóstico de NSJ entre 1976 y 2008, incluyendo biopsias y resecciones. RESULTADOS: de los 261 pacientes, 143 eran hombres (54,8% y 118 mujeres (45,2%; la edad promedio fue de 17,4 años; el NSJ estaba presente al nacimiento en el 90,4%. La localización más frecuente fue en el cuero cabelludo (62,5%. Presentaron tumores asociados 28 pacientes: siringocistadenoma papilífero (SCAP 8 casos (3,1%, tumor del infundíbulo folicular (TIF 5 casos (1,9%. Cuatro casos fueron de CBC (1,5% con edad promedio de 40,7 años. Cuatro de 7 tumores diagnosticados previamente como CBC, fueron reclasificados como TIF. DISCUSIÓN: el SCAP fue el tumor más frecuentemente asociado, tal como aparece reportado por otros autores. En esta serie se encontró el TIF con una mayor frecuencia que en la literatura revisada. El CBC fue el único tumor maligno y se presentó solo en adultos. Los resultados de esta serie evidencian un comportamiento benigno del NSJ, por lo que se debiera replantear la necesidad de resección precoz. La revisión histológica del diagnóstico inicial demuestra que lesiones benignas pueden ser confundidas fácilmente con CBC, sobreestimando el potencial maligno de este hamartoma.
Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...
BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...
Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...
Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...
... the National Library of Medicine’s MedlinePlus Piriformis Syndrome Metabolic Syndrome Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Piriformis syndrome ...
Revisión por aguja de la bula de filtración, una alternativa terapéutica en pacientes trabeculectomizados Needle review of the filtering bleb as an alternative in the treatment of patients undergoing trabeculectomy
Elizabeth Arzuaga Hernández
Full Text Available La trabeculectomía es generalmente un procedimiento exitoso para reducir la presión intraocular en pacientes con glaucoma. Sin embargo, el fallo de la ampolla de filtración puede ocurrir y provocar un incremento de la presión intraocular. Esto conllevaría a una intervención médica o quirúrgica adicional. Se realiza una revisión bibliográfica sobre la cistitomía transconjuntival, asociada al uso de antimetabolitos (mitomicina C o 5-fluorouracilo o no. Se demuestra que es mínimamente invasiva, con escasas complicaciones y que constituye un método eficaz, fácil y barato para restablecer el drenaje acuoso y disminuir la presión intraocular.Trabeculectomy is usually a successful procedure to reduce intraocular pressure in glaucoma patients. However, the failure of the filtering bleb can occur, leading to increased intraocular pressure and to a further medical or surgical intervention. A literature review on transconjunctival cystotomy, with or without the use of mitomycin C or 5-fluorouracil, was made. It was demonstrated that this method is minimally invasive with few complications, effective, easy-to-apply and inexpensive to restore aqueous drainage and lowering intraocular pressure.
Furuya, Mitsuko; Nakatani, Yukio
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant inherited disorder characterised by fibrofolliculomas, renal tumours, pulmonary cysts and pneumothorax. The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by the syndrome. This disorder is caused by mutations in the gene coding for folliculin (FLCN). FLCN forms a complex with FLCN-interacting protein 1 (FNIP1) and FNIP2 (also known as FNIPL), and the complex cross-talks with signalling molecules such as 5'-AMP-activated protein kinase (AMPK) and the mammalian target of rapamycin (mTOR). Heterozygous Flcn knockout mice and rats with Flcn gene mutations develop renal cysts, adenomas and/or carcinomas. These findings suggest that FLCN functions as a tumour suppressor that inhibits renal carcinogenesis. However, the mechanisms of the formation of pulmonary cysts and pneumothorax associated with heterozygous mutations in FLCN are poorly understood. Resected lung specimens from patients with BHD are often misdiagnosed by pathologists as non-specific blebs or bullae or emphysema, and patients with BHD who have pulmonary cysts and repeated pneumothorax frequently do not receive appropriate medical investigations. This review discusses the clinical and pathological features of lungs of patients with BHD, focusing on the diagnostic pathology and possible mechanisms of cyst formation.
Schulman, Joshua M; Oh, Dennis H; Sanborn, J Zachary; Pincus, Laura; McCalmont, Timothy H; Cho, Raymond J
Multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is a rare genodermatosis in which numerous indolent, well-differentiated basal cell carcinomas develop primarily on the face and genitals, without other features characteristic of basal cell nevus syndrome. The cause is unknown. The purpose of the study was to identify a genetic basis for the syndrome and a mechanism by which the associated tumors develop. Whole-exome sequencing of 5 tumors and a normal buccal mucosal sample from a patient with MHIBCC was performed. A conserved splice-site mutation in 1 copy of the suppressor of fused gene (SUFU) was identified in all tumor and normal tissue samples. Additional distinct deletions of the trans SUFU allele were identified in all tumor samples, none of which were present in the normal sample. A germline SUFU mutation was present in a patient with MHIBCC, and additional acquired SUFU mutations underlie the development of infundibulocystic basal cell carcinomas. The downstream location of the SUFU gene within the sonic hedgehog pathway may explain why its loss is associated with relatively well-differentiated tumors and suggests that MHIBCC will not respond to therapeutic strategies, such as smoothened inhibitors, that target upstream components of this pathway.
