Mazabraud Syndrome

Typical Radiological Findings of a Rare Disease

Résumé

We present the case of a 52-year-old female patient with a known diagnosis of Mazabraud syndrome, involving the lower limbs and a history of total right hip replacement. She was referred to the Hospital das Clínicas in São Paulo, Brazil, after developing a non-painful swelling in the second left intermetacarpal space and diffuse hand oedema, with a one-year progression.

Mazabraud syndrome, a rare condition with fewer than 100 cases reported, is characterised by the association of fibrous dysplasia (typically polyostotic) and intramuscular myxomas. It is linked to genetic mutations and predominantly affects the lower limbs.