An extremely rare disorder affecting bones

What is Maffucci Syndrome?

Maffucci Syndrome is a very rare disorder that affects the bones and skin primarily in hands and feet. It was first diagnosed in 1881 and since then there have been fewer than 200 cases seen in the world. With this condition, non-cancerous growths of cartilage grow on the bone. These growths, called enchondromas, develop near the ends of bones and usually result in bone deformities, fractures and shortening of limbs.

What causes Maffucci Syndrome to be distinguished from other similar conditions are that the enchondromas can be accompanied by red or purplish growths on the skin as well. These are hemangiomas, which are tangles of abnormal blood vessels. The growths associated with Maffucci Syndrome can become cancerous, with patients being especially at risk for bone, ovarian and liver cancer.

This condition is believed to develop before birth when abnormalities occur with embryonic cell development. While Maffucci Syndrome is not an inherited condition, it is believed to be present at birth with symptoms typically starting to become present around the age of five years old. There is no one particular person at higher risk than another. It can occur in all ethnic groups and males and females alike.

Symptoms of Maffucci Syndrome

A child with Maffucci Syndrome may have any one or more of the following symptoms:

  • Unexplained factures or bones that fracture easily
  • Veins under the skin that look clumped together or have a worm-like appearance
  • Shortened length of the bones in the arms and legs
  • Dilated veins, which appear as bluish growths on the skin
  • Scoliosis
  • Short stature
  • Unequal arm or leg bone length
  • Hard nodules on arms, hands, fingers, toes and legs

Treatment Options for Maffucci Syndrome

Dr. Danciger would first order an X-ray or CT scan to confirm a diagnosis of Maffucci Syndrome. If confirmed, there is unfortunately no known cure for the condition. The outlook and prognosis is generally good, with regular care to monitor changes in the skin, bone, cartilage and blood vessels. There is though, a risk for the growths of cartilage to become cancerous later in adulthood. It is estimated that this occurs in approximately 30% of patients who have Maffucci Syndrome. It is when growths or lesions continue to grow once the child is grown or become painful that the chance of it becoming cancerous is likely. Treatment focuses on relieving symptoms and regular X-rays to monitor any changes to the growths that may be becoming malignant.

This condition tends to progress quite slowly throughout the first ten to twenty years and slows down and even stops during the third decade. Many children have a very normal life span and are able to participate in normal life activities. 

For additional information, or to schedule an appointment with Coachella Valley Podiatrist, Dr. Danciger, call our office at (760) 568 - 0108 or request an appointment online.

Dr. Harvey Danciger
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Dr. Harvey Danciger is a podiatrist and foot surgeon in Palm Desert, CA specializing in the foot and ankle