Ozarslan Bengisu, Russo Teresa, Argenziano Giuseppe, Santoro Claudia, Piccolo Vincenzo
Dermatology Unit, Doku Medical Center, 34381 Istanbul, Turkey.
Dermatology Unit, University of Campania Luigi Vanvitelli, 80100 Naples, Italy.
Cancers (Basel). 2021 Jan 26;13(3):463. doi: 10.3390/cancers13030463.
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of congenital anomaly syndromes called RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated protein kinase pathway. Generally, NF1 patients present with dermatologic manifestations. In this review the main features of café-au-lait macules, freckling, neurofibromas, juvenile xanthogranuloma, nevus anemicus and other cutaneous findings will be discussed.
1型神经纤维瘤病（NF1）是一种复杂的常染色体显性疾病，与NF1肿瘤抑制基因的种系突变有关。NF1属于一类称为RAS病的先天性异常综合征，这是一组由Ras/丝裂原活化蛋白激酶途径突变引起的罕见遗传病。一般来说，NF1患者会出现皮肤表现。在这篇综述中，将讨论咖啡牛奶斑、雀斑、神经纤维瘤、幼年黄色肉芽肿、贫血痣和其他皮肤表现的主要特征。
