FIBROGENESIS IMPERFECTA OSSIUM

  • 1 January 1976
    • journal article
    • research article
    • Vol. 45  (178) , 233-253
Abstract
The case history, clinical course and laboratory findings in a 66-yr-old woman with fibrogenesis imperfecta ossium were reported, the 6th case in the literature. The condition was characterized clinically by intractable skeletal pain and progressive immobility. Though serum alkaline phosphatase was raised in all patients, there were no specific hematological or biochemical findings. The radiological features of coarse and dense trabecular pattern with symmetrical and diffuse involvement of all bones without expansion or change of shape, together with periosteal reactions and soft tissue calcification were characteristic. The macroscopic appearance of bone showed large areas of opaque white and brittle trabeculae. The histological findings mimicked those of osteomalacia unless examined under polarized light which showed the loss of normal birefrigence. On EM, the normal lamellar pattern made up of orientated collagen fibrils all about 80 nm diameter was replaced by a random tangled pattern of much thinner irregularly curved fibrils, some as thin as 5 nm. The condition appears to be acquired, leading to erosion of the normal skeleton and replacement with an abnormal fiber deficient matrix. There is no definitive therapy at present.

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