Camurati-Engelmann Disease: A Case-Based Review About an Ultrarare Bone Dysplasia.

IF 1.3 Q4 RHEUMATOLOGY European journal of rheumatology Pub Date : 2023-01-01 DOI:10.5152/eurjrheum.2023.21115
Philipp Klemm, Iris Aykara, Uwe Lange
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Abstract

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.

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Camurati-Engelmann病:一例罕见骨发育不良的病例回顾。
Camurati-Engelmann病或进行性骨干发育不良是一种罕见的遗传性疾病,可导致长骨(皮质增厚)和/或颅底对称性骨质增生。Camurati-Engelmann病也与肌病和神经系统症状有关。临床上,Camurati-Engelmann病典型表现为下肢骨痛、肌肉无力和步履蹒跚。这种疾病是由转化生长因子- β 1基因突变引起的。到目前为止,文献中已经描述了大约300例。在这个基于病例的回顾中,我们介绍了一位20岁男性患者的临床表现、遗传和放射学发现,我们诊断为Camurati-Engelmann病,我们在治疗他时的考虑,并将病例与文献进行比较。Camurati-Engelmann病的诊断是通过患者的病史、临床和放射学表现以及转化生长因子β -1突变基因检测来确定的。患者对唑来膦酸单次治疗反应良好。早期诊断可改善临床结果,提高患者的生活质量。
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审稿时长
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