Maffucci Syndrome

What is Maffucci syndrome?

Maffucci syndrome is a rare disorder that affects your bones and skin. The condition causes:

• Overgrowths of cartilage in your bones (enchondromas).
• Skeletal deformities.
• Tangles of abnormal blood vessels (hemangiomas) visible on your skin.

Cartilage is a firm, flexible type of connective tissue throughout your body that coats the bones in your joints. In a person with Maffucci syndrome, benign tumors made up of cartilage grow in the bones. There are hundreds or thousands of enchondromas, which together can cause severe deformities, short limbs and bone fractures. The overgrowths usually occur in your hands and feet, but also may affect your:

• Arms.
• Legs.
• Ribs.
• Skull.
• Vertebrae (bones of your spine).

The abnormal growths are benign (noncancerous), but may become malignant (cancerous). People with Maffucci syndrome are more likely to develop chondrosarcoma (up to 50% of people with Maffucci syndrome develop chondrosarcoma), a type of bone cancer that starts in cartilage cells. They have a higher chance of developing other cancers as well.

How common is Maffucci syndrome?

Maffucci syndrome is very rare, with several hundred cases reported in the medical literature.

What are the symptoms of Maffucci syndrome?

The signs and symptoms of Maffucci syndrome can vary, ranging from mild to severe. They may be present at birth, but they usually develop during childhood.

The main symptoms of the disorder come from enchondromas, which can lead to:

• Bone pain.
• Bone fractures.
• Bowed arms or legs.
• Bulging bones.
• Curved spine.
• Destruction of bone (osteolysis).
• Short stature (height).
• Uneven arms or legs (one longer than the other).

Symptoms related to hemangiomas may include:

• Blood clots.
• Lymphangiomas, fluid-filled cysts in the vessels that transport lymph throughout your body.
• Red, purple or blue skin growths (hemangiomas), often on your hands, which may harden and get bumpy over time.
• Underdeveloped muscles.

What causes Maffucci syndrome?

Maffucci syndrome is a genetic disorder. It’s caused by a random change (mutation) in one of two genes: IDH1 (more commonly) or IDH2 (less commonly). Researchers think the change occurs before birth. The IDH genes are responsible for making enzymes important to many cell processes in your body. But scientists don’t understand the link between those enzymes and Maffucci syndrome.

The condition isn’t hereditary, so it can’t be inherited (passed down in a family).

How is Maffucci syndrome diagnosed?

A healthcare provider can diagnose Maffucci syndrome with:

• Physical exam to look for visible signs of the disease and discuss history of symptoms.
• X-rays or CT scans to take pictures of your bones.
• Surgery to remove pieces of bone or tissue, which an expert will examine under a microscope.

What kind of doctor treats Maffucci syndrome?

If you have Maffucci syndrome, your healthcare team might include several specialists, such as:

• Dermatologist, who treats skin conditions and can minimize or remove hemangiomas.
• Orthopaedic surgeon, who can treat fractures, correct skeletal deformities and surgically remove enchondromas.
• Orthopaedic oncologist, who can remove chondrosarcoma and watch for signs that the condition has returned throughout your life.
• Radiologist, an expert in medical imaging, such as X-rays and CT scans, who can evaluate changes in bone over time.

How is Maffucci syndrome treated?

There’s no cure for Maffucci syndrome. The goals of treatment are to:

• Detect cancer early for more effective treatment.
• Prevent or treat broken bones.
• Relieve symptoms like pain.

Your healthcare team will order regular medical imaging to monitor your bones. If enchondromas or skeletal issues affect function, treatments may include:

• Braces or surgeries to correct scoliosis (abnormally curved spine).
• Casts, splints and operations to fix broken bones.
• Shoe lifts, medications or surgery to reduce differences in leg length.
• Surgery to fix hand abnormalities.
• Surgical removal of enchondromas.

If hemangiomas are bothersome, a healthcare provider may recommend sclerotherapy. The procedure uses an injectable solution to shrink the lesions. Hemangiomas also can be removed surgically.

How can I prevent Maffucci syndrome?

Scientists don’t fully understand the genetic mutation involved in Maffucci syndrome, so there aren’t any strategies to prevent it.

What’s the outlook for people with Maffucci syndrome?

Maffucci syndrome is a chronic, lifelong condition. Some people with Maffucci syndrome have minor physical issues and very few limitations on activities. But others have serious cases with more severe bone problems and physical limitations.

The condition doesn’t affect intelligence. It can potentially shorten your lifespan if you develop cancer.

How do I take care of myself with Maffucci syndrome?

People with Maffucci syndrome have a higher chance of developing cancer. You should follow your healthcare team’s recommendations for screening. The earlier you detect cancer, the more effective treatment can be.

What’s the difference between Ollier and Maffucci syndrome?

Both Ollier syndrome and Maffucci syndrome are types of enchondroma. But Maffucci syndrome also involves hemangiomas.

Are there other names for Maffucci syndrome?

Less commonly, Maffucci syndrome may also be called:

• Chondrodysplasia with hemangioma.
• Chondroplasia angiomatosis.
• Dyschondroplasia and cavernous hemangioma.
• Dyschondrodysplasia with hemangiomas.
• Enchondromatosis with hemangiomata.
• Enchondromatosis with multiple cavernous hemangiomas.
• Hemangiomatosis chondrodystrophica.
• Hemangiomata with dyschondroplasia.
• Kast syndrome.
• Multiple angiomas and endochondromas.

A note from Cleveland Clinic

Getting a diagnosis of Maffucci syndrome can be difficult whether it’s for you or your child. You’ll need close monitoring throughout your life for broken bones and bone cancer. Making follow-up appointments with multiple specialists can be frustrating. Still, careful screening for bone issues can potentially save or prolong your life if you develop cancer. Catching and treating cancer early is one of the best ways to improve your prognosis. Your provider can tell you what symptoms you should watch out for.