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Maffucci syndrome

Synonym(s) -
Prevalence Unknown
Inheritance Not applicable
Age of onset Childhood
  • Q78.4
  • C0024454
MeSH -
MedDRA -


Maffucci syndrome is defined as a rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas.

About 250 cases have been reported in the literature so far. Maffucci syndrome affects both males and females, with no ethnic or geographic predilection.

Onset usually occurs by 1-5 years of age. In 25% of cases, the clinical symptoms are present at birth or manifest in the first year of life. The multiple enchondromas in Maffucci syndrome are initially benign enlargements of cartilage that are most often found in the phalanges and long bones but can appear anywhere. They can manifest as a painless swelling of the digits or as a pathologic fracture and can lead to significant deformity. Capillary malformations usually manifest as irregularly-shaped, protruded, dark-blue subcutaneous nodules on the distal extremities, but may also appear at any site. Venous and lymphatic malformations may occur. The skeletal and vascular lesions are usually asymmetrical and may be progressive. Approximately 30-40% of enchondromas develop into chondrosarcomas. The syndrome may be associated with other benign or malignant tumors (goiter, parathyroid adenoma, pituitary adenoma, adrenal tumor, ovarian tumor, breast cancer, or astrocytoma; see these terms).

The etiology of Maffucci syndrome is not completely understood. The disease appears to be associated with mesodermal dysplasia early in life. No familial pattern of inheritance has been identified so far.

Diagnosis is based on clinical and radiographic findings.

Differential diagnosis includes Ollier disease (multiple enchondromatosis not associated with hemangiomas, see this term).

Management aims at relief of symptoms and early detection of malignancies. Treatment is not indicated in asymptomatic patients. Regular examinations by an orthopedic surgeon and dermatologist to evaluate changes in the skin and bone lesions are mandatory.

Patients with Maffucci syndrome usually have anormal life span.

Expert reviewer(s)

  • Pr R.C. [Raoul] HENNEKAM

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