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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a patient that fulfills the clinical features of the linear nevus sebaceous syndrome. This syndrome was defined by the triad: Linear nevus sebaceous, seizures and mental retardation. Further descriptions suggested an association with hamartomas of mesenchymal structures and increased risk of neoplasm transformation. Previously reported cases are reviewed. The complexity of classification of this neurocutaneous syndrome is discussed.
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PMID:[Linear sebaceous nevus syndrome]. 332 Jun 21

Linear nevus sebaceous syndrome is reported to occur in as many as 1 in 1000 live births, and is hypothesized to result from genetic mosaicism involving a lethal autosomal-dominant gene. The terms "epidermal nevus syndrome" and "linear nevus sebaceous syndrome" are often used interchangeably, although linear nevus sebaceous syndrome more strictly applies to patients with a typical midline nevus, and epidermal nevus syndrome is a more inclusive term that includes all varieties of epidermal nevi. Linear nevus sebaceous syndrome encompasses a broad spectrum of abnormalities that may affect every organ system, including the central nervous system. In these cases, seizures and mental retardation are the main manifestations. Many other organ systems were also reported to be involved in this syndrome, including the cardiovascular, skeletal, ophthalmologic, and urogenital systems, among others. Although linear nevus sebaceous syndrome occurs at a relatively high frequency and may affect different organ systems, many physicians are unaware of the syndrome, which may delay diagnosis and treatment. We present two cases of linear nevus sebaceous syndrome, and we describe their initial presentation and subsequent evolution, incorporating a review of the current literature in this field.
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PMID:Linear nevus sebaceous syndrome: case reports and review of the literature. 1827 57

Linear nevus sebaceous syndrome (LNSS) is characterized by nevus sebaceous, mental retardation, seizures, and ocular abnormalities such as complex limbal choistoma. A young male with history of mass in right eye and blackish discoloration of skin over right and left side of forehead since birth presented with foreign body sensation and diminished vision in right eye. Ocular examination showed mass over epibulbar region with chorioretinal coloboma and posterior staphyloma in right eye and megalocornea in left eye. Histopathology report revealed complex limbal choristoma with compound melanocytic nevus. The case was managed by surgical excision of the limbal mass and filling the gap with scleral graft.
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PMID:Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting. 2785 26