Dysplasia Epiphysealis Hemimelica (Trevor’s Disease) in Children, Two New Cases: Diagnosis, Treatment, and Literature Review

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.

Imaging in a case of classic Trevor’s disease

Trevor’s disease, also known as dysplasia epiphysealis hemimelica, is a rare developmental bone dysplasia, characterized by benign osteocartilaginous overgrowth pathologically indistinguishable from osteochondroma. The lesion arises from epiphysis more so on the medial aspect of long bones resulting in painless or painful deformities and limb length discrepancies. Imaging plays an important role in diagnosis as the features are characteristic in an appropriate demographic background. We report a case of Trevor’s disease in a 2-year male with multifocal involvement and characteristic imaging findings.

Juvenile Dysplasia Epiphysealis Hemimelica with Multiple Ankle Free Body

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a rare overgrowth of cartilage that commonly arises in the epiphyseal bone of children. We report a rare case of DEH originating from a talus accompanied by multiple intra-articular free bodies in a 7-year-old patient with ankle instability. After the primary surgery for free body removal and microfracture technique for the cartilage defects in the ankle joint, the free body recurred. Secondary surgery of arthroscopic free body removal with lateral ankle ligament repair succeeded in treating the patient, without further recurrence of the free body.