title: Cutis laxa of the autosomal recessive type in a consanguineous family.
abstract: Cutis laxa comprises a group of uncommon disorders of elastin fibers first described by Graf in the early 19th 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 severe case of autosomal recessive type 1 cutis laxa in 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.
authors.affiliation: Department of Dermatology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.
authors.forename: Sofie
authors.initials: S
authors.lastname: de Schepper
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
authors.forename: Anne
authors.initials: A
authors.lastname: de Paepe
authors.forename: Jo
authors.initials: J
authors.lastname: Lambert
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Naeyaert
mesh_terms: D003241:Consanguinity; D003483:Cutis Laxa / Q000145:classification / Q000235:genetics* / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D010375:Pedigree; D011994:Recombinant Proteins / Q000235:genetics; D012867:Skin / Q000473:pathology
chemical_list: D016326:Extracellular Matrix Proteins; C492373:FBLN5 protein, human; D011994:Recombinant Proteins