Mazabraud's syndrome. A case with multiple myxomas

SummaryMazabraud's syndrome is defined as the combination of one or more intramuscular myxomas and fibrous dysplasia of bone. The diagnosis is important given the increased risk of malignant transformation of the bone lesions. We report a case in a 56-year-old patient with a 14-year follow-up during which multiple surgical procedures were required to remove myxomas (present at more than 15 sites). The resected myxomas were large and progressive. Unique features in this case include the long follow-up and the number of myxomas considerably above the average for this disease. Eighty other cases of Mazabraud's syndrome have been reported. The condition predominantly affects middle-aged women (mean age, 44 years). The bone lesions may be monostotic or polyostotic. Mazabraud's syndrome may be difficult to distinguish from soft-tissue sarcoma or neurofibromatosis. Identification of the underlying genetic abnormality provides diagnostic confirmation, as shown in our patient. The management consists in surgery to remove the myxomas and magnetic resonance imaging at regular intervals to monitor the lesions.