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Fibrogenesis imperfecta ossium

Written2000-09Daniel Bontoux, Michel Alcalay, Jean-Loup Huret
Service de Rhumatologie, Centre Hospitalier Universitaire, 86021 Poitiers, France

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Atlas_Id 5081
Phylum Lung, Heart, Skin, Other::Fibrogenesis imperfecta ossium
WHO/OMS Classification Lung, Heart, Skin, Other

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
  • 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
    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


    Fibrogenesis imperfecta ossium; a generalised disease of bone characterised by defective formation of the collagen fibres of the bone matrix.
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    PMID 10478620


    This paper should be referenced as such :
    Bontoux D, Alcalay M, Huret JL
    Fibrogenesis imperfecta ossiu
    Atlas Genet Cytogenet Oncol Haematol. in press
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