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

## TL;DR

A three-month-old baby with rare symptoms was diagnosed with Pachyonychia Congenita II through genetic testing, emphasizing the need for molecular analysis in such cases.

## Contribution

This paper presents a rare documented case of Pachyonychia Congenita II in an infant without family history.

## Key findings

- A three-month-old boy was diagnosed with PC Type II via a KRT17 gene mutation (c.275A > G).
- The case lacked family history, highlighting the importance of molecular testing for accurate diagnosis.
- Early recognition of PC is challenging due to variable clinical manifestations.

## 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.