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Maffucci Syndrome

Inherited disorder affects skin and skeleton

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Updated April 15, 2006

Maffucci syndrome is a disorder which affects the skin and skeleton, causing benign cartilage tumors, bone deformities, and dark hemangiomas to develop. Despite these symptoms, individuals with Maffucci syndrome usually have a normal life span. Less than 200 cases of Maffucci syndrome have been published in the medical literature, so it is difficult to determine how often the syndrome occurs. The reports show it affects both males and females.

Symptoms
Maffucci syndrome has three main types of symptoms.

  • Venous malformation (hemangioma) – These may be superficial or deep. If in the skin they often protrude as soft bluish bumps (nodules).
  • Benign cartilage tumor (enchondroma) – These may appear anywhere in the body, but are most often found on the hands or feet, or long bones of the arms or legs. The enchondroma may cause the bone to weaken and break (pathologic fracture). About 30% of enchondromas may develop into cancerous tumors (chondrosarcomas).
  • Bone deformities – This may include shortened length of the long bones, resulting in unequal arm or leg lengths. Bones may also break because they are weak, and when they heal, they may not align well (malunion).

Diagnosis
The symptoms of Maffucci syndrome seem to start in childhood, with parents often noticing hemangiomas of the skin in an affected child as early as age 4 or 5 years. The skin and bone growths develop slowly over time. Diagnosis of Maffucci syndrome is based on the symptoms present, since there is no specific laboratory test for the disorder.

Treatment
No medical care is needed for Maffucci syndrome. However, individuals affected by the syndrome need to have regular physical examinations to evaluate changes in the skin and bone lesions. In particular, health care providers should watch for changes that signal the development of a malignant tumor (chondrosarcoma). An orthopedic surgeon will evaluate bone changes and pathologic fractures, and a dermatologist will evaluate skin hemangiomas.

Last updated 4/15/06

Source:
Kuwahara, R. T., & Rasberry, R. (2003). Maffucci syndrome. eMedicine, accessed at http://www.emedicine.com/derm/topic256.htm

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