Successive generations with inherited craniofacial fibrous dysplasia

Abstract

Craniofacial fibrous dysplasia is a benign fibro-osseous lesion of bone that only affects the bones of the craniofacial complex. Here, we report a case of craniofacial fibrous dysplasia in a 16-year-old Thai male who presented with mild swelling and tenderness at the mandibular right first molar area and ipsilateral nasal congestion. Conventional and cone-beam CT radiographic examinations were performed. The radiographs revealed multiple mixed radiolucent and radiopaque lesions involving most of the craniofacial bones. The first biopsy from the right mandibular area was diagnosed as juvenile ossifying fibroma, whereas a biopsy from the right maxillary area was diagnosed as fibrous dysplasia. The defects appeared to have a genetic basis, because his mother and younger brother had the same clinical and radiological findings. Furthermore, the family history given by his mother revealed that several other members of her family had similar clinical signs and symptoms. We diagnosed this case as inherited craniofacial fibrous dysplasia on the basis of previously reported clinical, radiographic and histologic findings as well as family history.