Ionescu Adelina, Popescu Bogdan, Neagu Oana, Carp Madalina, Tevanov Iulia, Balanescu Laura, Balanescu Radu Ninel
Department of Pediatric Orthopedic Surgery, "Grigore Alexandrescu" Clinical Emergency Hospital for Children, 011743 Bucharest, Romania.
Department of Pathology, "Grigore Alexandrescu" Clinical Emergency Hospital for Children, 011743 Bucharest, Romania.
Children (Basel). 2021 Oct 12;8(10):907. doi: 10.3390/children8100907.
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.
骨骺半侧发育异常（DEH），也称为特雷弗氏病，是一种罕见的非遗传性骨骼疾病，影响骨骺或骨骺等效物的一侧。由于临床特征不具特异性，该病常被误诊为创伤性损伤、感染或其他肿瘤。诊断主要基于显示过度生长的骨骺一侧的影像学表现；在大体组织病理学检查中，很难区分DEH和骨软骨瘤。针对EXT1和EXT2基因表达，几乎没有免疫组化标志物以及基因检测方法能够揭示更准确的诊断。目前尚无恶变证据报道，也没有遗传传递或环境因素被认定为病因。该病的自然病程是病变持续生长直至骨骼成熟。若不治疗，关节可能会发生退行性改变，患者可能会患上早发性骨关节炎。在本文中，我们报告了两例踝关节DEH的新病例。本文的目的是在遇到小儿患者骨骺处的肿瘤性肿块时考虑特雷弗氏病，并介绍我们的治疗方法及结果。
