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) and Naegeli–Franceschetti–Jadassohn syndrome (NFJS). These conditions, now considered a spectrum of the same disease, are characterized by symptoms such as nail dystrophy, keratoderma, dental issues, and hair abnormalities. The study presents a family with three generations affected by DPR, identifying a heterozygous pathogenic variant in KRT14. The findings emphasize the importance of molecular diagnosis for appropriate management and genetic counseling.