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

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 ocul...

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Detalles Bibliográficos
Autores principales: Ribeiro, Marina Guinda, Zunta, Gabriella Lucato, Santos, Jéssica Silva, Moraes, Aparecida Machado, Lima, Carmen Silvia Passos, Ortega, Manoela Marques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089094/
https://www.ncbi.nlm.nih.gov/pubmed/30127633
http://dx.doi.org/10.2147/TACG.S155083
Descripción
Sumario: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.