Maffucci's Syndrome


Maffucci’s syndrome, a rare condition, characterized by enchondromas (benign cartilage tumors), bone deformities and venous malformations. No racial, sexual predilection or familial pattern of inheritance has been shown. Maffucci syndrome usually manifests early in life, usually around the age of 4 or 5 years.  

Enchondromas are benign cartilaginous tumors that can appear anywhere, but they are usually found on the phalanges and the long bones (hands). Other enchondroma sites reported include the foot, the tibia, the fibula, the femur, the humerus, the ribs, and the skull.20-40% of enchondromas can develop into a chondrosarcoma. The average age for neoplastic change is 40 years.  

Venous malformations of this syndrome manifest as blue subcutaneous nodules that are easily compressible. Venous malformations have been reported in various areas of the body, including the leptomeninges, the eyes, the pharynx, the tongue, the trachea, and the intestines. Vascular neoplasms (hemangiosarcomas, lymphangiosarcomas) may develop in small number of patients.

Patients have a good prognosis if no malignant degeneration occurs. Patients usually have a normal life span.

Treatment is not indicated in asymptomatic patients if there is no evidence of any malignant trasformation. Patients need to be followed to evaluate any changes in the skin and bone lesions.

For additional Information:

  • The National Organization for Rare Disorders, Inc (NORD), PO Box 1968, 55 Kenosia Avenue, Danbury, CT 06813-1968, (203) 744-0100 or (800) 999-6673.

  •   The Ollier/Maffucci Self-Help Group, 1824 Millwood Road, Sumter, SC 29150, (803) 775-1757.






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