先天性巨疱症：一对父子的 KRT16 基因出现新型变异。

IF 1.2 4区医学 Q3 DERMATOLOGY Pediatric Dermatology Pub Date : 2024-07-08 DOI:10.1111/pde.15701

Tu Nguyen Anh Tran, Thao Thi Phuong Vu, Nguyen Nhat Pham, Chi-Bao Bui, Hao Trong Nguyen

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引用次数: 0

摘要

本研究强调了识别先天性巨舌症（PC）临床表现的重要性，并强调了遗传模式。一名 12 个月大的男孩出现 "白毛舌"，经过全面评估后被确诊为先天性巨舌症。他的父亲也有类似症状。基因检测发现患者及其父亲均存在 KRT16 致病变异（c.616 T > G），这在 PC 文献中是一个新变异。该病例有助于人们更广泛地了解 PC 的遗传多样性及其临床表现。

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Pachyonychia congenita: A father and son with a novel variant in the KRT16 gene.

This study underscores the significance of identifying the clinical manifestations of pachyonychia congenita (PC) and emphasizes the patterns of genetic inheritance. A 12-month-old boy presented with a "white hairy tongue" and, following a comprehensive evaluation, was diagnosed with PC. His father exhibited similar symptoms. Genetic testing revealed a KRT16 pathogenic variant (c.616 T > G) in both the patient and his father, marking it as a novel variant in the PC literature. This case contributes to a broader understanding of PC's genetic diversity and its clinical presentations.

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.