Friedman J M
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
J Child Neurol. 2002 Aug;17(8):548-54; discussion 571-2, 646-51. doi: 10.1177/088307380201700802.
Neurofibromatosis 1 occurs in 2 to 3 people per 10,000. The most frequent clinical features are café-au-lait macules, neurofibromas, intertriginous freckling, Lisch nodules, and learning disabilities, but optic and other gliomas, malignant peripheral nerve sheath tumors, and characteristic osseous lesions also can be present. Two striking aspects of neurofibromatosis 1 are its progressive nature and its extreme variability. This article reviews the natural history and some important clinical manifestations of neurofibromatosis 1, with emphasis on features that constitute the standard diagnostic criteria. The pathogenic implications of these clinical manifestations are also considered.
神经纤维瘤病1型的发病率为每10000人中2至3人。最常见的临床特征是咖啡斑、神经纤维瘤、间擦部位雀斑、虹膜错构瘤和学习障碍，但也可能出现视神经及其他胶质瘤、恶性外周神经鞘瘤和特征性骨病变。神经纤维瘤病1型的两个显著特点是其进行性本质和极大的变异性。本文回顾了神经纤维瘤病1型的自然病史和一些重要的临床表现，重点关注构成标准诊断标准的特征。还考虑了这些临床表现的致病意义。
