Klemm Philipp, Aykara Iris, Lange Uwe
Department of Rheumatology, Immunology, Osteology and Physical Medicine, Campus Kerckhoff, Justus-Liebig-University Gießen, Bad Nauheim, Germany.
Eur J Rheumatol. 2023 Jan;10(1):34-38. doi: 10.5152/eurjrheum.2023.21115.
Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare hereditary disease that results in a symmetrical hyperostosis of the long bones (cortical thickening) and/or the base of the skull. Camurati-Engelmann disease is also associated with myopathy and neurological manifestations. Clinically, Camurati-Engelmann disease typically presents with bone pain in the lower extremities, muscle weakness, and a wobbly, stilted gait. The disease is caused by mutations in the transforming growth factor-beta 1 gene. Up to date, about 300 cases have been described in the literature. In this case-based review, we present the clinical picture and genetic and radiological findings in a 20-yearold male patient we diagnosed with Camurati-Engelmann disease and our considerations in his treatment and compare the case to the literature. The diagnosis of Camurati-Engelmann disease was confirmed on patients' history, clinical and radiological findings, and genetic testing for transforming growth factor beta-1 mutation. The patient responded well to single therapy with zoledronic acid. Early diagnosis leads to improved clinical outcomes and increased quality of life in affected patients.
卡姆拉蒂-恩格尔曼病或进行性骨干发育异常是一种罕见的遗传性疾病，可导致长骨（皮质增厚）和/或颅底出现对称性骨质增生。卡姆拉蒂-恩格尔曼病还与肌病和神经学表现有关。临床上，卡姆拉蒂-恩格尔曼病通常表现为下肢骨痛、肌肉无力以及蹒跚、僵硬的步态。该疾病由转化生长因子-β1基因的突变引起。截至目前，文献中已描述了约300例病例。在本病例报告中，我们呈现了一名被诊断为卡姆拉蒂-恩格尔曼病的20岁男性患者的临床表现、基因和影像学检查结果，以及我们对其治疗的考量，并将该病例与文献进行比较。根据患者病史、临床和影像学检查结果以及转化生长因子-β1突变的基因检测，确诊为卡姆拉蒂-恩格尔曼病。该患者对唑来膦酸单一疗法反应良好。早期诊断可改善受影响患者的临床结局并提高生活质量。
