Ollier's disease

Erich Mussak

University of Illinois Medical Center

enmussak@uic.edu

Martha Saker, MD

Children's Memorial

Keywords

Enchondromatosis, Ollier's, lytic bone lesions, 1656


Publication Date: 2010-10-20

History

8 y/o male, history withheld.

Findings

Multiple expansile lytic lesions in the right iliac wing, right femur, and right second metatarsal. Scalloping and some chondroid matrix (rings and arcs) was present.

Diagnosis

Ollier's disease

DDx

Metachondromatosis; autosomal dominant carpotarsal osteochondromatosis, spondyloenchondromatosis, multiple hereditary exostoses and metastases.

Discussion

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.

References

  1. Kuhn, J.P., Slovis, T.L., Haller, J.O., CAFFEY'S PEDIATRIC DIAGNOSTIC IMAGING, Elsevier, Inc., 2004, 2375.

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