Mazabraud's syndrome. A case with multiple myxomas

Abstract

Mazabraud'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.

Mazabraud's syndrome: Report of its first incidence in the Middle East and a literature review

“…Close patient follow up is warranted although fibrous dysplasia is mostly benign, malignant transformation into osteogenic sarcomas was found. Mazabraud's Syndrome patients are at increased tendency with unclear mechanism [14] . For myxomas, malignant transformation has never been reported but an increased risk of recurrence was found either locally or at distant location especially with incomplete excision [5,14] .…”

Cellular myxoma of the lumbar spine

“…A rare association with a variety of other pathologies has been described and includes Fibrous dysplasia (e.g., Aoki et al [2], 1995), Albright′s Syndrome, [17]and Mazabraud′s Syndrome. [11]The average size at the time of diagnosis varies greatly, the majority measuring between 5 and 10 cm. The tumor is usually well-circumscribed grossly, but infiltration into adjacent skeletal muscle and/or soft tissue is not uncommon.…”

Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud syndrome

“…Mazabraud syndrome was first described by Henschen in 1926, but it was Mazabraud's team in 1967 that established a clear association between fibrous dysplasia and muscular myxomas in the French literature. [ 1 ] Approximately 80 cases have been described till date,[ 2 ] but as the condition remains clinically silent, it could be more common than previously thought. [ 3 ] We present a new case that exemplifies the typical clinical features and radiological findings of this uncommon condition.…”