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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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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 1190

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
  •   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

    Genetics

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

    Bibliography

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    BAKER SL
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    Two cases of a hitherto undescribed disease characterized by a gross defect in the collagen of the bone matrix.
    Baker SL, Turnbull HM
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    Case report 296. Fibrogenesis imperfecta.
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    [Fibrogenesis imperfecta ossium. Study of 2 cases in the same family]
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    Fibrogenesis imperfecta ossium.
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    The Journal of bone and joint surgery. British volume. 1995 ; 77 (5) : 820-829.
    PMID 7559718
     
    [Axial osteomalacia. Comparative analysis with fibrogenesis imperfecta ossium (author's transl)]
    Christmann D, Wenger JJ, Dosch JC, Schraub M, Wackenheim A
    Journal de radiologie. 1981 ; 62 (1) : 37-41.
    PMID 7205749
     
    Fibrogenesis imperfecta ossium. A collagen defect causing osteomalacia.
    Frame B, Frost HM, Pak CY, Reynolds W, Argen RJ
    The New England journal of medicine. 1971 ; 285 (14) : 769-772.
    PMID 5567261
     
    Hematologic abnormalities in fibrogenesis imperfecta ossium.
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    The Journal of bone and joint surgery. American volume. 1971 ; 53 (2) : 365-370.
    PMID 5546711
     
    Fibrogenesis imperfecta ossium: ineffectiveness of melphalan.
    Lafage-Proust M, Schaeverbeke T, Dehais J
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    PMID 8781045
     
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    Fibrogenesis imperfecta ossium (clinical, biochemical and ultrastructural investigations).
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    Italian journal of orthopaedics and traumatology. 1981 ; 7 (3) : 371-385.
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    Fibrogenesis imperfecta ossium.
    Pombo FF, Arrojo Suarez de Centi L Verela Romero JR, Martin Egana R, Amal Monreal F
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    Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium.
    Ralphs JR, Stamp TC, Dopping-Hepenstal PJ, Ali SY
    Bone. 1989 ; 10 (4) : 243-249.
    PMID 2803859
     
    Fibrogenesis imperfecta ossium: remission with melphalan.
    Stamp TC, Byers PD, Ali SY, Jenkins MV, Willoughby JM
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    PMID 2857933
     
    Fibrogenesis imperfecta ossium.
    Stoddart PG, Wickremaratchi T, Hollingworth P, Watt I
    The British journal of radiology. 1984 ; 57 (680) : 744-751.
    PMID 6466951
     
    Fibrogenesis imperfecta ossium.
    Swan CH, Shah K, Brewer DB, Cooke WT
    The Quarterly journal of medicine. 1976 ; 45 (178) : 233-253.
    PMID 1085005
     
    Fibrinogenesis imperfecta ossium.
    Thomas WC Jr, Moore TH
    Transactions of the American Clinical and Climatological Association. 1969 ; 80 : 54-62.
    PMID 5804777
     
    Fibrogenesis imperfecta ossium: imaging correlation in three new patients.
    Wang CS, Steinbach LS, Campbell JB, Hayashi G, Yoon ST, Johnston JO
    Skeletal radiology. 1999 ; 28 (7) : 390-395.
    PMID 10478620
     

    Citation

    This paper should be referenced as such :
    Bontoux, D ; Alcalay, M ; Huret, JL
    Fibrogenesis imperfecta ossium
    Atlas Genet Cytogenet Oncol Haematol. 2000;4(4):198-199.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Anomalies/FibrogImperfOsID1190.html


    External links

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