Mazabraud syndrome is a rare syndrome comprising of:
- fibrous dysplasia: usually polyostotic 2
- multiple soft tissue myxomas (intramuscular myxomas): typically in large muscle groups
It is most frequently seen in women (~70%) and usually present in middle age (mean age 46; range 17-82)7.
Patients usually present with a painless mass with a history of long duration 5.
Intramuscular myxomas are commonly found in the thigh, shoulder, and buttocks and tend to be in the lower extremities 6.
Molecular genetic analysis has found that mutations in GNAS1 gene involved in cell proliferation, are expressed in both lesions 3,4.
Treatment and prognosis
There is an increased risk of osseous malignant transformation.
Although malignant transformation of the myxoma has not been reported 8, a few cases of osteosarcoma and fibrosarcoma arising from fibrous dysplasia lesions has been reported 9.
High recurrent rate, locally or in adjacent muscles have been reported, with a time to recurrence of up to more than 10 years 10.
The differential diagnosis for bone tumours is dependent on the age of the patient, with a very different set of differentials for the paediatric patient.
- bone-forming tumours
- cartilage-forming tumours
- chondromyxoid fibroma
- fibrous bone lesions
- bone marrow tumours
- other bone tumours or tumour-like lesions
- aneurysmal bone cyst
- benign fibrous histiocytoma
- giant cell tumour of bone
- Gorham massive osteolysis
- haemophilic pseudotumour
- intradiploic epidermoid cyst
- intraosseous lipoma
- musculoskeletal angiosarcoma
- musculoskeletal haemangiopericytoma
- primary intraosseous haemangioma
- simple bone cyst
- impending fracture risk
- 1. Fitzpatrick Kimberly A., Mihra S. Taljanovic, Donald P. Speer et al. “Imaging Findings of Fibrous Dysplasia with Histopathologic and Intraoperative Correlation.” Am. J. Roentgenol. 182, no. 6 (June 1, 2004): 1389-1398. [Link].
- 2. Kransdorf Mark J. and Mark D. Murphey. “Case 12: Mazabraud Syndrome.” Radiology 212, no. 1 (July 1, 1999): 129-132. [Link].
- 3. DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005;87 (8): 1848-64. doi:10.2106/JBJS.D.02942 - Pubmed citation
- 4. Ding C, Deng Z, Levine MA. A highly sensitive PCR method detects activating mutations of the GNAS1 gene in peripheral blood cells of patients with McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Miner Res 2001;16:S417
- 5. Kabukcuoglu F, Kabukcuoglu Y, Yilmaz B, Erdem Y, Evren I. Mazabraud’s syndrome: Intramuscular myxoma associated with fibrous dysplasia. Pathol Oncol Res 2004;10:121-3.
- 6. Gaumetou E, Tomeno B, Anract P. Mazabraud's syndrome. A case with multiple myxomas. Orthop Traumatol Surg Res 2012;98:455–60
- 7. McLaughlin Andrew, Paul Stalley, Michael Magee et al. “Correlative Imaging in an Atypical Case of Mazabraud Syndrome.” Am. J. Roentgenol. 189, no. 6 (December 1, 2007): W353-356. doi:10.2214/AJR.05.1496.
- 8. Cabral CE, Guedes P, Fonseca T, Rezende JF, Cruz Junior LC, Smith J. Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud’s syndrome. Skeletal Radiol 1998;27:278—82.
- 9. Munksgaard, Peter Svenssen et al. “Mazabraud’s Syndrome: Case Report and Literature Review.” Acta Radiologica Short Reports 2.4 (2013): 2047981613492532. PMC. Web. 21 Feb. 2016
- 10. Szendroi M, Rahoty P, Antal I, Kiss J. Fibrous dysplasia associated with intramuscular myxoma (Mazabraud’s syndrome): a long-term follow-up of three cases. J Cancer Res Clin Oncol 1998;124:401-6