Brown Kim E, Goldstein Scott M, Douglas Raymond S, Katowitz James A
Department of Ophthalmology, University of Illinois-Chicago, Chicago, IL, USA.
J AAPOS. 2003 Apr;7(2):148-9. doi: 10.1016/mpa.2003.S1091853103000120.
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. In this short report, a case of ECCL is used to illustrate the clinical manifestations of neurocutaneous syndromes.
神经皮肤综合征是一组以皮肤和神经系统先天性异常为特征的疾病，目前尚未明确其病因。（1）这些综合征的眼科表现很常见。这些罕见综合征的眼科和全身表现往往相互重叠。例如，脑颅皮肤脂肪瘤病（ECCL）、眼脑皮肤综合征（OCC）和线状皮脂腺痣综合征（LNS）。明确这些综合征的诊断标准是一个有价值的目标，因为这将有助于阐明这些了解甚少的疾病的表型谱，并可能有助于遗传咨询。在本简短报告中，以一例ECCL病例来说明神经皮肤综合征的临床表现。
