Mazabraud syndrome

Dr Yair Glick and A.Prof Frank Gaillard et al.

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.

Share article

Article information

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

Cases and figures

  • Drag
    Case 1: x-ray
    Drag here to reorder.
  • Drag
    Case 1: MRI
    Drag here to reorder.
  • Drag
    Case 2: x-ray
    Drag here to reorder.
  • Drag
    Sagittal T1-weigh...
    Case 2: MRI
    Drag here to reorder.
  • Drag
    Case 3
    Drag here to reorder.
  • Updating… Please wait.

    Alert accept

    Error Unable to process the form. Check for errors and try again.

    Alert accept Thank you for updating your details.