Froster-Iskenius U G, Wolff H H
Klinik für Frauenheilkunde und Geburtshilfe, Medizinischen Universität zu Lübeck.
Hautarzt. 1991 May;42(5):279-83.
Neurofibromatosis is not a single entity. Seven types of the disorder are now known, which can be differentiated by clinical and genetic features. The wide variety of clinical manifestations makes close interdisciplinary cooperation necessary, in which the dermatologist frequently has a key role. The most frequent forms are peripheral neurofibromatosis (NF1) and central neurofibromatosis (NF2), for which separate gene localizations have been found on chromosomes 17 and 22, respectively, by molecular genetics techniques. The meanwhile possible prenatal diagnosis raises ethical questions.
神经纤维瘤病并非单一疾病。目前已知该疾病有七种类型,可通过临床和基因特征进行区分。其临床表现多种多样,这使得紧密的跨学科合作成为必要,皮肤科医生在其中常常起着关键作用。最常见的类型是外周神经纤维瘤病(NF1)和中枢神经纤维瘤病(NF2),通过分子遗传学技术分别在17号和22号染色体上发现了它们各自的基因定位。与此同时,可能进行的产前诊断引发了伦理问题。