Fibrous dysplasia : a tale of two syndromes

Abstract

Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune–Albright syndrome is recognised by polyostotic FD, precocious puberty and ‘café au lait’ spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune– Albright syndrome. CONTRIBUTION : Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often noncontributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.