A Newly Documented Rare Case of Pachyonychia Congenita II in a Three‐Month‐Old Baby
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 <i>KRT17</i> 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.
Authors
- Marwa Hallal (ORCID: https://orcid.org/0009-0001-3256-5589)
- Rita Makhoul (ORCID: https://orcid.org/0000-0002-3241-721X)
- Z. Youness (ORCID: https://orcid.org/0009-0005-5832-6024)
Institutions
- Military Hospital (PK)
- Lebanese American University (LB)
- UCLouvain (BE)
Publication Details
- Journal
- Case Reports in Dermatological Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1155/crdm/8876939
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00