神经纤维瘤病是一种有多发表现的遗传性疾病,并有地理分布的差异。关于本病的外显率和突变频率的程度还有争论,但一般认为是突变频率较高的显性遗传病。本文试图弄清本病体细胞和遗传学方面的一些问题。符合下列一项标准的病人做为研究对象:(1)皮肤色素:①成人有6个以上的咖啡牛奶斑(CAL),直径在1.5cm以上;②儿童有5个以上的CAL,直径在1.5cm以上。(2)神经纤维瘤:①全身有10个以上的 Neurofibromatosis is a hereditary disease with multiple manifestations and has geographic differences. The extent of the penetrance and frequency of this disease is still debated, but it is generally considered as a dominant genetic disease with a high frequency of mutations. This article attempts to clarify some of the problems with somatic cells and genetics of this disease. Patients who met one of the following criteria were considered as study subjects: (1) skin pigmentation: ① more than six coffee milk spots (CAL) in adults over 1.5 cm in diameter; ② children with more than five CALs at 1.5 cm or more. (2) Neurofibromatosis: ① body more than 10