Mazabraud's Syndrome - A Diagnosis Commonly Missed.

Abstract

Introduction:Mazabraud’s syndrome is a rare benign disorder characterized by the association of single or multiple intramuscular myxomas with monostotic or polyostotic form of fibrous dysplasia. Around 80 cases have been described till date; however, a higher incidence may be expected due to silent nature of the disease and missed diagnosis. The authors report one such case of a missed diagnosis.Case Report:A 39-year-old lady presented with recurrent soft tissue myxomas in thigh. A thorough evaluation with radiographs and magnetic resonance imaging (MRI) and a clinical suspicion of this rare entity helped in making the diagnosis of Mazabraud’s syndrome. The patient was treated with wide excision of the recurrent thigh swelling and watchful observation of two other asymptomatic swelling detected on MRI examination. Bisphosphonate therapy was given for fibrous dysplasia. At latest follow-up after 2 years, the patient was asymptomatic with no recurrence.Conclusion:The report highlights the importance of a high degree of suspicion of this clinical entity in patients treated for recurrent soft tissue swelling as both myxomas and fibrous dysplasia behave differently than their isolated counterparts.