| Literature DB >> 21152794 |
Gisele Moro do Nascimento1, Caroline Sampaio Alves Nunes, Paula Fatuch Menegotto, Salmo Raskin, Nádia de Almeida.
Abstract
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.Entities:
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Year: 2010 PMID: 21152794 DOI: 10.1590/s0365-05962010000500013
Source DB: PubMed Journal: An Bras Dermatol ISSN: 0365-0596 Impact factor: 1.896