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This led to introducing the term autoinflammatory keratinization diseases encompassing entities in which monogenic mutations cause spontaneous activation of the innate immunity and subsequent disruption of the keratinization process. Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of <jats:italic>CARD14<\/jats:italic> (generalized pustular psoriasis with concomitant psoriasis vulgaris, palmoplantar pustulosis, type V pityriasis rubra pilaris), <jats:italic>IL36RN<\/jats:italic> (generalized pustular psoriasis without concomitant psoriasis vulgaris, impetigo herpetiformis, acrodermatitis continua of Hallopeau), <jats:italic>NLRP1<\/jats:italic> (familial forms of keratosis lichenoides chronica), and genes of the mevalonate pathway, i.e., <jats:italic>MVK<\/jats:italic>, <jats:italic>PMVK<\/jats:italic>, <jats:italic>MVD<\/jats:italic>, and <jats:italic>FDPS<\/jats:italic> (porokeratosis). Since then, endotypes underlying novel entities matching the concept of autoinflammatory keratinization diseases have been discovered (mutations of <jats:italic>JAK1<\/jats:italic>, <jats:italic>POMP<\/jats:italic>, and <jats:italic>EGFR<\/jats:italic>)<jats:italic>.<\/jats:italic> This review describes the concept and pathophysiology of autoinflammatory keratinization diseases and outlines the characteristic clinical features of the associated entities. Furthermore, a novel term for NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) describing the spectrum of autoinflammatory keratinization diseases secondary to <jats:italic>NLRP1<\/jats:italic> mutations is proposed.<\/jats:p>","DOI":"10.1007\/s12016-023-08971-3","type":"journal-article","created":{"date-parts":[[2023,12,16]],"date-time":"2023-12-16T08:01:30Z","timestamp":1702713690000},"page":"377-402","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Autoinflammatory Keratinization Diseases\u2014The Concept, Pathophysiology, and Clinical Implications"],"prefix":"10.1007","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7633-4168","authenticated-orcid":false,"given":"Leszek","family":"Blicharz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6139-7281","authenticated-orcid":false,"given":"Joanna","family":"Czuwara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8308-1023","authenticated-orcid":false,"given":"Lidia","family":"Rudnicka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5940-6916","authenticated-orcid":false,"given":"Antonio","family":"Torrelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,12,16]]},"reference":[{"issue":"1","key":"8971_CR1","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng0997-25","volume":"17","author":"French FMF Consortium","year":"1997","unstructured":"French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. 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