Maffucci Syndrome
Maffucci syndrome is a rare disorder that affects the bones, skin and blood vessels. The abnormal growths may become cancerous over time. These individuals are also prone to cancer in other parts of the body. Signs of the syndrome may not be evident at birth, but typically manifest by the age of 5. It is not an inherited condition.
Characteristics of the syndrome include:
- Multifocal hemangiomas
- Osteolysis
- Coagulopathies-specifically venous clotting
In most cases of Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene.
Diagnosis:
You/your child will meet with the Vascular Anomalies Center team during the initial clinic visit for a comprehensive review of the patient’s medical history, any imaging studies and/or laboratory tests that have been performed, and a complete physical examination. The medical specialists will then confer and diagnose the condition and propose a treatment plan. Diagnosis is primarily based on:
- Clinical features
- Plain radiograph
- Genetic testing
Treatment:
There is no cure for Maffucci syndrome. Management focuses on relieving symptoms and early detection of malignancies. Patients with Maffucci syndrome need to be followed closely by the following specialists:
- Radiologists
- Orthopedic surgeons
- Dermatologists
- Oncologists
