Maffucci’s Syndrome

What is Maffucci’s Syndrome?

Maffucci syndrome is an extremely rare congenital condition that affects the bones, skin, joints, and lymphatic system. With this disorder, there are many enchondromas (cartilage overgrowths) found on bones throughout the body, most commonly on hands and feet. Purple-colored growths on the skin called hemangiomas are also common with this disorder and are often the first sign. If you believe you or a loved one are suffering from Maffucci syndrome, it is important to seek out the help of a professional like those at Great Neck Family Foot Care. 

Symptoms and Causes

The symptoms associated with Maffucci syndrome vary between individuals. But some examples of symptoms may include:

  • Skeletal abnormalities (As a result of the multiple enchondromas).
  • Muscle weakening.
  • Limb shortening (Or short stature).
  • Red/Purple bumps on the skin (Resulting from tangled blood vessels called hemangiomas).
  • Bone breakage/deterioration.
  • Blood clots.
  • Bone cancers (Also increased risk of ovarian or liver cancers).
  • Pain (Pain is not a very common result, and if it does occur it is probably a result of too much pressure on nerves, tissue, or bones due to enchondromas. The pain may also be a sign of developing malignant enchondroma).

There are no known underlying causes of Maffucci syndrome. While it does not appear to be a hereditary disease, it is likely caused by gene mutations. Maffucci syndrome is extremely rare, but it is related to the more common Ollier’s Disease.

Treatment

Unfortunately, there is no prevention for Maffucci syndrome since it occurs due to gene mutations. Doctors will diagnose this condition based on the appearance of skin growths or enchondromas, or with the use of CAT scans, MRIs, or X-rays.

 Doctors may treat Maffucci syndrome by addressing the pain associated with it and closely monitoring the changes in bone and skin conditions. If severe bone damage or bone tissue damage occurs, an orthopedic surgeon will likely have to surgically remove the enchondromas. There is almost a 100% chance of Maffucci syndrome patients’ enchondromas becoming cancerous at some point in their life.

Contact Us

The experienced podiatrists at Great Neck Family Foot Care specialize in treating disorders like Maffucci syndrome. For more information regarding Maffucci syndrome or other complicated foot disorders or diseases, visit our extensive educational library. For a potential diagnosis or treatment, call our offices or make an appointment today!