Autoinflammatory Keratinization Diseases—The Concept, Pathophysiology, and Clinical Implications

IF 8.4 2区医学 Q1 ALLERGY Clinical Reviews in Allergy & Immunology Pub Date : 2023-12-16 DOI:10.1007/s12016-023-08971-3

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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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自体炎性角质化疾病--概念、病理生理学和临床意义

摘要医学遗传学的最新进展阐明了以真皮和表皮浅层炎症为特征的疾病背景，以及由此导致的异常角化症。因此，人们提出了自身炎症性角质化疾病（autoinflammatory keratinization diseases）这一术语，其中包括单基因突变导致先天性免疫自发激活，进而破坏角质化过程的疾病。最初，自身炎症性角质化疾病归因于 CARD14 的致病变体（泛发性脓疱型银屑病，同时伴有寻常型银屑病、掌跖脓疱病、V 型红斑狼疮）、IL36RN（不伴有寻常型银屑病的泛发性脓疱型银屑病、脓疱型银屑病、Hallopeau 连续性皮炎）、NLRP1（家族性慢性苔藓样角化病）以及甲羟戊酸通路基因，即.................e.,MVK、PMVK、MVD 和 FDPS（角化病）。此后，人们又发现了与自身炎症性角质化疾病概念相匹配的新型实体（JAK1、POMP 和表皮生长因子受体的突变）。本综述描述了自身炎症性角质化疾病的概念和病理生理学，并概述了相关实体的特征性临床特点。此外，本文还提出了一个新名词--NLRP1相关自身炎症性疾病伴上皮角化不良（NADED），以描述继发于NLRP1基因突变的自身炎症性角化疾病谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Reviews in Allergy & Immunology 医学-过敏

CiteScore

22.30

自引率

1.10%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Reviews in Allergy & Immunology is a scholarly journal that focuses on the advancement of clinical management in allergic and immunologic diseases. The journal publishes both scholarly reviews and experimental papers that address the current state of managing these diseases, placing new data into perspective. Each issue of the journal is dedicated to a specific theme of critical importance to allergists and immunologists, aiming to provide a comprehensive understanding of the subject matter for a wide readership. The journal is particularly helpful in explaining how novel data impacts clinical management, along with advancements such as standardized protocols for allergy skin testing and challenge procedures, as well as improved understanding of cell biology. Ultimately, the journal aims to contribute to the improvement of care and management for patients with immune-mediated diseases.