... blood cells, and the cells have a specific mutation in their DNA. Myelodysplastic syndrome with excess blasts — ... Chemicals linked to myelodysplastic syndromes include tobacco smoke, pesticides and industrial chemicals, such as benzene. Exposure to ...
... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ...
... scan) to look for two characteristics of Pendred syndrome. One characteristic might be a cochlea with too few turns. ... Inner Ear Credit: NIH Medical Arts A second characteristic of Pendred syndrome is an enlarged vestibular aqueduct (see figure). The ...
Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and ...
... but be profoundly handicapped. As they grow, some children will progress into other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome. What research is being done? The NINDS conducts and supports an extensive research program on seizures ...
Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.
A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt
Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...
Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...
Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...
Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...
Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...
Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...
... syndrome Overview Dressler's syndrome is a type of pericarditis — inflammation of the sac surrounding the heart (pericardium). ... reducing its ability to pump blood efficiently. Constrictive pericarditis. Recurring or chronic inflammation can cause the pericardium ...
... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...
Alcoverro Fortuny, O; Sierra Acín, A C
The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).
Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.
Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…
Lazic, Tamara; Li, Qiaoli; Frank, Michael; Uitto, Jouni; Zhou, Linda H
Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia, characterized mainly by the presence of hyperkeratotic skin lesions, neurosensory hearing loss, and vascularizing keratitis. Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. A G12R (p.Gly12Arg) is a GJB2 mutation reported in only two patients with KID syndrome to date. This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules. We compare this patient's phenotype with the only two other patients described with the same (G12R) mutation. The phenotypic heterogeneity of KID syndrome, inexplicable according to our current understanding of these proteins, speaks to the complexity of the connexin system and its overlapping expression patterns in different tissues. © 2011 Wiley Periodicals, Inc.
Dayane Cristine Issaho
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.
Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.
Kamal F Akl
Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.
... syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of ... physical, occupational, and speech therapy may benefit some children. Infants with abnormal ...
... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...
... See More About Research The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, ... Publications Definition Angelman ...
Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...
Torres-Gómez, Luis Guillermo; Silva-González, María Eugenia; González-Hernández, Rigoberto
Ballantyne syndrome or mirror syndrome is a triad consisting of the presence of fetal hydrops, generalized edema placentomegaly mother. May be related to any cause of fetal hydrops. The fetal prognosis is poor in untreated cases, the mother has reference to be the cause or the termination of pregnancy. Present the case of a 26-year-old who developed mirror syndrome secondary to non-immune fetal hydrops of unknown origin, accompanied by preeclampsia.
Cervera, Ricard; Piette, Jean-Charles; Font, Josep
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....
Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.
Full Text Available There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. We report a syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, aminoaciduria, primary amenorrhoea and underdeveloped secondary sexual characters in a 38-year-old woman of non consanguinous parentage.
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.
Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole
Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...
If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...
... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...
Igawa, Takuro; Sato, Yasuharu
TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.
Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child
Rehman, A.; Hasan, Z.; Saeed, A.; Abdullah, K.
Gastric Outlet Obstruction (GOO) due to impaction of a gallstone in the duodenum after migration through a bilioduodenal fistula is known as Bouveret's syndrome. Its clinical symptoms are entirely vague and nonspecific. Because of its rarity, insidiousness and unpredictable symptomatology. Bouveret's syndrome is never thought of in the differential diagnosis as aetiology of gastric outlet obstruction. Recent advances in fiberoptics technology, advent of modern imaging modalities and minimally-invasive techniques like endoscopy and laparoscopy has brought a great revolution in the management of Bouveret's syndrome and have tremendously decreased morbidity and mortality associated with this rare clinical entity. (author)
Walker Ruth H
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
Ravi Prakash S
Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.
... Search FAQs Premenstrual Syndrome (PMS) Page Navigation ▼ ACOG Pregnancy Book Premenstrual Syndrome (PMS) Patient Education FAQs Premenstrual Syndrome (PMS) Patient Education Pamphlets - Spanish ...
Sidney Bandeira Cartaxo
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
... vomiting Diarrhea Reye's syndrome Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...
... girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? ... to active partners in their health care. This fact sheet is also available in Spanish at www. ...
... have equally severe disease. Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. Males and females ... and girls have hearing loss during childhood. With ADAS, it occurs later in life. Hearing loss usually ...
... and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial ...
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 ...
... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...
... doctor before taking new medications. Also, having certain types of Gilbert's syndrome may increase your risk of ... of Nondiscrimination Advertising Mayo Clinic is a not-for-profit organization ...
... term (chronic) compartment syndrome can be caused by repetitive activities, such as running. The pressure in a compartment ... or loosened to relieve the pressure Stopping the repetitive activity or exercise, or changing the way it's done ...
... See More About Research The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand ... Publications Definition Aicardi ...
... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...
... drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. × Definition Gerstmann's syndrome is a cognitive impairment that results ...
... with age. Decline in hearing and vision varies. Children with type 3 Usher syndrome often develop hearing loss by adolescence, requiring hearing aids by mid-to-late adulthood. Night blindness also usually begins during adolescence. Blind spots appear ...
... may order additional tests. Computerized tomography (CT) and magnetic resonance imaging (MRI) scans cannot diagnose piriformis syndrome, ... you are sitting, driving or standing. Don’t lift by bending over. Lift an object by bending ...
... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...
... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...
... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...
... mellitus High blood pressure (hypertension) Increased cholesterol and triglycerides (hyperlipidemia) Women with Cushing syndrome may have: Excess ... Wisse, MD, Associate Professor of Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, ...
... Research Home / Metabolic Syndrome Metabolic Syndrome What Is Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...
... Home / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...
... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...
... may also be caused by toxins produced by group A streptococcus (strep) bacteria. Toxic shock syndrome has been associated ... syndrome. The syndrome can also be caused by group A streptococcus (strep) bacteria. Risk factors Toxic shock syndrome can ...
Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium ...
... it? Share Facebook Twitter Pinterest Email Print What causes Down syndrome? Down syndrome is caused by a random error ... The Down Syndrome Registry . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...
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.
Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.
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.
Barisic, Ingeborg; Odak, Ljubica; Loane, Maria
Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...
Full Text Available Dressler Syndrome (DS is a febrile illness secondary to an inflammatory reaction involving the pleura and pericardium. It is more common in patients who have undergone surgery that involves opening the pericardium. However, DS has also been described following myocardial infarction and as an unusual complication after percutaneous procedures such as coronary stent implantation, after implantation of epicardial pacemaker leads and transvenous pacemaker leads, and following blunt trauma, stab wounds, and heart puncture. Pericardial effusions often accompany the syndrome and may develop into early or late postoperative cardiac tamponade and even recurrent cardiac tamponade. The syndrome is also characterized by pericardial or pleuritic pain, pleural effusions, pneumonitis, and abnormal ECG and radiography findings.
Full Text Available In 1992, Brugada syndrom was introduced as a new clinical entity linking typical but variable ST segment changes in the right precordial leads to an increased vulnerability for lethal ventricular arrhythmias. The diagnosis of Brugada syndrome is based on clinical and electrocardiographic features. Recent studies illustrate the dynamic character of these ECG patterns. Whenever a large number of baseline ECGs was available during a follow-up, the diagnostic pattern could be documented only in approximately 25% of the tracings. Because the presence of the spontaneous coved type I ECG pattern is thought to be a useful predictor of future arrhythmic events in asymptomatic patients, these findings are of great clinical importance. ICD implantation is an option for the patients with Brugada syndrome and ventricular tachycardia or fibrillation. Extensive research is ongoing to find alternative pharmacological options for these patients, especially for patients in whom ICD implantation is contraindicated for various reasons.
Pinheiro, Thaís Gonçalves
Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.
Raina, Deepika; Gothi, Rajesh; Rajan, Sriram
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
O'Dwyer, D N
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.
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.
Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed
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)
Rimondi, E.; Albasini, V.
The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction
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.
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.
Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.
Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs
Gong, J.; Garcia, J.
Postanginal sepsis, or Lemierre's syndrome, is rare but with life-threatening potential involving mainly infants and adolescents. The morbidity or mortality is caused mainly by lack of knowledge of the syndrome. The 18-year-old boy described here developed a jugular thrombosis 7 days after an angina. Fusobacterium necrophorum was isolated from the culture of the excised jugular vein. Secondary embolism involved the lungs, associated with an iliac osteomyelitis and sacroiliitis. Computed tomography was used for diagnosis and follow-up. (orig.)
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
Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.
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.
Knoers, N.V.A.M.; Levtchenko, E.N.
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
... but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, also may be beneficial. View Full Treatment Information Definition Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...
Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J
Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.
Saric, Ana; Andreau, Karine; Armand, Anne-Sophie
, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...
Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel
Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be
operational on the derivatives of the first and second bran- chial arches and clefts before the end of the organogenetic period (7'h or 8'h week of embryonic life)? ..... Marshman WE, Schalit G, Jones RB, Lee JP, Mathews TD and McCabe S: Congenital anomalies in patients with Duane retraction syndrome and their relatives.
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.…
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.
... gov/pubmed/26718656 . Ruderman NB, Shulman GI. Metabolic syndrome. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric . 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 43. Review ... NIH MedlinePlus Magazine Read more Health ...
... tongue to drop back toward the throat. Blindness. Blindness can occur if retinal detachments aren't repaired promptly. Ear infections. Children with facial structure abnormalities associated with Stickler syndrome are more likely to develop ear infections than are children with normal facial ...
develop medulloblastomas and are treated with radiation, it is mandatory that they be monitored for the development of BCCs in the radiation field. Management of a patient or family with this syndrome should include genetic counselling and neurological evaluations to detect medulloblastoma until the age of 7, after which ...
presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...
Kounis syndrome is charac terised by a group of symp toms that manifest as unsta ble vasospastic or nonvaso spastic 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 ...
... Staying Safe Videos for Educators Search English Español Marfan Syndrome KidsHealth / For Teens / Marfan Syndrome What's in this ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the ...
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…
Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.
Full Text Available Hepatorenal syndrome (HRS is functional renal failure that occurs with advanced liver failure. HRS is considered the most severe complication of cirrhosis. Type 1 HRS develops due to severe reduction of effective circulating volume results in hemodynamic dysfunction. Type 1 HRS is characterized by acute renal failure and rapid deterioration in the function of other organs. It can ocur spontaneously or in the setting of a precipitating event. Type 2 hepatorenal syndrome (HRS, which is characterized by slowly progressive renal failure and refractory ascites. Liver transplantation is the only definitive treatment for both type. The most suitable and ldquo;bridge treatments and rdquo; or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. [J Contemp Med 2014; 4(2.000: 106-113
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.
