Maffucci syndrome

Maffucci Syndrome

Histological image of an enchondroma, a common feature in Maffucci syndrome.

Maffucci syndrome is a rare, non-hereditary disorder characterized by the presence of multiple enchondromas and hemangiomas. It is a type of skeletal dysplasia that primarily affects the bones and skin.

Clinical Features

Maffucci syndrome is typically diagnosed in childhood or early adolescence. The hallmark features of the syndrome include:

• Enchondromas: These are benign cartilaginous tumors that develop within the bones. They are most commonly found in the long bones of the arms and legs, as well as in the hands and feet. Enchondromas can cause bone deformities, fractures, and limb length discrepancies.

• Hemangiomas: These are benign vascular tumors that appear as bluish or purplish lesions on the skin. They can also occur in internal organs.

• Skeletal Deformities: Due to the presence of multiple enchondromas, individuals with Maffucci syndrome may experience bone deformities, such as bowing of the limbs, and an increased risk of fractures.

Pathophysiology

The exact cause of Maffucci syndrome is not well understood, but it is believed to result from somatic mutations that occur after conception. This means that the mutations are not inherited from the parents but occur spontaneously in the affected individual.

Complications

Individuals with Maffucci syndrome have an increased risk of developing chondrosarcoma, a type of cancer that arises from cartilage cells. The risk of malignant transformation of enchondromas into chondrosarcomas is a significant concern in the management of the syndrome.

Diagnosis

Diagnosis of Maffucci syndrome is based on clinical examination and imaging studies. X-rays and MRI scans are used to identify the presence and extent of enchondromas and hemangiomas. A biopsy may be performed to rule out malignancy in suspicious lesions.

Treatment

There is no cure for Maffucci syndrome, and treatment is primarily supportive. Management strategies include:

• Monitoring: Regular follow-up with imaging studies to monitor the growth of enchondromas and hemangiomas.
• Surgical Intervention: Surgery may be necessary to correct bone deformities, stabilize fractures, or remove tumors that are causing symptoms or have a high risk of malignancy.
• Pain Management: Pain associated with bone deformities and fractures can be managed with medications and physical therapy.

Related Pages

• Enchondroma
• Hemangioma
• Chondrosarcoma
• Skeletal dysplasia