9. A case report of mazabraud's syndrome and literature review

Abstract

Background Mazabraud's syndrome is rare and has characteristic radiological and histopathological findings. Within radiological circles the appearance is such a common radiology registrar trap that it is considered a ‘spotter’ amongst practicing radiologists. The pathological appearance of fibrous dysplasia and intramuscular myxomas are individually characteristic however the differing natural history and management means that the connection between both entities may not be apparent on histopathology alone. Clinicoradiological findings A 43 year old man presented with a 2 month history of a tender mass below the inguinal ligament. An ultrasound of the right thigh found a 4.4 cm solid intramuscular tumour which was subsequently imaged with X-ray and MRI and showed typical features of polyostotic fibrous dysplasia involving the pelvis and proximal femur with a Shepherd's crook deformity and multiple soft tissue masses with features of intramuscular myxomas and the diagnosis of Mazabraud's syndrome was given. Six years after the initial diagnosis the patient presented after a fall with a pathological subtrochanteric femoral fracture. A total hip replacement was performed and one intramuscular lesion was sampled. Pathological findings The femoral neck was deformed and the medulla was cystically expanded by blood and fragments of pale grey fibrous tissue which had ‘Chinese character’ shaped metaplastic trabeculae on morphology. The myxoid lesion was surrounded by a thin rim of incomplete skeletal muscle and had a gelatinous grey surface which was hypocellular and hypovascular microscopically confirming the presence of fibrous dysplasia and intramuscular myxoma and thus the diagnosis of Mazabraud's syndrome. Conclusion The combination of fibrous dysplasia and intramuscular myxoma is characteristic of Mazabraud's syndrome.