Farruggia, Piero; Di Marco, Floriana; Dufour, Carlo
Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.
Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.
The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. Currently, there is consensus in treating APS patients with thrombosis with long-term oral anticoagulation and to prevent obstetric manifestations with the use of aspirin and heparin. This review summarizes the main knowledge on the clinical and therapeutic aspects of this syndrome. © 2017 Elsevier Ltd. All rights reserved.
Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.
Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S
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.
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.
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...
... Outreach Initiative Breadcrumb Home Health Topics English Español Marfan Syndrome Basics In-Depth Download Download EPUB Download PDF What is it? Points To Remember About Marfan Syndrome Marfan syndrome affects connective tissue, which is the “ ...
... celiac disease. 5 Is Turner syndrome considered a disability? Turner syndrome is not considered a disability, although ... girls with Turner syndrome have difficulty with arithmetic, visual memory, and visio-spatial skills (such as determining ...
... it? Share Facebook Twitter Pinterest Email Print What causes Rett syndrome? Most cases of Rett syndrome are ... in the MECP2 gene represent the most prevalent causes of Rett syndrome. The development and severity of ...
Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...
Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...
... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...
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. © 2016 Japanese Dermatological Association.
Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties......, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria...
The most common causes of lower limb edema include cardiac insufficiency, venous insufficiency, insufficiency of lymph flow, and side effects of drugs. It can also be due to dependency syndrome, in which the edema and skin changes can only be explained by a passive calf muscle pump and the resulting venous hypertension. Underlying the drop foot is always immobilization for one reason or other. The patient must be given an explanation about the situation, activated to move if possible, and in any case guided to the use of support stockings and postural therapy.
Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.
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
Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760
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.
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.
Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease. Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.
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 (
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... Usher syndrome. However, the RP associated with Usher syndrome shares most of its characteristics with other forms of RP. Researchers expect that advances in understanding and treating other forms of RP will directly benefit people with Usher syndrome and vice versa. What is Usher Syndrome? Risk ...
The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress
Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula
We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.
Morales Villegas, Enrique
Himsworth in 1939 postulated that Diabetes Mellitus type 2 (DM2) was not only an insulin deficiency state but also a cellular insulin insensitivity disease. Thirty years later, DeFronzo and Reaven demonstrated that insulin resistance (IR) preceded and predisposed for DM2 and atherosclerotic-cardiovascular-disease (ACVD). Reaven was the first to point out the relationship between IR and with hyperglycemia, dyslipidosis, and hypertension as mediators for ACVD, creating the concept of Syndrome X (SX) in 1988. WHO and, thereafter, other medical societies and medical groups, mainly ATP-III, in 2002, based on the difficulty of diagnosing IR in a simple, reliable, and inexpensive way, proposed and published the Metabolic Syndrome (MS) concept, as a group of five variables, i.e., obesity, hyperglycemia, hypertriglyceridemia, low HDL, and hypertension, as an easy clinical approximation to suspect and treat an increased cardiometabolic risk. Nowadays, there are deep and extensive controversies on this issue; however, these controversies do not really exist since all discordant points of view are rather quantitative and not qualitative in nature. This article is aimed at differentiating and harmonizing the complementary concepts of SX and MS, at analyzing why MS is a good "clinical window" to look for IR and its underlying manifestations, and finally to accept that the MS concept complements, but does not substitute or antagonize, traditional scales used to asses cardiovascular risk, such as the Framingham scale.
Lubinsky, Mark; Kantaputra, Piranit Nik
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. © 2016 Wiley Periodicals, Inc.
Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.
van der Burgt Ineke
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.
