Taylor Adam J, Runner Robert P, Longjohn Donald B, Najibi Soheil
Department of Orthopaedic Surgery, Rancho Los Amigos National Rehabilitation Center, Downey, CA, USA.
Department of Orthopaedic Surgery, Keck Medical School of University of Southern California, Los Angeles, CA, USA.
Arthroplast Today. 2021 Apr 14;8:204-210. doi: 10.1016/j.artd.2021.03.011. eCollection 2021 Apr.
Camurati-Engelmann disease (CED) is an extremely rare, sclerosing bone disorder of intramedullary ossification with only 300 reported cases worldwide. The pathogenesis is related to activating mutations in transforming growth factor beta 1, which results in bilateral, symmetric hyperostosis affecting primarily the diaphysis of long bones. Despite effective pharmacological treatment options, the diagnosis of CED is problematic owning to its rarity and variability of clinical presentation. We present a patient with known CED with advanced early hip osteoarthritis, secondary to underlying hip dysplasia, for which she underwent a successful total hip arthroplasty via a direct anterior approach with the use of bulk femoral head autograft to reconstruct her native acetabulum.
卡穆拉蒂-恩格尔曼病（CED）是一种极其罕见的骨髓内骨化性硬化性骨病，全球仅报告了300例病例。其发病机制与转化生长因子β1的激活突变有关，这会导致双侧对称性骨质增生，主要影响长骨骨干。尽管有有效的药物治疗选择，但由于CED罕见且临床表现多样，其诊断存在问题。我们报告了一名已知患有CED且伴有晚期早期髋骨关节炎的患者，该关节炎继发于潜在的髋关节发育不良，为此她通过直接前路入路成功进行了全髋关节置换术，并使用大块股骨头自体骨移植来重建其原生髋臼。
