Tran Tu Nguyen Anh, Vu Thao Thi Phuong, Pham Nguyen Nhat, Bui Chi-Bao, Nguyen Hao Trong
Ho Chi Minh City Hospital of Dermato-Venereology, Ho Chi Minh City, Vietnam.
School of Medicine, Vietnam National University, Ho Chi Minh City, Vietnam.
Pediatr Dermatol. 2025 Jan-Feb;42(1):109-111. doi: 10.1111/pde.15701. Epub 2024 Jul 8.
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.
本研究强调了识别先天性厚甲症（PC）临床表现的重要性，并着重指出了其遗传模式。一名12个月大的男孩出现了“白毛舌”，经过全面评估后被诊断为PC。他的父亲也有类似症状。基因检测显示，患者及其父亲均存在KRT16致病变体（c.616 T > G），这在PC相关文献中是一种新变体。该病例有助于更广泛地了解PC的基因多样性及其临床表现。
