一名 TERT 变异相关端粒生物学紊乱患者的网状色素变化和特里氏指甲。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-09-03 DOI:10.1111/pde.15735

Sasan D Noveir, Jayden Galamgam, Deeti Pithadia, Amanda Truong, Marcia Hogeling, Carol E Cheng

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引用次数: 0

摘要

端粒生物学疾病（TBD）是一组以端粒短小为特征的复杂遗传性疾病。先天性角化不良症（DC）目前被认为是一种严重的 TBD 表型，其特征是网状色素性改变、指甲营养不良、口腔白斑病前期恶变和全身受累。本病例描述了一名患有网状色素性变化和特里氏指甲的 2 岁女性，她被发现患有 TERT 变异和端粒短；她没有 TBD 的其他粘膜和全身特征。本报告描述了 TBD 的一种独特临床表现，并强调了在典型 DC 特征有限或不明显的个体中坚持怀疑 TBD 的重要性。

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Reticulated pigmentary changes and Terry's nails in a patient with a TERT variant-associated telomere biology disorder.

Telomere biology disorders (TBD) are a complex set of inherited illnesses characterized by short telomeres. Dyskeratosis congenita (DC), which is now considered a severe TBD phenotype, is characterized by reticulated pigmentary changes, nail dystrophy, premalignant oral leukoplakia, and systemic involvement. This case describes a 2-year-old female with reticulated pigmentary changes and Terry's nails who was found to have a TERT variant and short telomeres; she lacked other mucocutaneous and systemic features of TBD. This report describes a unique clinical presentation of TBD and highlights the importance of upholding suspicion for TBD in individuals with limited or subtle features of classic DC.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.