Dysplasia epiphysealis hemimelica of the lower limb

Abstract

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.

Asymptomatic Dysplasia Epiphysealis Hemimelica of the Shoulder in a Skeletally Mature Patient with Normal Function

“…Maturation of a DEH lesion leads to a large asymmetric overgrowth of the epiphyseal cartilage and can restrict joint motion and produce mechanical pain [1, 6–8]. The location of the lesion determines both symptoms severity and decision-making [1, 2, 7].…”

“…Although benign, DEH can have cosmetic and functional manifestations, such as clinical deformities or masses, inability to wear certain shoes, and mechanical articular impairment [1, 7, 8]. In general, intra-articular lesions tend to present more painful manifestations [2].…”

“…Imaging findings are often so characteristic that a biopsy can be averted because of the highly characteristic nature of imaging features, although it may be helpful in unusual cases, such as when the upper limbs are involved [9]. Until today, most published papers have been concerned with case reports or small case series confined to the lower limbs, mainly in skeletally immature patients [7, 8, 10, 11]. Few cases involve the upper extremity and even fewer the shoulder girdle [12–14].…”

Arthroscopic treatment of intra-articular dysplasia epiphysealis hemimelica of the knee

“…DEH is a rare developmental disorder characterized by asymmetrical epiphyseal osteochondral overgrowth. 3 The etiology remains unclear, but it may be caused by a congenital defect affecting the early stages of limb development during the fetal life or by abnormal proliferation of chondrocytes. 5 DEH is also considered to be a non-hereditary disorder, and malignant transformation has not been reported.…”

“… 1 , 2 The clinical presentation of DEH is wide and variable, depending on the location of the lesion, and varies from asymptomatic to mechanical symptoms such as restricted joint movement and skeletal deformity. 3 …”