Publication
Title
Cutis Laxa of the autosomal recessive type in a consanguineous family
Author
Abstract
Cutis laxa comprises a group of uncommon disorders of elastin fibers first described by Graf in the early 19(th) century. The main characteristic is a redundant, loose skin with deep wrinkling or sagging combined with a variable systemic involvement. Histopathologic examination presents various abnormalities of the elastin fibers. We distinguish congenital as well as acquired forms of generalized or localized cutis laxa. The mode of inheritance shows great heterogeneity: autosomal dominant, autosomal recessive and X-linked recessive inheritance have all been described. We present a female patient, born in a large, consanguineous Turkish family, where three other family members had already died of the disease. A missense mutation of fibulin-5 was identified in this patient.
Language
English
Source (journal)
European journal of dermatology. - Montrouge, 1991, currens
Publication
Montrouge : John Libbey , 2003
ISSN
1167-1122 [print]
1952-4013 [online]
Volume/pages
13 :6 (2003) , p. 529-533
ISI
000187509300004
UAntwerpen
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.11.2018
Last edited 04.09.2021