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Revista argentina de dermatología
versão On-line ISSN 1851-300X
Resumo
PEREZ-ELIZONDO, AD; DEL PINO-ROJAS, GT e GARCIA-HERNANDEZ, JF. Xeroderma pigmentosum. Brief review: from molecular to clinical. Rev. argent. dermatol. [online]. 2014, vol.95, n.1, pp.23-28. ISSN 1851-300X.
Xeroderma Pigmentosum (XP) is a rare autosomal recessive transmitted genodermatosis. The diagnostic is clinical and usually have a poor prognosis. There are intrinsic molecular defects in cellular DNA, repair damaged by radiant effects of the sun resulting in accumulation of oncogenic photoproducts and inhibition of tumor growth suppressor genes. It can produce serious affectation of the eye, central nervous system and skin. Represents a therapeutic challenge and is mandatory a multidisciplinary medical intervention for its management.
Palavras-chave : Xeroderma; Genodermatosis; Cáncer de piel; Xeroderma pigmentosum.