%0 Case Reports
%T Pachyonychia congenita: A father and son with a novel variant in the KRT16 gene.
%A Tran TNA
%A Vu TTP
%A Pham NN
%A Bui CB
%A Nguyen HT
%J Pediatr Dermatol
%V 0
%N 0
%D 2024 Jul 8
%M 38978313
%F 1.997
%R 10.1111/pde.15701
%X 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.