title: Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety.
abstract: With few exceptions, epidermolysis bullosa simplex (EBS) is transmitted as an autosomal dominant trait. All cases of autosomal recessive EBS reported to date have been associated with significant extracutaneous disease (including anemia, marked growth retardation, dentition abnormalities, and/or concurrent neuromuscular disease), early infant mortality, or often, rather extensive cutaneous involvement. In some, the cutaneous morphology has even suggested junctional or dystrophic disease. We cared for a kindred in which four individuals were affected with an autosomal recessive form of EBS with cutaneous findings most often suggestive of Weber-Cockayne disease. Except for scattered oral erosions in one patient, there was no evidence of associated extracutaneous disease. These findings demonstrate the increasing complexity of even the simplex forms of inherited epidermolysis bullosa. This obviously has implications for genetic counseling.
authors.affiliation: Department of Dermatology, School of Medicine, University of Alabama, Birmingham 35294.
authors.forename: J D
authors.initials: JD
authors.lastname: Fine
authors.forename: L
authors.initials: L
authors.lastname: Johnson
authors.forename: T
authors.initials: T
authors.lastname: Wright
authors.forename: Y
authors.initials: Y
authors.lastname: Horiguchi
mesh_terms: D000293:Adolescent; D001324:Autoantigens / Q000032:analysis; D002352:Carrier Proteins / Q000032:analysis; D002648:Child; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D005260:Female; D005455:Fluorescent Antibody Technique; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D010375:Pedigree; D011946:Receptors, Antigen / Q000032:analysis; D011956:Receptors, Cell Surface / Q000032:analysis; D038981:Receptors, Collagen; D011971:Receptors, Immunologic / Q000032:analysis; D017474:Receptors, Laminin; D012867:Skin / Q000648:ultrastructure; D000097805:Collagen Type XVII
chemical_list: D001324:Autoantigens; D002352:Carrier Proteins; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D011946:Receptors, Antigen; D011956:Receptors, Cell Surface; D038981:Receptors, Collagen; D011971:Receptors, Immunologic; D017474:Receptors, Laminin; D000097805:Collagen Type XVII; C486268:DST protein, human