title: Cutis laxa: case report.
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.
authors.affiliation: Pontifícia Universidade Católica do Paraná, Curitiba, PR, Brasil. gisele_moro@hotmail.com
authors.forename: Gisele Moro do
authors.initials: GM
authors.lastname: Nascimento
authors.forename: Caroline Sampaio Alves
authors.initials: CS
authors.lastname: Nunes
authors.forename: Paula Fatuch
authors.initials: PF
authors.lastname: Menegotto
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Nádia de
authors.initials: Nd
authors.lastname: Almeida
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D003483:Cutis Laxa / Q000151:congenital* / Q000175:diagnosis; D016326:Extracellular Matrix Proteins / Q000235:genetics; D019066:Facies; D005260:Female; D006801:Humans
chemical_list: D016326:Extracellular Matrix Proteins; C492373:FBLN5 protein, human