Mazabraud syndrome

Mazabraud syndrome

An extremely rare (55 in the world literature) syndrome characterised by polyostotic fibrous dysplasia with an increased risk of osseous malignant transformation, occurring during growth periods and multiple intramuscular myxomas (adulthood), usually involving the same anatomic region.

Clinical findings
Most cases are asymptomatic; other cases present with pain, skeletal deformities and fractures. It is more common in women (2:1 ratio), presenting in middle age (mean age 46).

DiffDx
Aneurysmal bone cyst, chondrosarcoma, enchondroma, low-grade central osteosarcoma, nonossifying fibroma, osteofibrous dysplasia, simple bone cyst.
References in periodicals archive ?
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.
Carney complex belongs to a spectrum of disease processes that includes McCune-Albright syndrome, Mazabraud syndrome, and multiple endocrine neoplasias.
7) Mazabraud syndrome is a rare syndrome comprising of polyostotic fibrous dysplasia and multiple soft tissue intramuscular myxoma.
Those afflicted with Mazabraud syndrome have intramuscular myxomas associated with the bony lesion.