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Anais Brasileiros de Dermatologia
On-line version ISSN 1806-4841
NASCIMENTO, Gisele Moro do et al. Cutis laxa: case report. An. Bras. Dermatol. [online]. 2010, vol.85, n.5, pp.684-686. ISSN 1806-4841. http://dx.doi.org/10.1590/S0365-05962010000500013.
Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. The authors present the case of a female patient with clinical manifestations suggestive of the hereditary form of the disease, with consanguineous parents (second-degree cousins) and a brother who died with a similar clinical presentation. The genetic study of the FBLN5 gene was important to confirm the diagnosis, define the prognosis, and provide genetic counseling to the family.
Keywords : Consanguinity; Cutis laxa; Genetic counseling.