Enchondromatosis – Maffucci Syndrome

  • Etiology: Tumor of cartilage rests deposited in medullary cavity as growth plate moves away from diaphysis
  • Imaging:
    — Multiple enchondromas along with hemangiomas or lymphangiomas
    — Asymmetric involvement
  • DDX:
  • Complications:
    — Malignant transformation to chondrofibrosarcoma in 30% of patients which usually occurs after they reach skeletal maturity
    — Associated with central nervous system or ovarian or pancreatic malignancy
  • Treatment:
  • Clinical:

Radiology Cases of Enchondromatosis – Maffucci Syndrome

Radiograph of multiple enchondromas of the hand in Maffucci syndrome
AP (left) and oblique (right) radiographs of the hand show, in the second / third / fourth phalanges, multiple metaphyseal lesions that are lytic with a narrow zone of transition and no periosteal reaction.