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

Tu Nguyen Anh TranThao Thi Phuong VuNguyen Nhat PhamChi-Bao BuiHao Trong Nguyen
Published in: Pediatric dermatology (2024)
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.
Keyphrases
  • genetic diversity
  • copy number
  • genome wide
  • systematic review
  • mitochondrial dna
  • case report
  • dna methylation
  • transcription factor
  • sleep quality