Fibrogenesis imperfecta ossium : imaging correlation in three new patients

• Published in: Skeletal radiology 1999-07, Vol.28 (7), p.390-395
• Main Authors: WANG, C. S. F, STEINBACH, L. S, CAMPBELL, J. B, HAYASHI, G, YOON, S. T, JOHNSTON, J. O
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Bone and Bones - diagnostic imaging; Bone and Bones - pathology; Bone Diseases, Metabolic - diagnosis; Bone Diseases, Metabolic - diagnostic imaging; Collagen Diseases - diagnosis; Collagen Diseases - diagnostic imaging; Diseases of the osteoarticular system; Female; Fractures, Spontaneous - diagnosis; Fractures, Spontaneous - diagnostic imaging; Humans; Magnetic Resonance Imaging; Male; Medical research; Medical sciences; Middle Aged; Miscellaneous. Osteoarticular involvement in other diseases; NMR; Nuclear magnetic resonance; Radiography; Retrospective Studies; Spine - diagnostic imaging
• ISSN: 0364-2348; 1432-2161
• DOI: 10.1007/s002560050535

Fibrogenesis imperfecta ossium is an extremely rare disorder that can easily be misdiagnosed. We retrospectively reviewed the clinical and imaging data of three confirmed cases of fibrogenesis imperfecta. The patients consisted of two men and one woman, ranging in age from 40 to 53 years. Radiography was performed in all the patients. One patient had a 3-year follow-up of the thoracolumbar spine with conventional radiography and thoracolumbar magnetic resonance (MR) imaging. Open biopsy was performed in all cases, confirming the diagnosis of fibrogenesis imperfecta ossium. All our cases demonstrated "fishnet" trabecular pattern by conventional radiographs, and a pelvis radiograph of one patient showed an equivocal sclerosis pattern. Multiple fractures were noted in two patients. A pseudoexostosis was present in the ilium in one patient. Thoracolumbar MR imaging demonstrated diffuse low signal intensity within the medullary space on both T1-weighed and T2-weighted images, except for a region of increased signal intensity in the L1 and L2 vertebral bodies on T2-weighed images due to edema from acute collapse. Although uncommon, fibrogenesis imperfecta ossium should be considered in a previously healthy patient with a combination of progressive bone pain, unexplained fractures, a radiologic pattern of fishnet osteopenia and MR imaging of low signal intensity bone marrow on both T1-weighted and T2-weighted images.