Maffucci syndrome is a rare disease causing multiple benign cartilage tumors and abnormal blood vessel growths. Its cause is unknown, but a genetic mutation is suspected. Patients may experience complications such as bone fractures and tumors. Treatment focuses on managing symptoms and monitoring for malignancies.
Maffucci syndrome, also known as osteochondromatosis, is a rare disease in which affected patients develop multiple enchondromas, which are benign cartilage tumors located near the bones. They also develop blood vessel malformations called angiomas or hemangioendotheliomas. The reasons patients develop this syndrome are unknown, although a genetic mutation is thought to be a possible cause. Patients can experience a number of complications resulting from this disease including bone fractures, stunted growth and bone tumors.
Why patients develop Maffucci syndrome is not well understood. It appears sporadically in the population and affects men and women equally. Although a genetic mutation is suspected to be the reason people develop the syndrome, no specific gene has been identified as a cause. Past research initially suggested that mutations in genes involved in the action of parathyroid hormone (PTH), a substance important in regulating blood calcium levels, could cause the symptoms seen with this syndrome. However, the link between Maffucci syndrome and PTH has not been verified.
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 found first in the hands, feet, and 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 skin’s surface. The result is a bluish nodular tumor visible to the naked eye that can distort the appearance of the extremities.
Patients often experience a variety of complications due to Maffucci syndrome. Multiple enchondromas that develop early in life can cause skeletal malformations because they limit normal bone growth. Some patients even develop dwarfism due to this inhibited bone growth. Because enchondromas distort the normal structure of bone, patients are at increased risk of bone fractures. Enchondromas also have a propensity to develop into malignancies such as osteosarcomas or chondrosarcomas, which are often life-threatening.
Treatment for Maffucci syndrome is based on addressing the symptoms caused by the disease, as there is no real cure. Patients should regularly see bone cancer doctors for screening purposes, due to their high risk of developing this type of malignancy. Additionally, patients should be monitored and treated for any fractures they develop.
Many patients are misdiagnosed with Ollier’s disease before receiving the correct diagnosis of Maffucci syndrome. This occurs because patients with both conditions develop more enchondromas. In contrast, however, patients with Ollier disease do not develop the abnormal blood vessel growth characteristic of Maffucci syndrome.
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