Resumo

ESCOBAR VEGA, Heizel; EXPOSITO JALTURIN, Alexey  e  LOPEZ HERNANDEZ, Eloida. Xeroderma Pigmentosum: A case presentation. Rev haban cienc méd [online]. 2009, vol.8, n.1, pp. 0-0. ISSN 1729-519X.

Xeroderma Pigmentosum is a cutaneous disease with a recessive autosomal inheritance. It traduces into a extreme sensitivity to ultraviolet light (UV), with the onset of dark lesions similar to freckles, hyperpigmentation, keratoses, skin cancer, atrophic scars on the exposed areas to the sunlight, that finally affect the whole skin.We present a case reported in Venezuela of a 22 year old patient, white skin, with history of 8 years of skin colour changes and the onset of nevus in the sunlight exposed areas. Two more member of her family suffer this symptoms ( her brother and grandfather). Because of the unusual of this pathology and it´s genetic behaviour, we decided to report this case.

Palavras-chave : Xeroderma Pigmentosum; recessive autosomal inheritance; DNA; endonuclease ultraviolet light (UV).

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