Maffucci syndrome with multiple soft-tissue hemangiomas: A rare case report

Abstract

Maffucci syndrome, a congenital mesodermal dysplasia, characterized by multiple enchondromas and hemangiomas was first described in 1881, and 200 cases have been reported in the literature since then. Here, we report the case of a 30-year-old male who presented with multiple soft, compressible swellings present on the back and right feet for 15 years and swelling of the right knee joint with difficulty in walking for 2 years. Roentgenogram of the right foot and hand showed multiple, small radiolucent (osteolytic lesions) areas at 1st metatarsal, distal phalanges, cuneiforms, talus bones, and 1st metacarpal bone suggestive of enchondromas. Doppler study showed venous malformation. Computed tomography (CT) scan of the right lower limb extending up to mid abdomen was suggestive of Maffucci syndrome with soft-tissue hemangioma and intraosseous enchondromas in the tibia and femur. This case is being reported for its rarity. These patients have a possibility of malignant transformation in about 30% of cases thus requiring early detection and management if required.