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Updated: May 26, 2025

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Keratin Variants in Pyoderma Gangrenosum: Pathogenetic Insights from a Whole-Exome Sequencing-Based Bioinformatic

Chiara Moltrasio1, Ronald Rodrigues Moura2, Lucas Brandão3

  • 1Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

The Journal of Investigative Dermatology
|February 21, 2025
PubMed
Summary

Genetic variants in keratin genes, particularly KRT18, are linked to pyoderma gangrenosum (PG). A specific KRT18 variant (rs77999286) is associated with more severe, multilesional PG, suggesting a role in disease pathogenesis.

Keywords:
Genetic variantsKeratinsPathogenesisPyoderma gangrenosumWhole-exome sequencing

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Area of Science:

  • Dermatology
  • Genetics
  • Immunology

Background:

  • Pyoderma gangrenosum (PG) is an inflammatory neutrophilic dermatosis characterized by ulcerative skin lesions.
  • Its pathophysiology is not fully understood but involves genetic predisposition and immune dysregulation.
  • Keratin intermediate filaments are crucial for epidermal structure and function.

Purpose of the Study:

  • To investigate the genetic factors contributing to pyoderma gangrenosum susceptibility and disease severity.
  • To identify specific gene variants associated with PG, particularly focusing on keratin genes.

Main Methods:

  • Whole-exome sequencing was performed on 11 unrelated patients with PG.
  • Analysis included identifying keratin gene variants and assessing their association with disease phenotype (unilesional vs. multilesional).
  • In silico modeling (AlphaFold) and immunohistochemistry were used to evaluate the impact of identified variants on KRT18 protein structure and expression.

Main Results:

  • Eight out of 11 patients carried variants in keratin-encoding genes.
  • A recurrent KRT18 variant (rs77999286) was found in 5/6 multilesional PG patients and 1/5 unilesional PG patients.
  • This KRT18 variant destabilized KRT18 protein structure and resulted in undetectable KRT18 staining in lesional skin.

Conclusions:

  • Keratin gene variants, especially in KRT18, may contribute to the pathogenesis of pyoderma gangrenosum.
  • The KRT18 rs77999286 variant is a potential genetic factor associated with multilesional PG.
  • Further research into keratin's role in PG is warranted.