Baujat, Geneviève; Cormier-Daire, Valérie
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 (therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the
Valdovinos, Sergio Toledo; Landry, Gregory J
Raynaud syndrome (RS) was first described by the French physician Maurice Raynaud in 1862 with the characteristic tricolor change featuring pallor (ischemic phase), cyanosis (deoxygenation phase), and erythema (reperfusion phase) induced by cold or stress. Although the underlying pathophysiological mechanism is unclear, alterations in activity of the peripheral adrenoceptor have been implicated, specifically an enhanced smooth muscle contraction due to overexpression or hyperactivity of postsynaptic alpha 2 receptors. There are 2 ways that RS can appear clinically; isolated, formerly referred as Raynaud disease or now primary RS and in association with other conditions, usually connective tissue disorders (eg, Sjögren syndrome, systemic lupus erythematosus, scleroderma, and rheumatoid arthritis), frequently called Raynaud phenomenon or secondary RS. The estimated prevalence in the general population is 3%-5%, with a higher prevalence in women than in men. The diagnosis is mainly clinical, based on patient descriptions of skin changes. Upper extremity pulse-volume recording is used to rule out proximal arterial obstruction. The differentiation between a vasospastic vs and obstructive mechanism is made using digital pressures and photoplethysmography, where an obstructive mechanism has decreased pressures and blunted waveforms. Cold challenge testing, such as ice water immersion with temperature recovery, is highly sensitive but lack specificity. Serologic screening (antinuclear antibody and rheumatoid factor) is advocated to rule out associated connective tissue disorders. Most patients with RS can be managed conservatively, with avoidance of cold exposure or hand warming. For those in whom conservative management is inadequate, a number of pharmacologic and surgical therapies have been used. Owing to lack of complete understanding of the underlying pathophysiology, targeted therapy has not been possible; rather, therapy has been focused on the use of general
Emanuel, Patrick O; Sternberg, Lauren J; Phelps, Robert G
The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurrent respiratory infections. Her hospital course was complicated by sepsis, liver dysfunction, pan-cytopenia, and disseminated intravascular coagulation. She had developed normally for the first year of life. At 13 months she became progressively lethargic and developed floppy muscle tone; a delay in mental and motor milestones was recognized. Results of a metabolic workup were negative. On examination she was noted to have generalized excessively fair skin when compared with her parents. She had silver-gray hair (Figure 1) and white eyebrows and body hair. Her maternal grandfather and granduncles had silver hair since childhood, but were without health problems. A maternal family member was said to have light skin. The presumed diagnosis before pathologic examination was Chediak-Higashi syndrome. Hematoxylin and eosin stain tests revealed prominent melanocytes in the basal layer of the epidermis. The melanocytes were large and distended with a large volume of melanin (Figure 2). The adjacent keratinocytes were completely devoid of melanin. Application of Masson-Fontana ammoniac silver stain highlighted prominent melanocytic melanin and a relative paucity of melanin in the adjacent keratinocytes (Figure 3). Microscopic examination of her hair revealed clumps of melanin of various sizes and shapes irregularly distributed throughout the hair shaft. Ultrastructural examination of the epidermis showed the melanocytes were distended by an accumulation of large stage IV mature melanosomes. Peripheral blood smear failed to show abnormal granules, even after repeated examination. Based on the clinical features and the pathologic findings, a diagnosis of Griscelli syndrome type 2 was made.
U D Shrestha
Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.
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. ...
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.
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
Wu, Hua-Hong; Li, Hui
To investigate the karyotype, clinical manifestations and natural and therapeutic outcome of Turner syndrome (TS) in China. A total of 124 TS patients with definite diagnosis were included. Karyotype, main clinical signs, sexual development and therapeutic outcome were analyzed. TS karyotype was classified in 4 types: monosomy (32.7%), mosaic (15.9%), variant (23.9%) and mosaic with variant (27.4%). All patients showed short stature, with mean adult height<145cm. Sixteen percent of adolescent patients showed spontaneous breast development and 8% spontaneous menstruation. The rate of spontaneous sexual development was lowest in the monosomy karyotype. Common signs included cubitus valgus and wide breast space in about 50% of patients, epicanthus and skin nevus in 30% and webbed neck and shield chest in 10-20%. More than 10% of patients had associated heart, kidney or thyroid abnormalities. The rate of kidney malformation was highest in the monosomy karyotype. Growth hormone (GH) therapy can accelerate growth, with 7.6cm and 6.7cm increase in height in the first and second years of therapy respectively, slowing to 5.7cm and 4.1cm in the third and fourth years. Treated patients who reached nearly adult height were 10.2cm taller than untreated patients. Therapeutic effect correlated with GH therapy duration. TS patients showed a variety of karyotypes, related to the diversity of clinical manifestations and outcomes. Sexual development and adult height were poorer in monosomy karyotypes than in other types. Copyright © 2018 Elsevier Masson SAS. All rights reserved.
... OTC Relief for Diarrhea Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...
... written specifically for parents. - Understanding Tourette Syndrome: A Handbook for Educators published by The Tourette Syndrome Foundation ... Earl Jones Actor James Earl Jones, a Broadway, television and movie star, is well-known for his ...
Derksen, R. H. W. M.; de Grootb, Ph. G.
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
Nkrumah, F K
A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.
... Groups Hear From the Experts Follow us on Facebook! Alport Syndrome Foundation of USA 2 days ago ... BIRTHDAY! ... See More See Less Photo View on Facebook · Share View on Facebook The Alport syndrome Foundation ...
Gluud, Lise Lotte; Christensen, Kurt; Christensen, Erik
Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal.......Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal....
Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.
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Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...
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CRPS; RSDS; Causalgia - RSD; Shoulder-hand syndrome; Reflex sympathetic dystrophy syndrome; Sudeck atrophy; Pain - CRPS ... In: Cifu DX, ed. Braddom's Physical Medicine and Rehabilitation . 5th ed. Philadelphia, PA: Elsevier; 2016:chap 37.
... sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome ... Klinefelter syndrome may also have problems with attention, speech development, and learning word skills like spelling, reading, ...
... syndrome? 4H syndrome is short for hypomyelination, hypogonadotropic hypogonadism and hypodontia. Hypomyelination means that there is lack ... myelin in the central nervous system. In hypogonadotropic hypogonadism, normal puberty development is absent because the central ...
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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 ...
Suter, Aude-Annick; Itin, Peter; Heinimann, Karl
BACKGROUND: Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma...
... syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span ... syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span ...
f AQ FREQUENTLY ASKED QUESTIONS FAQ121 GYNECOLOGIC PROBLEMS Polycystic Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin ...
Polycystic ovaries; Polycystic ovary disease; Stein-Leventhal syndrome; Polyfollicular ovarian disease; PCOS ... RL, Barnes RB, Ehrmann DA. Hyperandrogenism, hirsuitism, and polycystic ovary syndrome. In: Jameson JL, De Groot LJ, de ...
