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.

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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
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article

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

Marwa Hallal, Rita Makhoul, Z. Youness
Case Reports in Dermatological Medicine
Skin and Cellular Biology Research
article

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

Marwa Hallal, Rita Makhoul, Z. Youness
article en

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 <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.

Case Reports in Dermatological MedicineVol. 2025(1)
Military Hospital (PK), Lebanese American University (LB), UCLouvain (BE)
Openalex Percentile: Top 82%
Skin and Cellular Biology Research
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