Xeroderma pigmentoso
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Publisher
Rev. bol. ped.
Abstract
El Xeroderma pigmentoso es una patología poco frecuente con incapacidad de las células para reparar el daño causado en el ADN por las radiaciones ultravioleta evidenciándose quemaduras solares, ampollas, costras, telangiectasias, y queratosis, además de alteraciones neurológicas, retardo en el crecimiento pondo-estatural y en la maduración sexual. La mortalidad es alta por el desarrollo de neoplasias cutáneas múltiples a temprana edad. Se presenta el caso clínico de una paciente con diagnóstico de xeroderma pigmentoso.
The xeroderma pigmentosum is a very rare pathology with incapacity of the cells to repair the damage caused in the DNA by the ultraviolet radiation showing solar burns, blisters, scabs, telangiectasias, and queratosis, in addition to neurological alterations, retardation in the pondo-estatural growth and the sexual maturation. Mortality is high by the cutaneous development of neoplasias mainfold at a young age. We present a clinical case of a patient with xeroderma pigmentoso.
The xeroderma pigmentosum is a very rare pathology with incapacity of the cells to repair the damage caused in the DNA by the ultraviolet radiation showing solar burns, blisters, scabs, telangiectasias, and queratosis, in addition to neurological alterations, retardation in the pondo-estatural growth and the sexual maturation. Mortality is high by the cutaneous development of neoplasias mainfold at a young age. We present a clinical case of a patient with xeroderma pigmentoso.
Description
Vol. 47, No. 1