title: The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).
abstract: Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasize the remarkable similarity of physical signs in all four cases. The striking skin fragility which attends the phenotype is highly distinctive, so that the diagnosis may be suspected on clinical grounds. The confirmatory diagnostic procedures are discussed.
authors.affiliation: Department of Paediatric Genetics, Hospital for Children, London, UK.
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: L T
authors.initials: LT
authors.lastname: Smith
authors.forename: B D
authors.initials: BD
authors.lastname: Lake
authors.forename: M
authors.initials: M
authors.lastname: Rossiter
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: D000293:Adolescent; D055395:Bone Morphogenetic Protein 1; D019485:Bone Morphogenetic Proteins; D003094:Collagen / Q000378:metabolism / Q000648:ultrastructure; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000209:etiology* / Q000473:pathology; D010450:Endopeptidases / Q000235:genetics; D005260:Female; D006801:Humans; D008666:Metalloendopeptidases; D008854:Microscopy, Electron; D009154:Mutation; D010641:Phenotype; D011499:Protein Processing, Post-Translational; D012867:Skin / Q000378:metabolism / Q000473:pathology
chemical_list: D019485:Bone Morphogenetic Proteins; D003094:Collagen; D010450:Endopeptidases; D008666:Metalloendopeptidases; C525705:BMP1 protein, human; D055395:Bone Morphogenetic Protein 1