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(2005) http://www.orpha.net/data/patho/GB/uk-Mazabraud.pdf
Mazabraud's syndrome is a rare disease marked by the association of intramuscular myxoma with fibrous dysplasia. The number of reported cases in 2004 was 55. Myxomas generally occur as multiple masses and fibrous dysplasia most commonly appears in its polyostotic form. Both lesions tend to involve the same anatomical region. Patients usually present with a painless mass with a history of long duration due to lack of symptoms. Most fibrous dysplasias are asymptomatic but some may appear with pain, skeletal deformities or fractures. Generally fibrous dysplasias occur during the growth period and the myxomas appear during adult life. The relationship between fibrous dysplasia and myxoma remains unclear, but an underlying localized error in tissue metabolism has been proposed. Molecular genetic analysis has revealed activating mutations in the GNAS1 gene. Multiple benign lesions and richly myxoid malignant lesions may be confused with myxoma. Histopathologic examination should be carried out to exclude malignancy. Treatment is dependent on the extent of the lesions. Malignant transformation of myxoma has not been reported, although local recurrence may be expected if resection was incomplete. While sarcomatous transformation is uncommon in fibrous dysplasia, an increased risk of transformation has been reported for patients with Mazabraud's syndrome. In order to ensure appropriate management, it is important to recognize Mazabraud's syndrome in patients presenting with a soft tissue mass and multiple bone lesions.
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