Mazabraud’s syndrome is a rare, benign skeletal disorder characterized by the coexistence of fibrous dysplasia and intramuscular myxoma. Genetic factors have been implicated in its aetiology. Although not widely recognized among clinicians and radiologists, Mazabraud Syndrome is present in approximately 2% of fibrous dysplasia cases. We present the case of a 40-year-old female who presented with swelling and pain in her left shoulder. Radiological evaluation with X-ray and contrast-enhanced MRI revealed findings consistent with fibrous dysplasia and an intramuscular myxoma. The diagnosis of intramuscular myxoma was confirmed histopathologically through biopsy. Clinicians should consider the possibility of this syndrome when evaluating patients with fibrous dysplasia, especially when soft tissue lesions are present.
Bilgin et al. (Mon,) studied this question.