Familial Osteofibrous Dysplasia<sbt aid="964518">A Case Series</sbt>

Abstract

O steofibrous dysplasia is a benign bone dysplasia in which lytic lesions occur in the cortex of the tibia and/or fibula in skeletally immature patients. Campanacci proposed the term “osteofibrous dysplasia” and described the clinical and pathologic findings1,2. The dysplasia may be clinically silent, so the true incidence of the disease is unknown. Symptomatic children present with anterolateral bowing of the affected bones or with pathologic fractures. As a result of the site of involvement and the propensity for pathologic fractures, this condition may be confused with congenital pseudarthrosis of the tibia. Pathologic specimens from sites affected by osteofibrous dysplasia show bland fibroblastic tissue associated with immature woven bone rimmed by osteoblasts3-5. While there has been a questionable association with evolution into adamantinoma, the pathologic appearance of osteofibrous dysplasia does not include neoplastic features. Osteofibrous dysplasia was not thought to be an inherited condition until a recent report, by Hunter and Jarvis, on two siblings with pathologic fractures through lesions resembling osteofibrous dysplasia6. We describe six individuals, in three generations of a kindred of nineteen people, who had lytic lesions of the tibia that resembled osteofibrous dysplasia radiographically and histologically. All six patients were treated for pathologic fracture of the tibia or fibula at our institution. W ith institutional review board approval, a four-generation pedigree was obtained (Fig. 1). One patient presented with tibial lesions and gave a positive family history, after which medical records and radiographs were reviewed retrospectively to identify all of that patients' family members who had had lower-extremity fractures in childhood. All of the affected patients had been treated at our hospital between 1957 and the time of the study. There were twenty-two relatives from four generations; three had died before the initiation of the study. …