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Related Experiment Video

Updated: Dec 28, 2025

Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
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Mutations in KRT10 in epidermolytic acanthoma.

Shayan Cheraghlou1, Lihi Atzmony1, Simon F Roy2

  • 1Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.

Journal of Cutaneous Pathology
|February 12, 2020
PubMed
Summary

Hotspot mutations in KRT10, specifically at the Arg156 position, are identified as the cause of epidermolytic acanthoma (EA). These genetic findings link EA to inherited epidermolytic ichthyosis, clarifying its molecular basis.

Keywords:
KRT10epidermolytic acanthomakeratin 10mutationswhole-exome sequencing

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Area of Science:

  • Dermatology
  • Genetics
  • Molecular Biology

Background:

  • Epidermolytic acanthoma (EA) is a rare skin condition with histopathological features similar to inherited epidermolytic hyperkeratosis (EHK) disorders.
  • Previous research speculated a link between EA and mutations in keratin genes (KRT10, KRT1, KRT2), but these remained unidentified.

Purpose of the Study:

  • To investigate the role of keratin gene mutations in the pathogenesis of epidermolytic acanthoma.
  • To identify specific genetic mutations contributing to EA development.

Main Methods:

  • Whole-exome sequencing (WES) was performed on genomic DNA from lesional tissue.
  • Sanger sequencing and restriction fragment length polymorphism (RFLP) analysis were used to screen additional samples.

Main Results:

  • Hotspot mutations in KRT10, specifically c.466C>T (p.Arg156Cys), were identified in 6 out of 11 screened cases of EA.
  • These mutations were found at the Arg156 position, a known mutation site for epidermolytic ichthyosis.

Conclusions:

  • Hotspot mutations in KRT10 at the Arg156 position are the underlying cause of epidermolytic acanthoma.
  • This finding establishes a molecular link between EA and inherited epidermolytic ichthyosis.