Maffucci Syndrome

First reported in 1881, Maffucci Syndrome has been reported less than 200 times since. The condition combines multiple enchondromas (en-kon-DRO-mas: non-cancerous tumours of the cartilage), and appears during childhood and puberty. It typically affects the extremities such as the hands and feet, though it can also affect the skull, ribs, and vertebrae.

Symptoms of Maffuci Syndrome include red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). Affected individuals occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body, and may become cancerous (malignant). Affected individuals may also develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer.

People with this disorder usually have a normal lifespan, and treatment is only necessary in cases where the tumours are aggressive and begin destroying bone tissue. In these cases, surgical removal is recommended.