{Reference Type}: Case Reports
{Title}: Pachyonychia congenita: A father and son with a novel variant in the KRT16 gene.
{Author}: Tran TNA;Vu TTP;Pham NN;Bui CB;Nguyen HT;
{Journal}: Pediatr Dermatol
{Volume}: 0
{Issue}: 0
{Year}: 2024 Jul 8
{Factor}: 1.997
{DOI}: 10.1111/pde.15701
{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.