Ollier's Disease: Radiologic Patterns and Malignant Potential in Enchondromatosis

Purpose or Learning Objective: To review the imaging findings of Ollier's disease, a rare nonhereditary skeletal disorder characterized by multiple enchondromas, and highlight its potential for malignant transformation. This case illustrates the radiologic features, clinical presentation, and management of enchondromatosis complicated by chondrosarcoma.

Methods or Background: Ollier's disease is a subtype of enchondromatosis characterized by multiple enchondromas with a unilateral or asymmetric distribution, primarily affecting the long bones, hands, and feet. The disorder is associated with somatic mutations in IDH1 or IDH2 and typically presents in childhood. Although enchondromas are benign, the increased lesion burden in Ollier's disease results in a significantly elevated risk of malignant transformation, with up to 30 to 50% of patients developing chondrosarcoma. Early radiographic recognition and longitudinal monitoring are crucial for diagnosis, risk stratification, and timely intervention.

Results or Findings: We present the case of a 38-year-old man with a history of leg-length discrepancy, scoliosis, and recent persistent left knee pain following mild trauma. Initial radiographs demonstrated multiple expansile lytic lesions with chondroid matrix calcifications involving the left femur and tibia, consistent with enchondromatosis. Magnetic resonance imaging revealed a large lobulated T2 hyperintense lesion with heterogeneous enhancement in the left proximal tibia, raising suspicion for malignant transformation. Subsequent computed tomography confirmed cortical erosion and endosteal scalloping, further supporting a diagnosis of secondary chondrosarcoma. The patient underwent biopsy that confirmed grade II chondrosarcoma arising from preexisting enchondromas. Surgical resection with total knee arthroplasty was performed.

Conclusion: This case highlights the imaging spectrum of Ollier's disease and its potential for malignant transformation. Recognizing early radiographic indicators of chondrosarcoma, such as cortical breakthrough, aggressive periosteal reaction, and soft tissue extension, is essential for prompt diagnosis and management. Long-term surveillance of patients with Ollier's disease is critical for optimizing outcomes and preventing delays in treatment.

Publication History

Article published online:
02 June 2025