Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis

The study investigates the KRT14 gene, which encodes keratin 14, and its variants associated with dermatopathia pigmentosa reticularis (DPR) or Naegeli–Franceschetti–Jadassohn syndrome (NFJS). The research presents a family with three generations affected by DPR, characterized by symptoms such as nail dystrophy, dental issues, and noncicatricial alopecia. Genetic testing confirmed a heterozygous pathogenic variant in KRT14. The study emphasizes the importance of molecular diagnosis for appropriate management and prenatal options.