| 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 |
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| 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. |
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| 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 |
| Two cases of a hitherto undescribed disease characterized by a gross defect in the collagen of the bone matrix. |
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