揭示黑色素硬化：洞察临床特征，诊断和治疗。

IF 3.4 Q2 ENDOCRINOLOGY & METABOLISM

JBMR Plus Pub Date : 2024-12-11 eCollection Date: 2025-02-01 DOI:10.1093/jbmrpl/ziae163

Timothy Bhattacharyya

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引用次数: 0

摘要

骨质疏松症是一种罕见的骨病，其特征是骨形成丰富，影像学表现类似于“滴水的蜡烛蜡”。最近的数据表明，大多数病例是由于骨的体细胞激活突变。黑色素瘤有几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MAP2K1、SMAD3、KRAS和LEMD3。本文综述了黑色素瘤的临床特征、诊断方法和当前治疗方案，以及旨在改善患者预后的未来研究方向。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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 MAP2K1, SMAD3, KRAS, and LEMD3. 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.

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