Maffucci

Maffucci syndrome is a rare, non-hereditary disorder characterized by the presence of multiple enchondromas - benign (non-cancerous) growths of cartilage that develop within the bones. This condition is also associated with the development of hemangiomas - benign blood vessel growths, often in the skin.

Signs and Symptoms

The enchondromas in Maffucci syndrome typically develop in the small bones of the hands and feet, although they can also occur in the long bones of the arms and legs or in the skull. These growths can cause skeletal deformities, short stature, and an increased risk of bone fractures. Hemangiomas associated with Maffucci syndrome are often visible as purplish growths on the skin. They can also occur in the bones, muscles, or internal organs.

Causes

Maffucci syndrome is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making an enzyme called isocitrate dehydrogenase, which plays a role in cellular energy production. The mutations that cause Maffucci syndrome result in a version of the enzyme that can convert a molecule called alpha-ketoglutarate to another molecule called 2-hydroxyglutarate. This abnormal activity can disrupt the normal development of cartilage and blood vessels, leading to the characteristic features of Maffucci syndrome.

Diagnosis

The diagnosis of Maffucci syndrome is based on the clinical findings of multiple enchondromas and hemangiomas. Genetic testing can confirm the diagnosis by identifying a mutation in the IDH1 or IDH2 gene.

Treatment

There is currently no cure for Maffucci syndrome. Treatment is focused on managing the symptoms and preventing complications. This may include surgery to correct bone deformities or to remove enchondromas that are causing pain or other problems. Regular monitoring is recommended to detect any changes in the enchondromas that could indicate a transformation to a cancerous tumor.

See Also

• Enchondroma
• Hemangioma
• IDH1
• IDH2

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