Ollier’s Disease (Multiple Enchondromatosis)

Background

• Inborn error of osseous development with respect to endochondral ossification
• Lesions generally involve metaphysis and diaphysis
• Often a predominant unilateral distribution
• No hereditary or familial tendency

Clinical

• Presentation: Knobby swellings of the digits or gross discrepancy of length and axial alignment of extremities
• Frequently diagnosed in childhood and adolescence.
• M:F = 1:1
• Lesion affecting growth plate causes angular and rotational deformities and foreshortening of limbs

Imaging

• Plain films demonstrate features of multiple enchondromatosis
• Often expansion of overlying cortex
• Lesions innocuous in infancy and early childhood; become more clinically worrisome with skeletal growth, causing deformity and growth disturbance
• Development of destructive bony changes and soft tissue mass with pain suggest malignant transformation
• Malignant changes may present simultaneously in several lesions with differing levels of activity

Pathology

Histologically, lesions similar to solitary enchondroma, but may be more cellular

Complications

• Risk of malignant degeneration to chondrosarcoma difficult to state with confidence; rare disease with no good longitudinal studies of patients at risk
  • However, risk of developing malignancy may be as high as 25% over the patient’s lifetime
• The most common malignant transformation is to low- or medium-grade chondrosarcoma