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皮肤松弛症:病例报告。

Cutis laxa: case report.

作者信息

Nascimento Gisele Moro do, Nunes Caroline Sampaio Alves, Menegotto Paula Fatuch, Raskin Salmo, Almeida Nádia de

机构信息

Pontifícia Universidade Católica do Paraná, Curitiba, PR, Brasil.

出版信息

An Bras Dermatol. 2010 Sep-Oct;85(5):684-6. doi: 10.1590/s0365-05962010000500013.

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.

摘要

皮肤松弛症是一种罕见的遗传性或获得性弹性组织疾病,其特征为皮肤缺乏弹性且松弛。先天性皮肤松弛症可能伴有内脏器官受累,从而导致预后较差。作者报告了一例女性患者的病例,该患者具有提示遗传性疾病的临床表现,其父母为近亲(二级表亲),且有一个兄弟死于类似的临床表现。对FBLN5基因进行遗传学研究对于确诊、明确预后以及为该家族提供遗传咨询非常重要。

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