An atypical monomelic presentation of Mazabraud syndrome
Mazabraud syndrome is a rare condition characterized by a combination of fibrous dysplasia and intramuscular myxomas.


In Mazabraud syndrome, the distribution of fibrous dysplasia is mostly polyomelic and frequently located in the femur, with myxomas adjacent to the fibrous dysplasia lesion of bone (mostly in the quadriceps muscle).

However, when presented as atypical clinical features, patients of Mazabraud syndrome is either misdiagnosed or difficult to diagnose. Published in the Indian Journal of Orthopaedics, the authors report an atypical monomelic case of Mazabraud syndrome in the right upper arm and discuss the difficulties in making an accurate diagnosis.

A 44 year old female patient, cotton spinner by occupation, presented with pain and a hard mass in the right upper arm which had gradually increased in size in the past 2 months. Physical examination revealed a painless oval soft-tissue mass within the biceps muscle of the right upper arm. There was no upper limb length discrepancy, cafe au lait spot or any endocrine problem.

A plain x-ray of the right humerus showed a typical "ground-glass-like" lesion without obvious soft tissue swelling and periosteal reaction. However, the bone cortex seemed to have defects near the fibrous dysplasia of the proximal humerus. CT demonstrated multiloculated radiolucent endosteal scalloping involving the full length of the right humeral shaft, combined with a solitary hypo-dense soft-tissue mass.

It seemed that some continuity did exist between fibrous dysplasia of the proximal humerus with soft-tissue mass. Clinicoradiological diagnosis was suspected soft-tissue sarcoma secondary to fibrous dysplasia of the humerus. Radiotherapy and chemotherapy were suggested along with wide excision surrounding the mass or amputation of the right upper limb and patient was transferred to this institute.

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