... NDSS Events Shop NDSS Contact NDSS > Resources > Sexuality Sexuality 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 ...
... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...
... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...
Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...
Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...
... switch to the Professional version Home Hormonal and Metabolic Disorders Multiple Endocrine Neoplasia Syndromes Multiple Endocrine Neoplasia Syndromes Types Type 1 disease Type 2A disease Type 2B disease Diagnosis Treatment Resources In This Article Drugs Mentioned In This ...
Anikina, M A; Levin, O S
The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.
Schjoldager, B T; Sørensen, Jette Led; Svaerke, T
Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time.......Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time....
Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....
Priori Silvia G
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.
... Trials Organizations Publications Definition Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the ... syndrome than men. × Definition Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the ...
Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme
Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...
Exophthalmos was noted in 4 of the 12 patients reported by Harvey Cushing in 1932. Although exophthalmos has often been included in clinical descriptions, no previous study has reported actual measurements in patients with active and treated Cushing's syndrome, and in control patients. The aim of this study was to obtain these measurements. Thirty-one patients with active Cushing's syndrome (19 iatrogenic), 15 with treated Cushing's syndrome, 18 with Graves' ophthalmopathy, 59 control patients, and 3 patients with active Cushing's syndrome plus a family or personal history of thyroid disease. A consecutive series of patients with active and treated Cushing's syndrome were assessed. They were compared with patients with Graves' ophthalmopathy, and with control patients. Exophthalmos was assessed by the author using a Hertel meter. Urinary free cortisol was measured on patients with Cushing's syndrome, and serum thyroxine was estimated for them, and for the patients with Graves' ophthalmopathy. Exophthalmos exceeding 16 mm (> 2 SD above normal mean) was found in 45% of active Cushing's syndrome, 21% of iatrogenic Cushing's syndrome, 20% of treated Cushing's syndrome, 2% of normal controls, and 77% of patients with Graves' ophthalmopathy. No patient with Cushing's syndrome had significant symptoms due to exophthalmos. Patients with active Cushing's syndrome have statistically significant exophthalmos. This rarely causes symptoms, and diminishes when cortisol concentrations become normal. Cushing's syndrome and autoimmune thyroid disease may coexist in patients with exophthalmos.
Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness
Souhami Filho, L.
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.) [pt
Nielsen, S L; Nielsen, F E
The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery...
Clarke Sarah LN
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
A case is described and 7 others are discussed of the Othello Syndrome, characterized by cognitive, affective and conative manifestations plus non-specific psychosomatic accesory symptoms. The nuclear symptom is the delusional or delusion-like idea of jealousy. The syndrome is seen in both sexes, as part of a number of clinical entities (paranoia, psychoses, organic brain syndromes, neuroses and personality disorders). Premorbid personality and family history are always abnormal. Cases of cocaine abuse, involutional melancholia and borderline syndrome are remarkers. The management of this syndrome and of its social sequelae is emphasized.
Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.
Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.
Meirelles, Ricardo M R
The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.
B V Shobha
Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.
Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.
Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)
Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan
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 t...
Sharma, Dev Raj; Resident, Sr.; Mohan, C.; Minnas, R. S.; Mohindroo, N. K.; Sharma, M. L.
Melkersson - Rosenthal syndrome was described by Melkersson and Rosenthal separately in the year 1928 and 1931 respectively. It is supposed to be a rare syndrome of bilateral alternating recurrent facial paralysis alongwith fissured tongue and oedema of the lips, face and eyelids. A case of Melkersson - Rosenthal syndrome is reported with all the classic findings which is a rarity. In this case there was alternating facial paralysis to begin with followed by bilateral paralysis third time, al...
... This Page Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype and comparison with ... M. DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A. ...
... Safe Videos for Educators Search English Español Toxic Shock Syndrome KidsHealth / For Teens / Toxic Shock Syndrome What's ... it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's had ...
Maytin, Edward V; Kaw, Urvashi; Ilyas, Muneeb; Mack, Judith A; Hu, Bo
Photodynamic therapy (PDT) is a non-scarring alternative for treating basal cell carcinoma (BCC) in patients with Basal Cell Nevus Syndrome (BCNS), also known as Gorlin syndrome. In Europe, red light (635 nm) is the predominant source for PDT, whereas in the United States blue light (400 nm) is more widely available. The objective of this study was to conduct a head-to-head comparison of blue light and red light PDT in the same BCNS patients. In a pilot study of three patients with 141 BCC lesions, 5-aminolevulinate (20% solution) was applied to all tumors. After 4 hours, half of the tumors were illuminated with blue light and the remainder with red light. To ensure safety while treating this many tumors simultaneously, light doses were escalated gradually. Six treatments were administered in three biweekly sessions over 4 months, with a final evaluation at 6 months. Tumor status was documented with high-resolution photographs. Persistent lesions were biopsied at 6 months. Clearance rates after blue light (98%) were slightly better than after red light (93%), with blue light shown to be statistically non-inferior to red light. Eight suspicious lesions were biopsied, 5 after red light (5/5 were BCC) and 3 after blue light (1 was BCC). Blue light PDT was reportedly less painful. Blue light and red light PDT appear to be equally safe and perhaps equally effective for treating BCC tumors in BCNS patients. Further studies to evaluate long-term clearance after blue light PDT are needed. Copyright © 2018 Elsevier B.V. All rights reserved.
... Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Diverticular Disease Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Dumping Syndrome ...
Ünal, Dilek; Akdemir, Devrim
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.
Suzuki, Masato; Dembo, Tomohisa; Hara, Wataru; Tajima, Takashi; Yamashita, Minako; Oji, Satoru; Nomura, Kyoichi
Carotid stump syndrome is a well-documented embolic source for ischemic stroke. However, few cases have been reported of a similar condition - termed vertebral artery stump syndrome - which affects the posterior circulation after vertebral artery origin occlusion. We herein report a case of infarction of the right superior cerebellar artery and left posterior inferior cerebellar artery territories due to vertebral artery stump syndrome. In this interesting case, a turbulent flow at the distal side of the vertebral artery occlusion was captured on ultrasonography, and was identified as the probable mechanism of vertebral artery stump syndrome.
The diagnosis of a polyposis syndrome, such as juvenile polyposis, Peutz-Jeghers syndrome, and familial adenomatous polyposis, requires knowledge of the site, number, and histologic type of the polyps and an appreciation of relevant family history. Children and adolescents with polyposis syndromes are faced with not only the immediate complications of the polyps, such as intussusception or bleeding, but also the extraintestinal manifestations and the long-term risk for malignancy. This article reviews the diagnosis, clinical management, surveillance, and surgical options for children with polyposis syndromes and discusses genetics and appropriate screening programs.
Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.
Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656
Bhalli, M.A.; Aamir, M.; Mustafa, G.
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)
Full Text Available One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS, who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.
Velter, C; Caussade, P; Fricker, J-P; Cribier, B
Lynch syndrome (LS) is a syndrome that carries a genetic predisposition to certain cancers associating, either in a single individual or in a family, a visceral tumour, mainly colorectal, with a high risk of other synchronous or metachronous cancers. LS is linked with mutations in the genes coding for proteins in the DNA repair system. Phenotypic variants of SL exist, including Muir-Torre syndrome (MTS) and Turcot syndrome (TS), both of which predispose to colorectal cancer. They may be distinguished by the presence of benign or malignant sebaceous tumours in MTS, and tumours of the central nervous system in TS. A 59-year-old man, with a history of right colon cancer at the age of 36 years, consulted for a nose lesion shown by histopathological examination to be a sebaceous tumour. Immunohistochemistry revealed loss of expression of proteins MSH2 and MSH6, strongly suggesting a diagnosis of MTS. Eight years earlier, the man's son had developed a fatal glioblastoma; given the paternal phenotype of MTS, the hypothesis of TS in the son is probable. This case suggests that several variants of Lynch syndrome may be seen within the same family. It raises the issue of screening for cerebral tumours in patients with MTS and in their family members, even though such a recommendation does not exist; current recommendations in fact consist primarily of gastrointestinal and gynaecological monitoring. Copyright © 2017 Elsevier Masson SAS. All rights reserved.
Rigoli, Luciana; Di Bella, Chiara
Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.
This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome CoronavirusâMERS-CoV. Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD). Date Released: 7/7/2014.
Solaf M. Elsayed
Jan 12, 2018 ... The syndrome was first described in 1988, in two brothers with ACC, bilateral cataracts, ... syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability. Case Reports in Genetics 2011, Volume 2011.  Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, et al.
[2,3] Tropical diabetic hand syndrome is a terminology used to describe a specific acute symptom complex found in diabetic patients in the tropics.[1-4] The syndrome comprises can rapidly progress to synergistic gangrene (Meleney's gangrene), affecting the entire limb and extending to the superficial fascia that can result in ...
Objective. To acknowledge the dinical syndrome chronic fatigue syndrome (CFS) and outline the diagnostic criteria and reasonable management. Outcomes. Attempt at containment of treatmentcost and improvement of the quality of care of patients with. CFS. Evidence. Delphi-type commentary from 20 expert clinicians and ...
Famuyiwa, O O; Ekpo, M
A case of the Othello syndrome is presented. In its classical form the syndrome is rare, but as with other allied paranoid states, its medicosocial implications are great. Rational management should include pharmacotherapy, conjoint family therapy after symptom remission, and long-term individual psychotherapy.
Chronic fatigue syndrome. Committee for Science and Education, Medical. Association of South Africa. Objective. ... Synonyms. Major controversy surrounds the name of the syndrome. In medical circles the preferred term is chronic fatigue .... urine tests using dipsticks. The above investigations should only be pursued when.
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.
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.
Lopez Rengifo, Diana Milena; Contreras Zuniga, Eduardo; Osio, Luis Fernando
The Churg-Strauss syndrome, also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome, however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems
H.A. van Essen
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
Jun 15, 1991 ... The scapulocostal syndrome, a hitherto insufficiently under- stood condition, was clinically studied in 201 cases. The main findings were: (i) pain was the presenting symptom in all cases and was mainly cervicobrachial (90%); (ill the syndrome is a definable entity within the wide spectrum of fibromyalgia ...
muscle destruction, muscle fibrosis, contractures and permanent disability and at worst case scenario of amputation (3,4). As reported by Frink et al (3) on their study on acute compartment syndrome it can occur even when there is no fracture. Also general surgeons have reported acute compartment syndrome.
