Dysplasia epiphysealis hemimelica of the ankle in children.

Abstract

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare developmental disorder affecting the epiphyses; in young children, it usually involves the knee and ankle joints. DEH was first reported by Mouchet and Belot in 1926,1 who named it tarso megalia. In 1950, Trevor2 used the term tarso-epiphyseal aclasis. Fairbank3 in 1956 coined the term dysplasia epiphyseal hemimelica, the term that remains the common usage name for this unusual condition. The etiology of DEH is unknown. Some authors have theorized that the defect is in the regulation of cartilage proliferation4 or that the disorder may be due to a localized disturbance of the pre–postaxial part of the apical cap of the limb bud in early fetal development.3 It does not appear to be genetically transmitted,5,6,7,8 and no case of malignant transformation has been reported.6,7,8,9,10 The incidence of DEH has been estimated at 1 in 1 000 000.8 It is more common in males (3:1) and white Caucasians, and usually presents in childhood or early adolescence. The most common sites affected are around the knee, usually on the medial side of the tibial or femoral epiphysis, and the ankle, particularly the talus and the medial aspect of the fibular and tibial physis (Fig. 1). The natural history of DEH is that of continual growth of the lesion until skeletal maturity, at which time further enlargement ceases. FIG. 1. Anteroposterior (left radiograph) and lateral (right) views of patient A at 6 years of age, showing the typical medial involvement of the distal tibial epiphysis and medial talus. Note the misshapen contour of the medial part of the ankle. The aim of this study was to examine the effects of DEH on ankle function and development and to recommend a treatment regime for this unusual but disabling condition.