Description:

Maffucci syndrome is an exceptionally rare disorder characterized by the presence of benign cartilage growths known as enchondromas, skeletal deformities, and skin lesions.

Symptoms:

Maffucci syndrome is typically not evident at birth and tends to manifest during early childhood, generally between the ages of one and five. The severity of complications varies among patients.

Fractures: Patients initially experience fractures due to the distortion and weakening of bones affected by enchondromas, particularly in the long bones.

Skeletal Deformities: Cartilaginous tumors cause bone protrusions, curvature of the arms and legs, and often uneven limb growth. Approximately 40% of patients exhibit these manifestations on one side of the body.

Skin Lesions: Vascular lesions on the skin typically develop around the age of 4-5, most commonly in the hands. These lesions may not necessarily coincide with the location of enchondromas. They initially appear as small bluish spots, progressing gradually to become firm, knotty, and often containing calcium deposits (phleboliths).

Cancer Risk: In an estimated 15-40% of Maffucci syndrome cases, the benign tumors may undergo malignant transformation, particularly leading to chondrosarcoma, a malignant cartilage tumor.

Causes & Prevalence:

Maffucci syndrome is attributed to mutations in the IDH1 and IDH2 genes, which are also associated with the related condition, Ollier disease. However, as these mutations occur after fertilization, the disorder is not considered hereditary and is categorized as a somatic mutation. Maffucci syndrome affects individuals of all ethnic backgrounds and genders equally. It is an exceedingly rare condition, with an estimated 200 reported cases to date.

Diagnosis:

Diagnosing Maffucci syndrome involves a comprehensive evaluation, including a detailed medical history, thorough physical examination, and radiological assessment. Surgical removal of skeletal lesions is often necessary, and microscopic examination confirms the presence of enchondromas while distinguishing them from chondrosarcoma.

Treatment:

Treatment options for Maffucci syndrome include:

• Vascular Lesions: Vascular lesions can be treated with sclerosing agents to reduce their size and hardness, with surgical removal considered if required.
  
• Skeletal Abnormalities: Hand surgeons can address skeletal abnormalities in patients who experience frequent fractures or impaired hand function. Orthopedic surgeons typically manage leg length discrepancies, abnormal spine curvatures, and other skeletal irregularities.
  
• Recent Advancements: The US Food and Drug Administration has recently approved Ivosidenib, an IDH1 inhibitor, for the treatment of cancer patients. Discussions regarding potential applications of this treatment in Maffucci syndrome and Ollier disease are ongoing.