Abstract
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a rare nonhereditary skeletal disorder affecting one side of the epiphyses or the epiphyses-equivalents. It is often misdiagnosed for traumatic injuries, infections, or other tumors because of the nonspecific clinical features. The diagnosis is mostly based on radiographic involvement of one half of the epiphysis displaying an overgrowth; it is hard to distinguish between DEH and osteochondroma on the gross hystopathological exam. There are few immunohistochemical markers, as well as genetic tests, for EXT1 and EXT2 gene expression that can reveal a more accurate diagnosis. No evidence of malignant changes has been reported and no hereditary transmission or environmental factor has been incriminated as an etiological factor. The natural history of the disease is continuous growth of the lesions until skeletal maturity. Without treatment, the joint might suffer degenerative modification, and the patient can develop early onset osteoarthritis. In the present paper, we report two new cases of DEH of the ankle. The aim of this paper is to consider Trevor’s disease when encountering tumoral masses in the epiphyses of pediatric patients and to present our treatment approach and results.
Highlights
Trevor’s disease or dysplasia epiphisealis hemimelica (DEH) is a disorder which implies epiphyseal overgrowth
Bone et al demonstrated that exostosis genes (EXT1 and EXT2) are mutated in 90% of patients suffering from multiple hereditary exostoses but never in patients with DEH [27,28]
Genetical, morphological, and immunohistochemical differences stand between osteochondroma and DEH
Summary
Trevor’s disease or dysplasia epiphisealis hemimelica (DEH) is a disorder which implies epiphyseal overgrowth. The Greek origin of the name of the disease reveals the pattern of affecting only one half of the epiphyses from the word “hemi” meaning half and “melos” meaning limb. Most frequently it involves the knee, talus, navicular, and the first cuneiform bone [1]. The medial side of the joint, compared to the lateral side has a 2:1 incidence [2] It was first described in 1926 by Mouchet and Berlot as “tarsomegaly” in a case of an 18-month-old boy [3]. One case was discovered by Ingelrans and Lacheretz in 1953 who described it as “chondrodystrophie epiphysaire” of the medial side of the lower limb in a one year and 6-month-old boy [6]. One or two papers per year have been written on this topic
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