What is Maffucci Syndrome

Maffucci Syndrome is a rare non-hereditary disorder characterized by the presence of multiple enchondromas, which are benign cartilage tumors, along with soft tissue hemangiomas, which are abnormal growths of blood vessels. This condition primarily affects the bones and skin. Enchondromas typically develop in the hands and feet, but can also occur in other bones such as the long bones of the arms and legs. The hemangiomas, on the other hand, appear as red or purple raised areas on the skin.

Maffucci Syndrome is usually diagnosed in childhood or early adolescence and can lead to various complications. The enchondromas can cause bone deformities, fractures, and growth disturbances, while the hemangiomas may result in pain, swelling, and functional impairments. Additionally, individuals with Maffucci Syndrome have an increased risk of developing certain types of cancers, particularly in the bones or soft tissues.

Although the exact cause of Maffucci Syndrome is unknown, it is believed to be related to genetic mutations that occur randomly during embryonic development. Treatment options for this condition focus on managing symptoms and may include surgery to remove tumors, radiation therapy, and regular monitoring for potential malignancies. Genetic counseling is also recommended for affected individuals and their families.