Nascimento Gisele Moro do, Nunes Caroline Sampaio Alves, Menegotto Paula Fatuch, Raskin Salmo, Almeida Nádia de
Pontifícia Universidade Católica do Paraná, Curitiba, PR, Brasil.
An Bras Dermatol. 2010 Sep-Oct;85(5):684-6. doi: 10.1590/s0365-05962010000500013.
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.
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。
