Maffucci syndrome

Case contributed by Yasser Asiri


Hand deformity and skin nodules.

Patient Data

Age: 20 years
Gender: Male

Multiple expansile intramedullary lucent lesions involving multiple metacarpal and phalanges bones in keeping with multiple enchondromas. In addition, there are multiple rounded soft tissue densities seen around the 1st, 2nd, and 5th fingers associated with small rounded calcifications representing phleboliths related to soft tissue hemangiomas. Overall, findings are highly suggestive of Maffucci syndrome. 

Case Discussion

Maffucci syndrome is characterized by the presence of multiple enchondromatosis and associated soft tissue hemangioma. Patients with Maffucci syndrome are at increased risk of malignant degeneration, commonly to chondrosarcoma. 

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