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Cútis laxa: relato de caso / Cutis laxa: case report
Nascimento, Gisele Moro do; Nunes, Caroline Sampaio Alves; Menegotto, Paula Fatuch; Raskin, Salmo; Almeida, Nádia de.
  • Nascimento, Gisele Moro do; s.af
  • Nunes, Caroline Sampaio Alves; s.af
  • Menegotto, Paula Fatuch; s.af
  • Raskin, Salmo; s.af
  • Almeida, Nádia de; s.af
An. bras. dermatol ; 85(5): 684-686, set.-out. 2010. ilus
Article in Portuguese | LILACS | ID: lil-567830
RESUMO
A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico. Os autores relatam o caso de uma paciente, com quadro clínico sugestivo da forma hereditária da doença, com pais consangüíneos (primos de 2º grau) e irmão falecido com clínica semelhante. O estudo genético do gene FBLN5 teve importância na confirmação diagnóstica, na definição do prognóstico e no aconselhamento genético familiar.
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.
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Full text: Available Index: LILACS (Americas) Main subject: Cutis Laxa Type of study: Diagnostic study / Prognostic study Limits: Child, preschool / Female / Humans Language: Portuguese Journal: An. bras. dermatol Journal subject: Dermatology Year: 2010 Type: Article

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Full text: Available Index: LILACS (Americas) Main subject: Cutis Laxa Type of study: Diagnostic study / Prognostic study Limits: Child, preschool / Female / Humans Language: Portuguese Journal: An. bras. dermatol Journal subject: Dermatology Year: 2010 Type: Article