Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age

Marina Guinda Ribeiro,1 Gabriella Lucato Zunta,1 Jéssica Silva Santos,1 Aparecida Machado Moraes,2 Carmen Silvia Passos Lima,2 Manoela Marques Ortega1 1Department of Post Graduate Program in Health Science, São Francisco University, Bragança Paulista, São Paulo, Brazil; 2Department of Internal Medicine, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil Abstract: 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. Keywords: xeroderma pigmentosum, DNA repair-deficiency disorders, ultraviolet rays&nbsp