Mazabraud syndrome

Mazabraud syndrome is a rare syndrome consisting of:

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.

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.

Bone tumours

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.

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Article information

rID: 6569
Section: Syndromes
Synonyms or Alternate Spellings:
  • Mazabraud syndrome

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