Imaging findings in Mazabraud's syndrome: seven new cases

Abstract.

Objective: To present seven new cases of Mazabraud's syndrome with particular observations on the magnetic resonance imaging findings and a review of the literature. Design and patients: A multi-institutional retrospective review was performed on seven patients with confirmed Mazabraud's syndrome. The patient group was composed of six women and one man, ranging in age from 39 to 65 years, with a mean age of 53 years. Results: Fibrous dysplasia was more often polyostotic (n=6) and right-sided (n=4). Fibrous dysplasia involved the femur in five cases. The soft tissue myxomas were multiple in four cases and were intramuscular in origin. The most commonly affected location was the thigh (n=4). On computed tomography, myxomas were well-circumscribed, low-attenuation masses. On magnetic resonance images, the lesions were significantly low in signal intensity on T1-weighted images and high in signal intensity on T2-weighted images relative to adjacent skeletal muscle. Enhancement of the myxomas was heterogeneous with irregular, peripheral rim enhancement, and a variable degree of central enhancement depending on the abundance of solid myxoid tissue and bridging fibrous septa. Conclusions: Knowledge of Mazabraud's syndrome and the imaging appearance of intramuscular myxoma is important in order to avoid unnecessary biopsies of the osseous and soft tissue lesions. The unique features of this disorder allow discrimination from soft tissue malignancies such as sarcoma.