Maffucci’s Syndrome

Maffucci’s Syndrome: Understanding a Rare Form of Enchondromatosis

Maffucci’s Syndrome is an extremely rare medical condition that combines multiple enchondromas in bones with benign soft tissue tumors called hemangiomas. Enchondromas are benign tumors that arise from cartilage and can appear anywhere in the body, but they tend to occur in long bones such as the bones of the hands and feet. Hemangiomas, on the other hand, are benign tumors that arise from the cells that form blood vessels. The tumors are often visible, appearing as red or purple bumps on or just beneath the skin.

Maffucci’s Syndrome is characterized by the presence of both enchondromas and hemangiomas in the same individual, with enchondromas being more common. This condition can affect both children and adults, and it tends to appear more in the hands and feet. However, it can affect other parts of the body, such as the long bones, pelvis, and skull.

The exact cause of Maffucci’s Syndrome is not well understood, but it is believed to be a genetic condition that is caused by a mutation in a gene that normally suppresses tumor formation. The disease is not inherited, but the gene mutation may arise spontaneously during fetal development.

The symptoms of Maffucci’s Syndrome vary depending on the location and size of the tumors. Most people with the syndrome have multiple enchondromas, which can cause bone deformities, pain, and fractures. The hemangiomas, which are often visible, can cause skin discoloration, swelling, and tenderness. In some cases, hemangiomas near the spine or brain can cause neurological problems.

Maffucci’s Syndrome is a serious medical condition because it has a greater tendency toward malignant transformation than Ollier’s Disease, which is a similar but less severe condition that only involves enchondromas. Malignant transformation occurs when benign tumors become cancerous. People with Maffucci’s Syndrome have an increased risk of developing several types of cancers, including chondrosarcoma, hepatoblastoma, and glioma.

Currently, there is no cure for Maffucci’s Syndrome, and treatment is only necessary in cases where the tumors are aggressive and begin destroying bone tissue. In such cases, surgical removal is recommended. However, surgery is not always feasible or effective, especially when tumors are located in sensitive areas such as the spine or brain. Radiation therapy and chemotherapy may be considered as alternative treatments.

If you or a loved one has been diagnosed with Maffucci’s Syndrome, it is important to seek medical attention from a qualified healthcare provider. Dr Gilbert Huang DPM is a podiatrist who specializes in foot and ankle surgery and can assist patients with foot or hand tumors related to Maffucci’s Syndrome. Dr Huang is highly trained and experienced in diagnosing and treating a wide range of foot and ankle conditions, including rare and complex cases. With his expertise and compassionate care, Dr Huang can help you or your loved one manage the symptoms of Maffucci’s Syndrome and improve your quality of life.


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