Fibrogenesis imperfecta ossium

2000-09-01   Michel Alcalay  , Jean-Loup Huret  , Daniel Bontoux  

1.Service de Rhumatologie, Centre Hospitalier Universitaire, 86021 Poitiers, France

Clinics and Pathology

Disease

disorder of bone mineralization with abnormal bone collagen morphology often associated with monoclonal gammopathy; may well be a clinical variant of multiple myeloma

Etiology

presents as an acquired metabolic bone disease of unknown aetiology; may also be a genetic disorder (at least in some cases), since a father and his daugther were affected

Epidemiology

25 cases diagnosed to date; onset of symptoms mostly in 50-60 yr-old patients

Clinics

  • a combination of progressive and incapacitating bone pain and spontaneous, multiple fractures typically localized at tendon insertion sites; leads to extreme bone fragility, progressive immobility and usually results in the patient becoming bedridden
  • serum alkaline phosphatase can be raised; monoclonal gammopathy is found in 25% of cases; 10 to 20% atypical plasma cells can be found in the bone marrow; however, evolution towards myeloma has never been reported
  • no other organ involvement has yet been reported
  • diagnosis on bone biopsy showing the collagen defect
    • Atlas Image
    X-rays of the cervical, thoracic, and lumbar spine (from left to right), and of the pelvic girdle (bottom) showing a marked demineralization with paucity of coarse, essentially vertical, trabeculae.

    Pathology

    mimics osteomalacia with abnormal bone mineralization but there is complete loss of the birefringence characteristic of oriented collagen fibers; at ultrastructural level the normal lamellar pattern of collagen fibers is replaced by curved and extremely variable in thickness collagen fibrils

    Treatment

    treatment with melphalan and corticosteroids over years has been successful in a number (but not all) of cases

    Prognosis

    median survival is about 3 yrs

    Note

    genes involved in the cases possibly inherited, if any, are unknown; genes involved in the plasma cells proliferation are also unknown

    Genes Involved and Proteins

    Article Bibliography

    Pubmed IDLast YearTitleAuthors
    132953411956Fibrogenesis imperfecta ossium; a generalised disease of bone characterised by defective formation of the collagen fibres of the bone matrix.BAKER SL et al
    59543731966Fibrogenesis imperfecta ossium.Baker SL et al
    39695821985Case report 296. Fibrogenesis imperfecta.Byers PD et al
    12177661975[Fibrogenesis imperfecta ossium. Study of 2 cases in the same family].Camus JP et al
    75597181995Fibrogenesis imperfecta ossium.Carr AJ et al
    72057491981[Axial osteomalacia. Comparative analysis with fibrogenesis imperfecta ossium (author's transl)].Christmann D et al
    55672611971Fibrogenesis imperfecta ossium. A collagen defect causing osteomalacia.Frame B et al
    55467111971Hematologic abnormalities in fibrogenesis imperfecta ossium.Golde D et al
    87810451996Fibrogenesis imperfecta ossium: ineffectiveness of melphalan.Lafage-Proust M et al
    34902681986Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness.Lang R et al
    73477351981Fibrogenesis imperfecta ossium (clinical, biochemical and ultrastructural investigations).Pinto F et al
    28038591989Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium.Ralphs JR et al
    28579331985Fibrogenesis imperfecta ossium: remission with melphalan.Stamp TC et al
    64669511984Fibrogenesis imperfecta ossium.Stoddart PG et al
    10850051976Fibrogenesis imperfecta ossium.Swan CH et al
    58047771969Fibrinogenesis imperfecta ossium.Thomas WC Jr et al
    104786201999Fibrogenesis imperfecta ossium: imaging correlation in three new patients.Wang CS et al

    Citation

    Michel Alcalay ; Jean-Loup Huret ; Daniel Bontoux

    Fibrogenesis imperfecta ossium

    Atlas Genet Cytogenet Oncol Haematol. 2000-09-01

    Online version: http://atlasgeneticsoncology.org/haematological/1190/fibrogenesis-imperfecta-ossium