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A young woman with Maffucci syndrome.

A 34-year-old woman without any significant medical family history presented with a tumor that had appeared on her right hand two years previously. She was known to have multiple “hemangiomas” of the phalanges of hands, face, abdominal skin and lower limb since the age of 13 years. Physical examination showed a soft mass on the lower lip with areas of bluish discoloration consistent with venous malformations or phlebectasias (Picture 1) and revealed two hard nodules about two centimetres in diameter with no signs of inflammation on the fourth finger or palm of the right hand. Radiographs showed multiple well-defined, irregularly expanded, radiolucent lesions corresponding to intra-osseous benign cartilaginous tumors or enchondromas, localised in the metacarpi and the first phalange of the fourth right digit (Picture 2). Skeletal radiographs showed two other enchodromas in the right ischiopubic ramus. The diagnosis of Maffucci syndrome was then considered. Maffucci syndrome is a rare clinical entity (about 200 cases have been described in the literature to date) characterized by multiple enchondromas, venous malformations and, less often, lymphangiomas (1, 2). Enchondromas are benign cartilaginous tumors that may develop in any site but are most frequently found in phalanges and long bones. Chondrosarcomatous transformation occurs in approximately 30 to 40% of enchondromas (2). Venous malformations are usually found along soft tissues as bluish nodules, but may also be found in internal organs, particularly in the brain, eyes, and gastrointestinal tract (1). Venous malformations are managed conservatively unless symptomatic, then sclerotherapy and surgery are generally recommended. No treat-