1882年 Von Rocklinghausen(雷克林毫森)氏叙述了神经纤维瘤病,是皮肤、骨,肌肉及神经系统先天性发育不良,由畸变显性基因引起的神经外胚叶异常。临床表现:咖啡斑,大小不定,在黄褐色斑疹中常有数个暗褐色斑点。多发性神经纤维瘤,瘤大小不定,小的只有小米或豆子大,而大的有鹅蛋大或更大,肿瘤数目不 Von Rocklinghausen, 1882, described neurofibromatosis as a neurodegenerative abnormality caused by aberrant dominant genes in congenital dysplasia of the skin, bone, muscle and nervous system. Clinical manifestations: coffee spots, sizes, often in the brown spotted dark brown spots. Multiple neurofibromas, tumor size uncertain, small only millet or beans, large goose egg large or larger, the number of tumors is not