Publication Date: 2010-10-20
8 y/o male, history withheld.
The syndromes of multiple enchondromas or enchondromatosis are known as Ollier's disease or Maffucci syndrome. If the enchondromatosis is associated with soft tissue hemangiomas, the disorder is called Maffucci syndrome. Enchondromatosis is a rare, nonheriditary disorder. Enchondromatosis is marked clinically by asymmetric leg shortening. The changes are frequently asymmetric but rarely unilateral. These lesions are more difficult to diagnose in younger individuals. The enchondromas seen in Ollier's disease are expansile, trabeculated or lucent lesions that often have a thin cortex shell.
Presenting signs include limb length discrepancies, palpable masses, and genu varum or genu valgum deformities. Most commonly affected bones are short tubular bones of hands and feet, and long tubular bones of tibia and fibula. Patient's are typically asymptomatic. Pain, not explained by pathological fracture or injury, should raise concern for conversion to chondrosarcoma.
Plain radiographs are considered the first line in diagnosis of suspected enchondromatosis. Radiographs can also be used to evaluate for fractures, caused by the thin shell of bone created by enchondromas.
- Kuhn, J.P., Slovis, T.L., Haller, J.O., CAFFEY'S PEDIATRIC DIAGNOSTIC IMAGING, Elsevier, Inc., 2004, 2375.