Mazabraud syndrome

Mazabraud syndrome is a rare condition characterized by a combination of fibrous dysplasia and intramuscular myxomas.

In Mazabraud syndrome, the distribution of fibrous dysplasia is mostly polyomelic and frequently located in the femur, with myxomas adjacent to the fibrous dysplasia lesion of bone (mostly in the quadriceps muscle).

Mazabraud syndrome is rare benign disorder defined as combination of monostotic or polyostotic fibrous dysplasia with single or multiple intramuscular myxomas. Fibrous dysplasia developed in bone is a benign and fibro osseous lesion, and myxomas presented as benign mesenchymal tumors. The first case was reported by Mazabraud, which was finally named after his name. Although there is no evidence of continuity between the fibrous dysplasia and myxomas, the myxoma is generally located in the vicinity of the affected bones.The onset of fibrous dysplasia often occurs at younger age, which predates the appearance of myxoma mostly presented in adulthood. The disease has a predilection of women than men and the etiology is still unknown. Some study by genetic analyses has shown certain point mutations in the GNAS-1 gene, which regulates the cellular monophosphate level in fibrous dysplasia and intramuscular myxomas.