Maffucci syndrome

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[edit] Discussion of Maffucci syndrome

  • In 25% of cases, the clinical symptoms of Maffucci syndrome are present at birth or manifest in the 1st year of life; in 45% the onset of symptoms is before the age of 6 years, and in 78% the symptoms start before puberty.
  • The skeletal and vascular lesions in the extremities are usually asymmetrically distributed, with unilateral changes seen in about 50% of patients.
  • The most frequent sites of enchondromas are the metacarpals and the phalanges of the hands and less commonly the feet. The skeletal lesions can manifest as painless swelling of a digit or as a pathologic fracture.
  • Literature shows a discrepancy in the rate of malignant transformation of the skeletal lesions in Maffucci syndrome.
    • Varies from 15.2% to 56%.
    • In Ollier disease, the prevalence of malignant transformation of the skeletal lesions is 25%–30%.
    • The number of involved bones appears to have no relationship with the risk of development of a skeletal malignancy in Maffucci syndrome.
    • Chondrosarcoma is the most frequent musculoskeletal malignancy encountered, although malignant transformation of the skeletal lesions to fibrosarcoma and of the vascular lesions to hemangiosarcoma, hemangioendothelioma, or lymphangiosarcoma has been reported as well

  • Management of Maffucci syndrome aims at relief of symptoms and early detection of malignancies.
  • Although the prevalence of malignant change in skeletal lesions in Maffucci syndrome and Ollier disease is quite similar, it is important to differentiate between these two conditions because of the greater risk of developing nonmusculoskeletal malignancies in the former.
  • Skeletal or soft-tissue lesions that enlarge or become painful without antecedent trauma should raise the suspicion of malignancy and need to undergo biopsy.

[edit] Imaging Findings for Maffucci syndrome

  • Radiographs, particularly of the hands and feet, are often pathognomonic in Maffucci syndrome.
  • The radiolucent skeletal lesions are well demarcated and show expansile remodeling of the affected bone with predominant thinning of the cortex and endosteal scalloping.
  • Matrix mineralization in the osseous lesions is frequent and shows the typical arc-and-ring appearance of chondroid lesions.
  • Deformities of the extremities may be caused by interrupted skeletal growth during development.
  • In the soft tissues, phleboliths—which are typical of cavernous hemangiomas—and soft-tissue calcifications may be seen.

[edit] Images

Patient #1: Right femoral enchondroma is a patient with Maffucci syndrome. Please note the Throckmorton's sign

[edit] See Also

[edit] External Links

[edit] References for Maffucci syndrome