Progressief beenlengteverschil door multipele enchondromatose

Background

Ollier’s disease (multiple enchondromatosis) is a rare non-hereditary condition characterised by the occurrence of multiple enchondromas, usually unilateral and asymmetrically distributed in the metaphyseal regions of the long bones and in the phalanges of the hand and foot.

Case description

A 10-year-old girl visited our outpatients’ department with growth retardation of the left leg. Radiographic examination showed reduced growth and deformities in the femur and tibia, confirmed by MRI and bone scan. Since the aetiology of the deformities was not clear, we consulted the Netherlands Committee on Bone Tumours who diagnosed Ollier’s disease (multiple enchondromatosis).

Conclusion

The pathogenesis of Ollier’s disease possibly involves abnormalities in the signalling pathways controlling the differentiation of chondrocytes. Treatment is surgical and may consist of curettage and grafting of lesions, osteotomy, or Ilizarov fixation to correct deformities and length difference. Patients have a 5-50% risk of malignant transformation to chondrosarcoma, necessitating lifelong follow-up.

Conflict of interest: none declared. Financial support: none declared.