家族性 RTEL1 基因突变儿童先天性角化病的非典型表现

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-09-18 DOI:10.1111/pde.15750

Faiza Ahmed,Kristina Blegen,Michelle Tarbox

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引用次数: 0

摘要

先天性角化不良症（DC）是一种罕见的遗传性骨髓疾病，通常表现为口腔白斑、指甲营养不良和网状色素沉着三联征。它最常见的病因是参与端粒稳定性的 DKC1 基因缺陷。口腔白斑恶性发展为鳞状细胞癌（SCC）的病例在 DC 中非常罕见，尤其是在年轻患者中，皮肤 SCC 仅占 DC 病例的 1.5%。在此，我们报告了一例 12 岁女性的家族性杂合子 RTEL1（端粒伸长调节器螺旋酶 1）基因突变病例，该病例伴有以多发性皮肤 SCC 为特征的严重 DC 表型。

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An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation.

Dyskeratosis congenita (DC) is a rare inherited bone marrow disease that classically presents with the triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. It is most commonly caused by a defect in the DKC1 gene involved in telomere stability. Malignant progression of oral leukoplakia to squamous cell carcinoma (SCC) is rare in DC, especially in younger patients, and cutaneous SCC is only reported in 1.5% of cases of DC. Here we report a case of a 12-year-old female with a familial heterozygous RTEL1 (regulator of telomere elongation helicase 1) gene mutation associated with a severe phenotype of DC characterized by multiple cutaneous SCCs.

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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.