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Archivos Bolivianos de Medicina
versión impresa ISSN 0004-0525
Resumen
RAMALLO JADUE, Fabiola y RAMALLO JADUE, Jorge. XERODERMA PIGMENTOSO. Arch.Boliv.Med. [online]. 2013, vol.19, n.87, pp. 53-59. ISSN 0004-0525.
The xeroderma pigmentosum, is a disease resulting from a sensitivity greatly increased to sunlight, with the presence of alterations in skin pigmentation, dry skin, keratosis, telangiestasias. 20% ofpatients present with neurological and related eye photophobia, presenting a high predisposition to develop multiple skin cancers (squamous cell carcinoma, basal cell), at a ratio of 1000 times higher compared to the general population. The etiology ofthe disease is genetic in nature autosomal recessive. It describes two rare genetic disease, syndrome Cockaine and Trichothiodystrophy similar to xenoderma pigmentosum. Therefore, the study of genetic alterations found in these three entities are a very useful model for understanding the significance of the damage and repair of DNA in the genesis of skin tumors
Palabras llave : Xenoderma pigmentosum; Cockaine syndrome; Trichothiodystrophy; skin cancer.