Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
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منابع مشابه
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
PURPOSE To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. METHODS A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. RESULTS The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. CONCLUSION Since the skin and ocular manifestati...
متن کاملEncephalocraniocutaneous Lipomatosis: Haberland Syndrome
BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral...
متن کاملPartial Encephalocraniocutaneous Lipomatosis Syndrome
Encephalocranial lipomatosis is a rare disorder that characteristically involves ectomesodermal tissues such as skin, eye, and the central nervous system. Here, we report a 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and weakness of right lower limb. Imaging revealed hemiatrophy, arachnoid cyst, and polymicrogyria. The constellation of clinical finding and imag...
متن کاملEncephalocraniocutaneous Lipomatosis (Haberland’s Syndrome) - A Case Report of a Neurocutaneous Syndrome and a Review of the Literature
We present the case of a full-term girl born to nonconsanguineous parents. Physical examination revealed a large (14 x 6 centimeters) hairless lesion on the right frontalparietal scalp (Fig.1), multiple nodular lesions of the right upper eyelid and eyebrow, and a reddish bulbar conjunctival lesion on the right eye consistent with choriocystoma (Fig.2). A CT scan of the brain showed cranial asym...
متن کاملEncephalocraniocutaneous Lipomatosis
Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, uni...
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ژورنال
عنوان ژورنال: Journal of Current Ophthalmology
سال: 2016
ISSN: 2452-2325
DOI: 10.1016/j.joco.2016.06.004