Dysplasia epiphysealis hemimelica with bony and soft-tissue abnormalities: a case report and review of the literature

ABSTRACT

We report a case of a 3-year-old boy with dysplasia epiphysealis hemimelica [DEH] who presented with a hard painless swelling on the medial side of his left ankle joint. Plain X-rays, CT and MRI showed a bony tumor and associated soft-tissue abnormalities. At age one year, he had been diagnosed with an osteochondroma and underwent incomplete surgical excision at a local hospital. Due to joint impingement and restricted movement, we chose to completely excise the tumor. Pathologically, the specimen showed evidence of an osteochondroma. From its clinical, imaging, and pathological features and reports in the medical literature, a diagnosis of DEH was established. DEH is a rare variant of osteochondroma, resulting in many patients being incorrectly diagnosed or diagnosed with osteochondroma alone. It is important to low-grade malignant tumor or osteochondroma-like parosteal osteosarcoma from DEH of the talus, especially when accompanied by soft tissue abnormalities. Surgical treatment is mandatory in patients with symptoms such as pain, joint impingement and deformation. Incomplete excision of an articular lesion may lead to recurrence and additional surgery, making it less than complete excision