Revista Cubana de Pediatría
versão On-line ISSN 1561-3119
FALCON LINCHETA, Leopoldina; DORTICOS BALEA, Aida; DANIEL SIMON, Ramón e GARBAYO OTANO, Enrique. Xeroderma pigmentoso. Síndrome de Sanctis Cacchione: Presentación de 1 caso. Rev Cubana Pediatr [online]. 1998, vol.70, n.2, pp. 113-116. ISSN 1561-3119.
Xeroderma pigmentosum is a rare genetic affection that transforms cellular hypersensitivity to ultraviolet radiation in association with an abnormal repairing of the desoxyribonucleic acid, and that produces freckles, photophobia and, subsequently, neoplasitc changes in zones exposed to sunlight. In this paper it is reported the first case detected in Cuba in a five-year-old child suffering from the most severe manifestation of this disease, the Sanctis Cacchione´s syndrome, which involves skin and ocular manifestations with serious somatic and neurological disorders and provokes lethal damages.
Palavras-chave : XERODERMA PIGMENTOSUM; COCKAYNE SYNDROME.