Sakai A, Suzuki K
Nihon Rinsho. 1995 Nov;53(11):2688-90.
von Recklinghausen's disease was first described in 1882. Formerly, it was considered a single disease, but is now known to be two distinct disease, neurofibromatosis 1 (NF 1, peripheral form of neurofibromatosis) and neurofibromatosis 2 (NF 2, bilateral acoustic neurofibromatosis). Neurofibromatosis is inherited as an autosomal dominant with a high rate of penetrance. NF 1 gene is located in the pericentromeric region of chromosome 17. NF 2 gene is localized to chromosome 22. Clinically, there are some characteristic signs and symptoms. The typical NF 1 patient has café-au-lait spots, melanin pigmentation and palpable neurofibromas, while NF 2 has its onset with the development of tinnitus or hearing loss, due to the presence of bilateral acoustic neuroma.
冯·雷克林豪森病于1882年首次被描述。以前，它被认为是一种单一疾病，但现在已知是两种不同的疾病，即神经纤维瘤病1型（NF 1，神经纤维瘤病外周型）和神经纤维瘤病2型（NF 2，双侧听神经纤维瘤病）。神经纤维瘤病以常染色体显性方式遗传，外显率很高。NF 1基因位于17号染色体的着丝粒周围区域。NF 2基因定位于22号染色体。临床上，有一些特征性的体征和症状。典型的NF 1患者有牛奶咖啡斑、黑色素沉着和可触及的神经纤维瘤，而NF 2则因双侧听神经瘤的存在，以耳鸣或听力丧失的症状发病。
