Article ; Online: Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
Clinical reviews in allergy & immunology
2023 Volume 65, Issue 3, Page(s) 377–402
Abstract: Recent advances in medical genetics elucidated the background of diseases characterized by superficial dermal and epidermal inflammation with resultant aberrant keratosis. This led to introducing the term autoinflammatory keratinization diseases ... ...
Abstract | Recent advances in medical genetics elucidated the background of diseases characterized by superficial dermal and epidermal inflammation with resultant aberrant keratosis. 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 CARD14 (generalized pustular psoriasis with concomitant psoriasis vulgaris, palmoplantar pustulosis, type V pityriasis rubra pilaris), IL36RN (generalized pustular psoriasis without concomitant psoriasis vulgaris, impetigo herpetiformis, acrodermatitis continua of Hallopeau), NLRP1 (familial forms of keratosis lichenoides chronica), and genes of the mevalonate pathway, i.e., MVK, PMVK, MVD, and FDPS (porokeratosis). Since then, endotypes underlying novel entities matching the concept of autoinflammatory keratinization diseases have been discovered (mutations of JAK1, POMP, and EGFR). 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 NLRP1 mutations is proposed. |
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MeSH term(s) | Humans ; Psoriasis/genetics ; Psoriasis/pathology ; Inflammation/genetics ; Mutation ; Immunity, Innate ; Keratosis ; Guanylate Cyclase/genetics ; Membrane Proteins ; CARD Signaling Adaptor Proteins/genetics ; Interleukins/genetics |
Chemical Substances | CARD14 protein, human (EC 4.6.1.-) ; Guanylate Cyclase (EC 4.6.1.2) ; Membrane Proteins ; CARD Signaling Adaptor Proteins ; IL36RN protein, human ; Interleukins |
Language | English |
Publishing date | 2023-12-16 |
Publishing country | United States |
Document type | Journal Article ; Review |
ZDB-ID | 1239045-8 |
ISSN | 1559-0267 ; 1080-0549 |
ISSN (online) | 1559-0267 |
ISSN | 1080-0549 |
DOI | 10.1007/s12016-023-08971-3 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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