Ribeiro Marina Guinda, Zunta Gabriella Lucato, Santos Jéssica Silva, Moraes Aparecida Machado, Lima Carmen Silvia Passos, Ortega Manoela Marques
Department of Post Graduate Program in Health Science, São Francisco University, Bragança Paulista, São Paulo, Brazil,
Department of Internal Medicine, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
Appl Clin Genet. 2018 Aug 10;11:89-92. doi: 10.2147/TACG.S155083. eCollection 2018.
Xeroderma pigmentosum is a rare autosomal recessive genetic disease characterized by extreme sensitivity due to solar radiation and deficiency in excision repair DNA. Those factors promote a set of skin abnormalities such as keratosis, hyperpigmentation, tumors in areas exposed to sunlight, and ocular and, eventually, neurological disorders. In the present review, we summarize the main clinical features related to a case of xeroderma pigmentosum in a man who was not diagnosed until he was 45 years old.
着色性干皮病是一种罕见的常染色体隐性遗传病，其特征是对太阳辐射极度敏感且DNA切除修复功能缺陷。这些因素会引发一系列皮肤异常，如角化病、色素沉着、暴露于阳光下部位的肿瘤，以及眼部问题，最终还会导致神经紊乱。在本综述中，我们总结了一名直到45岁才被诊断出患有着色性干皮病的男性患者的主要临床特征。
