Related Experiment Video
Updated: Jul 8, 2025
10:42
Generation and Culturing of Primary Human Keratinocytes from Adult Skin
Published on: December 22, 2017
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Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications
Leszek Blicharz1, Joanna Czuwara2, Lidia Rudnicka1
1Department of Dermatology, Medical University of Warsaw, 02-008, Warsaw, Poland.
Clinical Reviews in Allergy & Immunology
|December 16, 2023
Summary
Autoinflammatory keratinization diseases involve genetic mutations that trigger innate immunity, disrupting skin keratinization. This review details these conditions and proposes a new term, NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED).
Area of Science:
- Dermatology
- Genetics
- Immunology
Background:
- Recent advances in medical genetics have identified monogenic mutations underlying inflammatory skin conditions.
- These mutations lead to spontaneous innate immunity activation and disrupted keratinization, termed autoinflammatory keratinization diseases.
- Initially linked to CARD14, IL36RN, NLRP1, and mevalonate pathway genes, novel endotypes involving JAK1, POMP, and EGFR have emerged.
Purpose of the Study:
- To review the concept and pathophysiology of autoinflammatory keratinization diseases.
- To outline the clinical features of entities associated with these genetic defects.
- To propose a novel term, NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED), for NLRP1-related conditions.
Main Methods:
- Literature review of genetic mutations and associated dermatological conditions.
- Analysis of the pathophysiology linking innate immunity and keratinization defects.
- Clinical phenotyping of patients with autoinflammatory keratinization diseases.
Main Results:
- Autoinflammatory keratinization diseases encompass a spectrum of conditions caused by specific genetic mutations.
- Established links include CARD14, IL36RN, NLRP1, and mevalonate pathway genes (MVK, PMVK, MVD, FDPS).
- Novel genetic associations with JAK1, POMP, and EGFR expand the understanding of these diseases.
Conclusions:
- Autoinflammatory keratinization diseases represent a distinct group of disorders driven by genetic immune dysregulation.
- The proposed term NADED aims to consolidate understanding of NLRP1-associated conditions.
- Further research into these genetic-immune-skin interactions is warranted.
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