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Mutations in PERP Cause Dominant and Recessive Keratoderma

Sabine Duchatelet1, Lynn M Boyden2, Akemi Ishida-Yamamoto3

  • 1Laboratory of Genetic Skin Diseases, INSERM Imagine Institute, Paris, France; University Paris Descartes, Paris, France.

The Journal of Investigative Dermatology
|October 16, 2018
PubMed
Summary

Mutations in PERP, a desmosome component, cause human keratoderma. Different PERP mutations lead to Olmsted syndrome or erythrokeratoderma, impacting epidermal homeostasis and cell adhesion.

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