title: Histological investigation of skin biopsies in otosclerosis and osteogenesis imperfecta.
abstract: Histological investigation of skin biopsies in four patients with osteogenesis imperfecta, nine patients with otosclerosis and 13 sex- and age-matched normal controls was carried out blindly. The dermal thickness was markedly reduced in osteogenesis imperfecta and slightly reduced in otosclerosis. Minor degenerative changes in the elastic fibres were seen in otosclerosis, while the elastic fibres were found to be more degenerated and more numerous in osteogenesis imperfecta. Our study does not support the hypothesis of otosclerosis being a localized form of osteogenesis imperfecta. The minor changes in the elastic fibres in otosclerosis indicate that further studies of the elastic fibres and of collagen will be necessary to determine whether otosclerosis is a localized disease or part of a general connective tissue disorder.
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000473:pathology*; D010040:Otosclerosis / Q000473:pathology*; D012867:Skin / Q000473:pathology*