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Revista Cubana de Pediatría
versão On-line ISSN 1561-3119
Resumo
SANCHEZ MONTERREY, Ivón; SARMIENTO PORTAL, Yanett; CRESPO CAMPOS, Angelicia e PORTAL MIRANDA, María Elena. Severe congenital ichthyosis. Rev Cubana Pediatr [online]. 2009, vol.81, n.1, pp. 0-0. ISSN 1561-3119.
Ichthyosis is a rare disorder first described in 1750 by Reverend Oliver Hart in United States. Authors present a case of male fetus with external aspect of extreme genodermatosis, compatible with severe congenital ichthyosis, known as "Harlequin fetus". We performed a clinical and anatomical-pathologic characterization of disease, and it is offered a review on this rare genodermatosis with a heritance autosomal recessive pattern and for which there is not successful treatment, thus, it is lethal disease. Necropsy finding are offered as well as case photos.
Palavras-chave : Congenital ichthyosis; Harlequin fetus; genodermatosis..