title: Autosomal recessive cutis laxa syndrome. A case report.
abstract: Congenital cutis laxa (CCL) is a rare, genetically heterogeneous connective tissue disorder, manifested by loose, hanging skin, giving the appearance of premature aging. We report a 6-year-old female child with autosomal recessive CCL type III, to assess possible correlations between clinical, ultrastructural, cellular and biochemical features. Morphological aberrations of the elastic and collagen tissue, increased collagen I mRNA expression associated with increased protein synthesis and increased collagenase gene expression of the cutis laxa fibroblasts could be established. Our results suggest that CCL is not only a disease of the elastic fibers of the connective tissue but also of the collagen fibers, with a central role of the fibroblast.
authors.affiliation: Clinic of Dermatology, Klinikum Erfurt, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Jung
authors.forename: U
authors.initials: U
authors.lastname: Ueberham
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: K
authors.initials: K
authors.lastname: Bosler
authors.forename: B
authors.initials: B
authors.lastname: John
authors.forename: R
authors.initials: R
authors.lastname: Linse
mesh_terms: D002478:Cells, Cultured; D002648:Child; D003094:Collagen / Q000096:biosynthesis / Q000235:genetics / Q000648:ultrastructure; D017364:Collagenases / Q000235:genetics; D003238:Connective Tissue / Q000378:metabolism / Q000473:pathology; D003483:Cutis Laxa / Q000151:congenital / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004547:Elastic Tissue / Q000378:metabolism / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism / Q000473:pathology; D005786:Gene Expression Regulation; D015971:Gene Expression Regulation, Enzymologic; D005808:Genes, Recessive; D006801:Humans; D008854:Microscopy, Electron; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D003094:Collagen; D017364:Collagenases