Skeletal Deformity in a Preschool Child: Recognizing Enchondromatosis (Ollier Disease) in a Primary Care Setting

Enchondromatosis is a rare disease which has a risk to transform into secondary chondrosarcoma. This is a 4-year-old girl presented with a one-year progressive history of her right ankle joint deformity. Plain radiograph showed bone lesion over right distal fibula. Magnetic resonance imaging suggested features of enchondroma with multiplicity lesions. Skeletal survey showed multiple enchondromas over right distal ulnar, proximal femur, pelvis and both proximal fibulas and feet. She was planned for corrective osteotomy to prevent further progression of the deformity. She has regular follow-up under paediatric orthopaedic team and primary care physician for long term monitoring and overall health care. This case demonstrates the importance of recognizing the features of non-malignant bone tumour clinically and radiologically for early detection and referral. Long term follow-up and monitoring is necessary due to the risk of malignant transformation in enchondromatosis.