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 Printable version |
Cutis Laxa of the autosomal recessive type in a consanguineous family |
European Journal of Dermatology. Volume 13, Number 6, 529-33, November - December 2003, Genes and Skin
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 Free Article
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Author(s) : Sofie DE SCHEPPER, Bart LOEYS, Anne DE PAEPE, Jo LAMBERT, Jean‐Marie NAEYAERT |
Summary : 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 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. |
Keywords : Cutis Laxa, elastin fibers, elastolysis, Fibulin‐5 |
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