Cutis laxa: case report.
نویسندگان
چکیده
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.
منابع مشابه
PRESENTATION OF A PEDIGREE OF AN IRANIAN FAMILY WITH TWO MEMBERS WITH CUTIS LAXA AUTOSOMA LRECESSIVE TYPE I
Congenital cutis laxa is an exceptional condition. No large scale pedigree has been reported from Iran. We report a family with 106 members with two members affected with cutis laxa. Our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. Their ...
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عنوان ژورنال:
- Anais brasileiros de dermatologia
دوره 85 5 شماره
صفحات -
تاریخ انتشار 2010