Maffucci Syndrome Treatment & Management

Updated: Jun 07, 2017
  • Author: Stephanie Juliet Campbell, DO; Chief Editor: William D James, MD  more...
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Treatment

Approach Considerations

No medical care is needed in Maffucci syndrome patients who are asymptomatic. Patients do need careful follow-up care to evaluate any changes in the skin and bone lesions. The managing physician should arrange the proper consultations for the treatment of the patient.

Management of venous malformations may be more conservative or more aggressive depending on the individual's symptoms and the severity of the lesions. The location of the lesions, number of lesions, recurrences, progression of the lesions, and potential complications all are important factors to consider in treating venous malformations.

Symptomatic patients may benefit from anticoagulation, compression dressings, or sclerotherapy. [13] Some case reports have described antiangiogenic therapies, such as rapamycin injections, in the oncology literature, with varied success. [14, 15]

Nd:Yag laser treatment has also been reported to effectively treat venous malformations [16] and may be efficacious for small, superficial lesions. [17]

Consider surgical excision in patients with symptomatic venous malformations in whom more conservative approaches have failed.

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Consultations

The following consultations may be helpful:

  • Radiologist: Radiography or CT scanning should be periodically performed to evaluate bone changes.

  • Orthopedic surgeon: An orthopedic surgeon should be consulted to evaluate bone changes and skeletal neoplasms and to help in treating fractures associated with this disease.

  • Dermatologist: A dermatologist should be consulted to help evaluate venous malformations associated with this syndrome and to discover any new lesions on the skin.

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Activity

Physical activity is not limited for Maffucci syndrome. Some patients may have difficulty ambulating because of the bone abnormalities.

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Long-Term Monitoring

Regular physical examinations are required in Maffucci syndrome patients to evaluate new or changing skin and bone abnormalities.

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