Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome

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• 作者：Kim E. Brown ; Scott M. Goldstein ; Raymond S. Douglas ; James A. Katowitz
• 关键词：Bronchial epithelial cells ; ERK1/2 ; GM-CSF ; MAP kinase ; Raf1
• 刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus
• 出版年：2003
• 出版时间：April 2003
• 年：2003
• 卷：7
• 期：2
• 页码：148-149
• 全文大小：134 K

文摘

The neurocutaneous pattern syndromes are a group of disorders characterized by congenital abnormalities involving both the skin and the nervous system for which no identifiable cause has been isolated.[1] Ophthalmologic manifestations of these syndromes are common. These rare syndromes often have overlapping ophthalmic and systemic findings. Examples include encephalocraniocutaneous lipomatosis (ECCL), oculocerebrocutaneous syndrome (OCC), and linear nevus sebaceous syndrome (LNS). Clarifying the diagnostic criteria for these syndromes is a worthy goal because it will help elucidate the phenotypic spectrum of these poorly understood diseases as well as possibly facilitate genetic counseling. [1] In this short report, a case of ECCL is used to illustrate the clinical manifestations of neurocutaneous syndromes.