title: Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III.
abstract: Ehlers-Danlos syndrome (EDS) type I was diagnosed in an 18-year-old girl on the basis of marked skin hyperextensibility with generalized loose-jointedness, pigmented paper-tissue scars, and a pronounced tendency to bruising. Her father and one of her sisters showed a similar phenotype. Her mother was normal. Light microscopy of skin biopsies showed large, irregular collagen fibres in the father and daughter, with normal findings in the mother. Electron microscopy of the skin sections revealed a variation in diameter and shape of the collagen fibrils as well as slight dilatation of the rough endoplasmic reticulum of fibroblasts in father and daughter, but normal findings in the mother. Cultured fibroblasts did not show these changes. Measurements of collagen synthesis by fibroblast cultures showed that type III collagen levels were reduced to 50% of normal in the father and daughter, and were normal in the mother. The alpha I (III) proteins had a normal molecular weight, determined by SDS-PAGE electrophoresis. The phenotypes and biochemical results in the family members tested were compatible with autosomal dominant transmission. To our knowledge, this is the first report of a type III collagen deficiency in Ehlers-Danlos syndrome type I. The findings in this family, especially the pronounced bruising tendency, illustrate the heterogeneity within type I EDS.
mesh_terms: D002855:Chromatography, Thin Layer; D003094:Collagen / Q000172:deficiency*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000473:pathology; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D012867:Skin / Q000473:pathology / Q000648:ultrastructure*
chemical_list: D003094:Collagen