1型神经纤维瘤病

Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2005-01-14 DOI:10.1002/9780470893159.CH37

D. Viskochil

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引用次数: 62

摘要

1型神经纤维瘤病(通常缩写为NF1)与许多特征相关，其中一些是先天性异常，而另一些是与年龄相关的组织增殖异常。它是一种常染色体显性疾病，在临床表现上具有高度的可变性。虽然它是完全渗透在成人，有一个年龄相关的外显率的一些个别临床症状。皮肤表现包括咖啡色黑皮斑，独特的雀斑模式和真皮神经纤维瘤。其他征象包括利氏结节、骨骼发育不良、视神经通路肿瘤和丛状神经纤维瘤。1型神经纤维瘤病在全世界大约每3500人中就有1人患病。关键词:1型神经纤维瘤病;NF1;牛奶咖啡斑;神经纤维瘤;Lisch结节;假关节;视神经通路肿瘤

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NEUROFIBROMATOSIS TYPE 1

Neurofibromatosis type 1 (often abbreviated to NF1) is associated with myriad features, some of which are congenital anomalies while others are age-related abnormalities of tissue proliferation. It is an autosomal dominant condition with a high degree of variability in clinical expression. Although it is fully penetrant in adults, there is an age-related penetrance for a number of the individual clinical signs. Cutaneous manifestations include cafe-au-lait patches, distinctive freckling patterns, and dermal neurofibromas. Other signs include Lisch nodules, skeletal dysplasia, optic pathway tumor, and plexiform neurofibroma. Neurofibromatosis type 1 affects approximately 1 in 3500 individuals worldwide. Keywords: neurofibromatosis type 1; NF1; cafe-au-lait patches; neurofibroma; Lisch nodule; pseudarthrosis; optic pathway tumor

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Cassidy and Allanson's Management of Genetic Syndromes

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