Mazabraud syndrome

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Mazabraud syndrome

Synonyms: Myxoma with fibrous dysplasia

Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain skeletal deformities or fractures while intramuscular myxoma associated with polyostotic fibrous dysplasia (see this term) is usually multifocal typically occuring in the vicinity of skeletal lesions and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

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My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


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