title: Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence.
abstract: Immunofluorescence showed that cultured skin fibroblasts from 15 out of 17 patients with Ehlers-Danlos syndrome type IV retained abnormal amounts of type III collagen within the cytoplasm. This was not shown by fibroblasts from normal subjects or from patients with other inherited connective tissue diseases. The diagnosis of Ehlers-Danlos syndrome type IV may be facilitated by this finding.
authors.affiliation: MRC Clinical Research Centre, Harrow, Middlesex, U.K.
authors.forename: A S
authors.initials: AS
authors.lastname: Temple
authors.forename: P
authors.initials: P
authors.lastname: Hinton
authors.forename: P
authors.initials: P
authors.lastname: Narcisi
authors.forename: F M
authors.initials: FM
authors.lastname: Pope
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000032:analysis*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000473:pathology*; D005260:Female; D005347:Fibroblasts / Q000032:analysis*; D005455:Fluorescent Antibody Technique; D006801:Humans; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000032:analysis
chemical_list: D003094:Collagen