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揭开肢骨纹状肥大之谜:对临床特征、诊断和治疗的见解。

Unraveling melorheostosis: insights into clinical features, diagnosis, and treatment.

作者信息

Bhattacharyya Timothy

机构信息

Clinical Trials and Outcomes Branch, Intramural Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, United States.

出版信息

JBMR Plus. 2024 Dec 11;9(2):ziae163. doi: 10.1093/jbmrpl/ziae163. eCollection 2025 Feb.

Abstract

Melorheostosis is a rare bone disease characterized by abundant bone formation with a characteristic radiographic appearance that resembles "dripping candle wax." Recent data have shown that the majority of cases are due to somatic activating mutations in bone. Melorheostosis has several clinical and radiographic presentations, which are now known to be caused by different somatic mutations such as , , , and . This review provides a comprehensive look at the clinical features, diagnostic approaches, and current treatment options for melorheostosis, alongside future research directions aimed at improving patient outcomes.

摘要

肢骨纹状肥大是一种罕见的骨病,其特征是大量骨质形成,具有类似“滴蜡”的特征性影像学表现。最近的数据表明,大多数病例是由于骨骼中的体细胞激活突变所致。肢骨纹状肥大有多种临床和影像学表现,现在已知是由不同的体细胞突变引起的,如 、 、 和 。本综述全面介绍了肢骨纹状肥大的临床特征、诊断方法和当前的治疗选择,以及旨在改善患者预后的未来研究方向。

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