Under the designation neurofibromatosis (NF), there are two distinct genetic disorders. NF type I, disseminated form, peripheral, was first described by von Recklinghausen in 1882. and has a high incidence (approximately 1 : 3000 live births). The mutation occurs on chromosome iyqu.z, and the diagnosis is based on established criteria. NF type II or bilateral acoustic neuroma, central form, has an incidence of 1:40,000, and the mutation occurs on chromosome 22.Segmental NF is a localized presentation, which is characterized by neurofibromas and/or cafe au lait spots, with segmental distribution, and may be unilateral or bilateral. It is a rare condition, with 198 cases reported in the literature of the unilateral form and only 22 of the bilateral.
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机译：在名称神经纤维瘤病（NF）下，有两种不同的遗传疾病。 von Recklinghausen于1882年首次描述了外周传播的NF型I，并且发病率很高（大约1：3000活产）。该突变发生在染色体iyqu.z上，并且诊断基于既定标准。 II型NF或双侧听觉神经瘤（中央型）的发生率为1：40,000，且突变发生在22号染色体上。节段性NF是一种局部性表现，其特征是神经纤维瘤和/或咖啡色斑点，具有分段分布，可以是单边或双边的。这是一种罕见的疾病，单方面文献报道有198例，而双侧只有22例。
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