Maffucci 症候群

Maffucci syndrome

This 51-year-old man had been diagnosed as having Maffucci syndrome since he was ten-years-old. He underwent curettage of enchondroma and bone graft in the right proximal phalanx of the thumb and right 3rd metatarsal bone, as well as excision of a large hemangioma on the left palm. The asymmetric distribution of enchondroma and hemagioma was apparent, with more hemagiomas on the right hand (Panel A, arrows). X-ray of the hands revealed enchondromas at the left 1st, 3rd, 4th, 5th digits and the right 1st, 2nd, 4th digits (Panel B, arrows), with radiolucent appearance or destruction of the cortex. The right hand showed increases in soft tissue, which were hemangiomas with phleboliths inside (Panel B, arrowheads). Sonography of these hemangiomas also revealed small calcified spots, or surrounding anechoic lesions. Maffucci syndrome is a rare disease of asymmetrically distributed enchondromatosis and multiple hemangiomas. Enchondromas are metaphyseal lesions, leading to expansion and destruction of the cortex. They frequently occur in the long bones of the hands, and pathological fracture could occur with large enchodromas. Maffucci syndrome should be differentiated from Ollier disease, which is characterized by enchondromatosis only, without hemangiomas. The treatment of Maffucci syndrome is based on the symptoms. Close follow-up of the patient is necessary due to the increasing risk of malignancies.