... in developing countries. Treatment of Sheehan's syndrome involves lifelong hormone replacement therapy. Symptoms Signs and symptoms of Sheehan's syndrome typically appear slowly, after a period of months or even years. But sometimes problems appear right away, such as the inability to ...
Heart failure can be defined as a clinical syndrome in which a structural or functional cardiac abnormality impairs the capacity of the ventricle to fill or eject enough blood for the requirements of the body. Acute heart failure syndrome represents a complex, heterogeneous set of clinical conditions, all with the common.
Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense
Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise...
Oudman, Erik; Wijnia, Jan W.
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
Muller, E; Lichtendahl, DHE; Hofer, SOP
Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having
Grossman, Sheila; Tagliavini, Lynda B
There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin.
... Organizations Publications Definition Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back ... and toes. × Definition Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back ...
Full Text Available Pathophysiological aspects of formation and development of meconium aspiration syndrome, as well as peculiaritues of its development based on data from native and foreign literature are studied. Special emphasis is pointed out to possible diagnostic techniques and prevention of syndrome
Kondziella, Daniel; Frahm-Falkenberg, Siska
Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions...
Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.
... SP. Management of Bell's palsy and Ramsay Hunt syndrome. In: Brackmann DE, Shelton C, Arriaga MA, eds. Otologic Surgery . 4th ed. Philadelphia, PA: Elsevier; 2016:chap 27. Habif TP. Warts, ... Ramsay Hunt syndrome. In: Waldman SD, ed. Atlas of Uncommon Pain ...
O'Connell, D.J.; Courtney, J.V.; Riddell, R.H.
Three patients with Behcet's syndrome and colitis are described. The radiologic and histologic appearances of the colitis are discussed. The similarities of Behcet's colitis to Crohn's disease are outlined. The cases demonstrate the necessity to consider Behcet's syndrome in the differential diagnosis of inflammatory bowel disease. (orig.) [de
Sharma N. L
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.
Carneiro, Sueli; Brotas, Arles; Lamy, Fabrício; Lisboa, Flávia; Lago, Eduardo; Azulay, David; Cuzzi, Tulia; Ramos-e-Silva, Marcia
We present a case of eosinophilic fasciitis, or Shulman syndrome, in a 35-year-old man and discuss its clinical and histopathologic aspects, as well as its relationship to scleroderma. Although controversial, the tendency is to set Shulman syndrome apart from all other sclerodermiform states.
... finding better ways to prevent, treat, and ultimately cure neurological disorders such as central cord syndrome. Information from the National Library of Medicine’s MedlinePlus Spinal ... cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. ...
Shzeena, Dad; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth
BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic...
Chronic glomerulonephritis syndrome is one of clinical classification in primary glomerulonephritis. Clinical classification of primary glomerulonephritis consists of five groups. (WHO 1995) They are acute nephritic syndrome, rapidly progressive nephritic syndrome, recurrent or persistent hematuria (proteinuria), chronic nephritic syndrome, and nephrotic syndrome. After therapy or renal biopsy, they have interaction with one another and many cases are followed up as chronic glomerulonephritis. In the long term clinical course, it is most important thing that not to deteriorate renal function by therapies. (blood pressure control, low protein diet, salt restriction) If there are not only glomerular change but also interstitial and vessel changes in renal biopsy the prediction of prognosis will be poor so it will be necessary to administer medication under strict observation.
Full Text Available Abstract Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions.
Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal dominant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.
Dean, P A
Colorectal cancer is one of the most common cancers in the world, with overall mortality exceeding 40% even with treatment. Effective efforts for screening and prevention are most likely to succeed in patient groups identified as high risk for colorectal cancer, most notably the hereditary intestinal polyposis syndromes. In these syndromes, benign polyps develop throughout the intestinal tract prior to the development of colorectal cancer, marking the patient and associated family for precancer diagnosis followed by either close surveillance or preventive treatment. This review article was undertaken to discuss the most recent developments in the knowledge of hereditary intestinal polyposis syndromes, emphasizing the clinical approach to diagnosis and treatment relative to preventing the development of cancer. The most common of the hereditary polyposis syndromes is familial adenomatous polyposis (FAP), which is characterized by the development of hundreds to thousands of adenomatous polyps in the colon followed at an early age by colorectal cancer. Colorectal cancer can be prevented in this autosomal dominant condition by prophylactic colectomy, though a risk for other tumors, including periampullary cancers, remains throughout life. Variant of FAP associated with fewer and smaller polyps (hereditary flat adenoma syndrome), or even CNS tumors (Turcot's syndrome) also carry this high risk of colorectal cancer. Hereditary hamartomatous polyposis syndromes such as juvenile polyposis and Peutz-Jeghers syndrome (also autosomal dominant) are characterized by less frequent polyps. Though these are generally benign polyps, they are also associated with a significant risk of colorectal and other cancers. Other polyposis syndromes, including neurofibromatosis and Cowden's disease, do not carry this increased risk of colorectal cancer, and therefore affect different treatment strategies. Analysis of genetic factors responsible for these and other hereditary syndromes with
Kratz, Christian P; Izraeli, Shai
In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development. Copyright © 2017 Elsevier Inc. All rights reserved.
Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.