Mazabraud Syndrome – Typical Radiological Findings of a Rare Disease

Abstract

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. As part of her evaluation at the institution, the patient underwent radiographic and MRI studies of the left hand, which confirmed the pathognomonic features of the known syndrome.
Mazabraud syndrome, a rare condition with fewer than 100 cases reported, is characterized by the association of fibrous dysplasia (typically polyostotic) and intramuscular myxomas. It is linked to genetic mutations and predominantly affects the lower limbs.