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 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and irisangiographical findings of 2 patients with essential progressive iris atrophy of the juvenile are reported. Histopathological examination was possible in one case. The differential diagnosis including to iridoschisis, Chandler's syndrome, Cogan-Reese (iris-naevus) syndrome is discussed. The aetiology of this rare disease remains obscure. Most authors believe that the iris stroma changes and pigment epithelial atrophy result from a vascular deficiency. Iris angiographical findings confirm this belief. The prognosis is poor, due to the therapy resistant secondary glaucoma. Surgery of the ciliary body appears to be the only possible procedure.
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PMID:[A contribution on the clinical pictures, fluorescence angiography and histology oe essential progressive iris atrophy (author's transl)]. 88 1

The woolly hair nevus is a very rare disease that only occurs sporadically. So far, approximately 48 patients with woolly hair nevus have been described in the world literature. Both sexes are equally affected. Mostly, the dermatosis manifests itself from birth or within the first 2 years of life. Up to 5 circumscribed areas with clearly lighter curly hairs can be observed. About 50% of the patients present a linear epidermal nevus at the same time. Microscopically, the hair shaft diameter of the woolly hair is significantly reduced. Next to oval structures the cross-sections of the hair often show triangular and irregular forms. Furthermore, pili canaliculi and pili torti as well as circumscribed cuticula defects can be observed. We present a 5-year-old boy, who manifested 4 woolly hair nevi on the capillitium in the 9th month of life. From the 2nd year of life onwards he developed a linear epidermal nevus. The ophthalmological examination showed a persistent pupillary membrane. Based on this case and a bibliographical overview, the light and electron microscopical peculiarities are presented.
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PMID:[Multiple woolly hair nevi with linear epidermal nevus and persistent pupillary membrane]. 150 3

The authors report on a patient of 33 years of age suffering from neurocutaneous melanosis in whom two years after excision of a naevus pigmentosus et pilosus giganteus cellular proliferation of the melanoblasts in the area of the soft meninges was seen. This process led to the death of the patient within a few weeks' time despite intensive therapeutic measures, the manifestation being that of a generalised space-occupying growth in the CNS. Neuroradiological techniques can objectify the clinical pattern of signs of this very rare disease and may possibly enable an early diagnosis.
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PMID:[Neurocutaneous melanosis]. 275 43

The white sponge nevus is a hereditary leukokerotosis localized preferably in the oral mucosa, but may simultaneously manifest itself in other regions, e.g. perianally. We report the case of a 18-year-old patient with a primarily and exclusively extraorally located white sponge nevus of the vulva. The differential diagnosis and clinical as well as therapeutical problems of this extremely rare disease are discussed.
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PMID:White sponge nevus of the vulva. 286 46

Blue rubber bleb nevus syndrome (BRBN) is a rare disease entity of which at least 22 cases of pediatric origin have been described since 1958. Only a few known cases have developed in adulthood. This syndrome is characterized by cutaneous, usually multiple, cavernous hemangiomas associated with similar lesions of the gastrointestinal tract. The cutaneous hemangiomas are a variant of the cavernous type, which are generally soft, rubbery, and compressible. Most cases are sporadic, although autosomal dominant inheritance has been described. Complications of this syndrome may include gastrointestinal bleeding leading to anemia, amputations of extremities, and hematologic disturbances such as chronic consumption coagulopathy. Children suffering from BRBN syndrome should be surveyed extensively for comprehensive care. This syndrome is important to consider in cases of unexplained intestinal bleeding. Therapy is mainly symptomatic and directed to complications.
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PMID:Blue rubber bleb nevus syndrome. 302 62

Melanoma is no longer a rare disease. Knowledge of the natural history of pigmented nevi and of the clinical characteristics of melanoma and its precursor and look-alike lesions can help prevent deaths from this treatable malignancy.
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PMID:Malignant melanoma and its precursors. The growing need for early identification. 394 97

The nevus spongiosus albus mucosae (resp. white sponge nevus in the angloamerican literature) is a hereditary leukokeratosis localised preferably in the oral mucosa, but may simultaneously manifest itself in other regions, e.g. perianally. We report the case of a 18-year old patient with a primarily and exclusively extraorally located nevus spongiosus albus mucosae of the vulva. The differential diagnosis and clinical as well as therapeutical problems of this extremely rare disease are discussed.
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PMID:[Extraoral manifestation of a white sponge nevus of the mucosa]. 404 12

The Blue Rubber Bleb Nevus syndrome is a rare disease characterized by a distinctive type of hemangioma which involves the skin and the gastrointestinal tract. In the latter location, these lesions are often responsible for chronic blood loss and secondary anemia, and in rare situations may act as a leading point for an intussusception. The diagnosis of intussusception in children older than 3 or 4 yr is frequently difficult and delayed. In a child with typical skin lesions of the Blue Rubber Bleb Nevus syndrome, an acute illness with manifestations of intestinal obstruction should indicate the possibility of an associated intussusception.
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PMID:Blue Rubber Bleb Nevi as a cause of intussusception. 683 29

Sturge-Weber syndrome is a rare disease involving a port-wine facial nevus and an associated intracranial venous malformation. There are no reports of this disorder in association with pregnancy in the English literature, and the effects of pregnancy on this syndrome remain unknown. We present a case of Sturge-Weber syndrome diagnosed in the early postpartum period and document the possible deleterious effects of gestation on the neurologic symptoms and ultimate prognosis.
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PMID:Sturge-Weber syndrome in pregnancy. 757 85

Blue rubber bleb nevus syndrome (BRBNS), which consists of cutaneous and visceral hemangiomas, is a rare disease. Complications such as gastrointestinal (GI) bleeding, anemia and coagulopathy have been documented. We report a patient with BRBNS who presented with acute paraparesis in addition to GI bleeding and coagulopathy.
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PMID:Gastrointestinal bleeding and paraparesis in blue rubber bleb nevus syndrome. 772 89


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