| Autor: |
Nascimento GM; Pontifícia Universidade Católica do Paraná, Curitiba, PR, Brasil. gisele_moro@hotmail.com, Nunes CS, Menegotto PF, Raskin S, Almeida Nd |
| Jazyk: |
angličtina |
| Zdroj: |
Anais brasileiros de dermatologia [An Bras Dermatol] 2010 Sep-Oct; Vol. 85 (5), pp. 684-6. |
| DOI: |
10.1590/s0365-05962010000500013 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
