What is Maffucci syndrome?

Maffucci syndrome, also known as osteochondromatosis, is a rare disorder in which patients involve more enchondromes, which are benign cartilage tumors located near bones. In addition, they develop malformations of blood vessels called angiomas or hemangioendotheliomas. The reasons why patients develop this syndrome are not known, although the gene mutation is considered to be a possible cause. Patients may experience a number of complications from this disease, including bone fractures, stunted growth and bone cancer. It looks sporadically in the population and affects both men and women. Although it is assumed that the gene mutation is the reason why people develop syndrome, no specific gene has been identified as a cause. Past research initially indicated that mutations in genes involved in the action of the hormone of the body (PTH), substances important in regulatinuguguggeum of calcium levels in the blood could cause symptoms observed in this syndrome. However, the connection between Maffucci and PTH syndrome was not verified.

The symptoms of Maffucci syndrome usually develop at the beginning of their lives. Some of the first symptoms of the disease are the growth of enchondromes throughout the body, which are benign tumors formed by cartilage. First, they are in the hands, legs and long bones of the arms. Another important symptom that has been observed in the affected patients is the development of hemandotheliomas, which are abnormal growth of blood vessels that occur under the skin surface. The result is a bluish nodular tumor visible to the naked eye that can distort the appearance of the limbs.

patients often experience a number of complications as a result of Maffucci syndrome. Multiple enchondromes that develop early in life can cause skeletal malformations because they limit the normal bone growth. Some patients even develop a dwarf as a result of this inhibition of bone growth. As enchondromes distort the normal bone structure, patients are exposed to an increased risk of bone fractures.Enchondromes also tend to develop in malignant tumors such as osteosarcomas or chondrosarcomas that often threaten life.

MAFFUCCI syndrome treatment relies on the solution of symptoms caused by diseases because there is no real medicine. Patients should regularly track with doctors who specialize in bone cancer for screening purposes because of their high risk of developing this type of malignancy. In addition, patients should be monitored and treated for any fractures that develop.

Many patients are incorrectly diagnosed with disease disease before receiving the correct diagnosis of Maffucci syndrome. This happens because patients with both conditions develop multille enchondromas. On the other hand, patients with Ollier disease do not develop abnormal blood vessel growth characteristic of Maffucci syndrome.