Pachyonychia congenita: A father and son with a novel variant in the <scp>KRT16</scp> gene-Reference-Cited by-同舟云学术

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

Published:2024-07-08 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Tran Tu Nguyen Anh¹^ORCID,Vu Thao Thi Phuong¹^ORCID,Pham Nguyen Nhat¹^ORCID,Bui Chi‐Bao²,Nguyen Hao Trong¹³^ORCID

Affiliation:

1. Ho Chi Minh City Hospital of Dermato‐Venereology Ho Chi Minh City Vietnam

2. School of Medicine, Vietnam National University Ho Chi Minh City Vietnam

3. Pham Ngoc Thach University of Medicine Ho Chi Minh City Vietnam

Abstract

AbstractThis 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.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15701

Reference7 articles.

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4. Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes