Abstract：
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.
摘要：
这项研究强调了确定先天性白质甲虫（PC）临床表现的重要性，并强调了遗传遗传模式。一个12个月大的男孩露出“白毛舌头”，经过全面评估，被诊断为PC。他的父亲表现出类似的症状。基因检测显示患者和他的父亲都有KRT16致病变异（c.616T>G），将其标记为PC文献中的新颖变体。该病例有助于更广泛地了解PC的遗传多样性及其临床表现。
