title: Leopard syndrome associated with hyperelastic skin: analysis of collagen metabolism in cultured skin fibroblasts.
abstract: We present a patient with Leopard syndrome and hyperelastic skin. Biochemical analysis using cultured skin fibroblasts showed normal type III and V collagen synthesis, lysyl hydroxylation level of type I procollagen and processing of pro-alpha(1) and alpha(2)(I). Our results suggest that molecular defects of hyperelasticity in Leopard syndrome are not related to abnormal collagen metabolism, although not all steps of collagen synthesis have been investigated.
authors.affiliation: Department of Dermatology, National Defense Medical College, Tokorozawa, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ohkura
authors.forename: Y
authors.initials: Y
authors.lastname: Ohnishi
authors.forename: A
authors.initials: A
authors.lastname: Kawada
authors.forename: S
authors.initials: S
authors.lastname: Tajima
authors.forename: A
authors.initials: A
authors.lastname: Ishibashi
authors.forename: K
authors.initials: K
authors.lastname: Ono
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002478:Cells, Cultured; D003094:Collagen / Q000378:metabolism; D003638:Deafness / Q000473:pathology; D004548:Elasticity; D005128:Eye Diseases / Q000473:pathology; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005832:Genital Diseases, Male / Q000473:pathology; D006130:Growth Disorders / Q000473:pathology; D006331:Heart Diseases / Q000473:pathology; D006801:Humans; D007911:Lentigo / Q000473:pathology; D008171:Lung Diseases / Q000473:pathology; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000166:cytology / Q000378:metabolism / Q000503:physiopathology*; D013577:Syndrome
chemical_list: D003094:Collagen