Fact-sheet: Mazabraud syndrome
Updated on 09/10/2019 at 2:00 PM
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Definition
Variant of fibrous dysplasia, combining polyostotic involvement with one or more intramuscular myxomas.
These myxomas/hamartomas are located mainly in the muscles adjacent to the osseous lesions of dysplasia, particularly in the quadriceps.
Clinical features
Prevalence < 1/1,000,000Female predominanceMyxoma: painless massFibrous dysplasia: see dedicated chapter
Radiography
See Fibrous dysplasia chapter
Ultrasound
On ultrasound, the myxoma appears as a well-defined, hypoechoic, and generally homogeneous intramuscular lesion, with a hyperechoic rim. Doppler vascularity may be present.
CT
See Fibrous dysplasia lecture
MRI
On MRI, the hamartomas show T1 hyposignal, T2 hyperintensity (sometimes fluid-like), and marked, heterogeneous enhancement after gadolinium injection, depending on the amount of myxoid tissue and fibrous septa.
Nuclear medicine
Fibrous dysplasia = uptake on bone scintigraphy
Management
Surgical excision of the hamartomas /
They may recur after surgical excision.Follow-up of polyostotic osseous dysplasia: risk of sarcomatous degeneration.