Mazabraud's syndrome: A case report supported by molecular studies and review of the literature.

Abstract

Mazabraud's syndrome represents rare benign disorder characterized by simultaneous occurrence of fibrous dysplasia of bone and intramuscular myxomas within surrounding soft tissue. Mutations of <i>GNAS1</i> gene were proven to be causative for this condition. Here, we present a case report of a patient with unusual manifestation of this disease, who developed a pathological fracture of the femur in the setting of monostotic fibrous dysplasia. The intramuscular myxoma of the thigh was discovered during the following orthopedic operation, where the intraoperative diagnosis became a pitfall of the case, as the intramuscular myxoma was initially diagnosed as a low-grade sarcoma from the frozen section. Apart from clinical findings, the diagnosis of Mazabraud's syndrome was further proven by histopathological evaluation and molecular studies of <i>GNAS1</i> gene. This case raises awareness of such condition as it can easily become a diagnostic pitfall.