A Newly Documented Rare Case of Pachyonychia Congenita II in a Three-Month-Old Baby.

Abstract

We report the case of a three-month-old boy presenting with dystrophic nails, hyperhidrosis, congenital natal teeth, and milia-like lesions on the nose, without a family history of pachyonychia congenita (PC). Genetic testing confirmed a heterozygous pathogenic mutation (c.275A > G) in the KRT17 gene, establishing the diagnosis of PC Type II. PC is a rare genetic disorder affecting keratinization, with variable clinical manifestations that can complicate early recognition. This case highlights the importance of molecular testing and dermatologic expertise in diagnosing and managing PC.