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.
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.
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
have a good prognosis if no malignant degeneration
occurs. Patients usually have a normal life span.
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:
National Organization for Rare Disorders,
Inc (NORD), PO Box 1968, 55 Kenosia Avenue,
Danbury, CT 06813-1968, (203) 744-0100 or
Ollier/Maffucci Self-Help Group, 1824
Millwood Road, Sumter, SC 29150, (803)