多发性神经纤维瘤病又称神经纤维瘤病(neu-rofibromatosis,NF),根据其表型和分子生物学检查结果分为神经纤维瘤病I型(NF-I)和II型(NF-II)[1]。NF-I是源于神经嵴细胞发育分化异常所致的常染色体显性遗传病,临床表现多样,系统损害广泛,患病率约为1/3000~1/3500。其主要临床表现有 Multiple neurofibromatosis, also known as neu-rofibromatosis (NF), is classified into neurofibromatosis type I (NF-I) and type II (NF-II) according to its phenotype and molecular biological test results )[1]. NF-I is an autosomal dominant genetic disease caused by aberrant development and differentiation of neural crest cells. The clinical manifestation is diverse and the system is extensively damaged. The prevalence is about 1/3000 ~ 1/3500. Its main clinical manifestations are