Dysplasia epiphysealis hemimelica of the lower limb

Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder characterized by osteocartilaginous overgrowth in one or more epiphyses. The disease usually involves a single limb or is hemimelic (lateral or medial compartment), and lower extremities are more frequently affected than upper extremities. Here we present clinical and radiological findings for a male DEH patient at 1.5 and 3.5 years of age. The radiographs obtained at first presentation showed minimal osseous overgrowth and irregularity at the epiphyses around the left knee and ankle joints, respectively. Radiographs obtained at the second presentation showed osteocartilaginous masses at most epiphyses of the left lower extremity. Two months after diagnosis (at 3.7 years old), the patient had surgery on his left knee to relieve increased joint restriction. The histopathological diagnosis was consistent with an osteocartilaginous lesion. This case report presents imaging features and age-related progression of DEH in this patient.