Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
Autoinflammation
Autoinflammatory keratinization diseases
CARD14
IL36RN
NADED
NLRP1
Journal
Clinical reviews in allergy & immunology
ISSN: 1559-0267
Titre abrégé: Clin Rev Allergy Immunol
Pays: United States
ID NLM: 9504368
Informations de publication
Date de publication:
16 Dec 2023
16 Dec 2023
Historique:
accepted:
24
09
2023
medline:
16
12
2023
pubmed:
16
12
2023
entrez:
16
12
2023
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 38103162
doi: 10.1007/s12016-023-08971-3
pii: 10.1007/s12016-023-08971-3
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023. The Author(s).
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