Purpose or Case Report: Dysplasia epiphysialis hemimelica (DEH), also known as Trevor’s disease, is a rare developmental bone disease which typically involves the epiphyseal cartilage of the lower extremities. The disease is characterized by abnormal overgrowth which may lead to progressive limb deformity and gait dysfunction. Imaging is crucial in the diagnosis and the appearance maybe confused with other musculoskeletal dysplasias. This exhibit will review the pathogenesis of DEH and highlight the characteristic imaging features using multiple modalities.
Methods & Materials: Representative cases of DEH involving various joints will be presented from our imaging database. Conventional radiographs, ultrasound, CT, and MR images will illustrate the typical imaging features of DEH. Progression and complications of the disease will be highlighted as well as correlation with clinical symptoms and surgical interventions.
Results: The most common presenting symptom associated with DEH is a painless mass or swelling on one side of an affected joint. DEH predominately affects the lower limbs with the knees and ankles being the most common locations. The epiphyseal cartilage overgrowth occurs within the medial or lateral aspect of the bone (hemimelic) with a medial predominance (Figure 1.) DEH may affect a single bone (localized form) or an entire limb (generalized form) which usually involves a leg from the pelvis to the foot (Figure 2). Approximately 2/3 of affected children have multiple foci of disease. The upper extremities are rarely involved. The treatment of DEH depends on the patient’s symptoms and the deformity of the joint. The primary intervention involves surgical removal of the abnormal osteocartilaginous mass.
Conclusions: Multimodality familiarity of dysplasia epiphysealis hemimelica and its pathogenesis are crucial for correct diagnosis and timely treatment.