[摘要] I神经纤维瘤是因NF I基因(该基因位于17q11.2)突变导致的一种常染色体显性遗传病。其临床表现复杂多样，主要为皮肤牛奶咖啡斑、多发性神经纤维瘤。本文通过对I型神经纤维瘤的病因、病理变化、症状和体征、诊断的分析，探讨了该病的治疗方法和手段。

    [关键词] I型神经纤维瘤； NF I基因；病因和病理； 症状和体征； 诊断和治疗

    [中图分类号] R596.1[文献标识码] B[文章编号] 1005-0515(2011)-07-055-02

    [Abstract] Neurofibromatosis type I(NF I)is a common autosomal dominant disorder with a complex variety of clinical symptoms, genetic alteration of the NF I gene on 17q11.2 is the cause of this disorder. The main characteristics are cafe-au-lait spots and neurofibromas. This article analyzes the cause, pathological features, signs, symptoms and diagnosis of NF I, and discusses its treatment.

    [Keywords] Neurofibromatosis type I(NFI); NF I gene; Cause and mechanism; Signs and symptoms; Diagnosis and treatment

    Ⅰ型神经纤维瘤(Neurofibromatosis type I,NF I)是一种源于神经嵴细胞分化异常而导致的多系统损害的常染色体显性遗传病 ......