Mafucci's Syndrome

Maffucci’s syndrome is a very rare condition characterized by benign tumors of cartilage in the bones (enchondromas), bone deformities, and vascular anomalies (abnormal blood vessels).

Signs and Symptoms

Maffucci’s syndrome can be present at birth although signs and symptoms generally not recognized until early childhood (ages 1-5).

Characteristics may include:

• Skeletal deformities or bulging of the bones
  • Most frequently enchondromas occur in the hands and feet
• Red or purplish growths in skin (abnormal collection of blood vessels)
• Masses made up of an abnormal collection of lymphatic vessels (lymphatic malformations)
• Physical impairments and severity of syndrome vary based on extent of lesions

Diagnosis and tests

Diagnosis and tests may consist of:

• Physical exam
• Imaging
  • Doppler ultrasound
  • Magnetic Resonance Imaging (MRI)
• Genetic testing to look for changes in cells of enchondromas or vascular anomalies
  • Maffuci’s syndrome can be caused by mutations in the IDH1 or IDH2 gene

Treatment

Management of Maffucci’s syndrome involves a multidisciplinary team, which includes plastic surgery, hematology, interventional radiology, and genetics.  Treatment goals include reducing the associated symptoms (like pain and limitation of range of motion).

Care may include:

• Sclerotherapy – a solution is injected into the abnormal vessels to help make them shrink
• Surgical intervention
• Referral to the Musculoskeletal Tumor Team at Texas Children’s Hospital
• Referral to the Cancer Predisposition Team at Texas Children’s Hospital
  • The enchondromas may become cancerous and patients with Maffucci’s syndrome have an increased risk to develop other cancers
     

Authors
Ionela Iacobas, MD
Tara L. Rosenberg, MD