What Is Maffucci Syndrome?

Maffucci syndrome, also known as osteochondromatosis, is a rare disorder in which affected patients develop multiple enchondromas, which are benign tumors of the cartilage located near the bones. They additionally develop blood vessel malformations called angiomas or hemangioendotheliomas. The reasons why patients develop this syndrome are unknown, although a gene mutation is thought to be a possible cause. Patients can experience a number of complications from having this disease including bone fractures, stunted growth, and bone cancers.

The reason why patients develop Maffucci syndrome is not well understood. It appears sporadically in the population, and affects men and women alike. Although it is suspected that a gene mutation is the reason why people develop the syndrome, no specific gene has been identified as the cause. Past research initially suggested that mutations in genes involved in the action of the parathyroid hormone (PTH), a substance important in regulating calcium levels in the blood, could cause the symptoms seen with this syndrome. The link between Maffucci syndrome and PTH has not been verified, however.

Symptoms of Maffucci syndrome typically develop early in life. Some of the first signs of having the disease are the growth of enchondromas throughout the body, which are benign tumors made up of cartilage. They are first found in the hands, feet, and in the long bones of the arms. Another important symptom seen in affected patients is the development of hemangioendotheliomas, which are abnormal growths of blood vessels that appear under the surface of the skin. The result is a bluish nodular tumor visible to the naked eye that can distort the appearance of the extremities.

Patients often experience a number of complications as a result of having Maffucci syndrome. The multiple enchondromas that develop early in life can cause skeletal malformations because they restrict the normal growth of the bones. Some patients even develop dwarfism as a result of this inhibited bone growth. As the enchondromas distort the normal structure of the bone, patients are at an increased risk for bone fractures. The enchondromas also have a propensity for developing into malignant tumors such as osteosarcomas or chondrosarcomas, which are often life-threatening.

Treatment for Maffucci syndrome relies on addressing the symptoms caused by the disease, as there is no true cure. Patients should follow up regularly with doctors who specialize in cancers of the bone for screening purposes, due to their high risk of developing this type of malignancy. Additionally, patients should be monitored and treated for any fractures that they develop.

Many patients are misdiagnosed with Ollier disease before receiving the correct diagnosis of Maffucci syndrome. This occurs because patients with both conditions develop multiple enchondromas. In contrast, however, patients with Ollier disease do not develop the abnormal blood vessel growths characteristic of Maffucci syndrome.