Norman R A
J Am Optom Assoc. 1983 Jun;54(6):533-5.
It was in 1882 that Von Recklinghausen described the components of neurofibromatosis. This disease represents one of the most common of the phakomatoses occurring in approximately 1 out of every 3,000 live births. The genetic inheritance is that of autosomal dominant with variable expressivity. Cafe-au-lait spots, axillary freckling, and numerous tumors which are derived from the Schwann cells of the peripheral nerves and neurofibromas of the central nervous system characterize this disease. Although it is congenital, signs and symptoms of Von Recklinghausen's may not become apparent until late childhood or early adulthood. Approximately 33% of all cases of Von Recklinghausen's disease are discovered accidentally on routine examination.
1882年,冯·雷克林豪森描述了神经纤维瘤病的组成部分。这种疾病是最常见的错构瘤病之一,大约每3000例活产中就有1例发生。其遗传方式为常染色体显性遗传,表现度可变。牛奶咖啡斑、腋窝雀斑以及源自周围神经施万细胞和中枢神经系统神经纤维瘤的众多肿瘤是这种疾病的特征。虽然它是先天性的,但冯·雷克林豪森病的体征和症状可能直到儿童晚期或成年早期才会显现出来。大约33%的冯·雷克林豪森病病例是在常规检查中偶然发现的。