Saternus Roman, Schwingel Jérôme, Müller Cornelia S L, Vogt Thomas, Reichrath Jörg
Department of Dermatology, The Saarland University Hospital, 66421, Homburg, Germany.
Department of Internal Medicine, Caritasklinikum Saarbrücken St. Theresia, 66113, Saarbrücken, Germany.
J Transl Autoimmun. 2020 Nov 20;3:100071. doi: 10.1016/j.jtauto.2020.100071. eCollection 2020.
In the last decade, new scientific findings significantly improved our understanding of the molecular pathogenesis of autoinflammation and have resulted in the identification and definition of several pyoderma gangrenosum-associated autoinflammatory syndromes (PGAAIS) as new and distinct clinical entities. These different clinical entities include PAPA (pyogenic arthritis, pyoderma gangrenosum and acne conglobata), PASH (pyoderma gangrenosum, acne and suppurative hidradenitis), PAPASH (pyoderma gangrenosum, acne, suppurative hidradenitis and pyogenic arthritis), PsAPASH (pyoderma gangrenosum, acne, suppurative hidradenitis and psoriatic arthritis), PASS (pyoderma gangrenosum, acne conglobata, suppurative hidradenitis, and axial spondyloarthritis) and PAC (pyoderma gangrenosum, acne and ulcerative colitis), which can be distinguished by their clinical presentation and the presence or absence of mutations in several genes, such as the genes encoding proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1), nicastrin (NCSTN), Mediterranean fever (MEFV) and nucleotide-binding oligomerization domain-containing protein (NOD). In this systematic review, we summarize the present knowledge of this rapidly developing hot topic and provide a guide to enable the easy diagnosis of these syndromes in everyday clinical practice. Moreover, we report a rare case of PASS syndrome demonstrating successful treatment with adalimumab and another case of a previously unreported combination of symptoms, including psoriatic arthritis, pyoderma gangrenosum, suppurative hidradenitis and Crohn's disease (newly coined PsAPSC), as examples. Because of the identification of similar genetic and pathogenic mechanisms of PGAAIS, we think the wide variety of seemingly different syndromes may represent distinct phenotypes of one disease.
在过去十年中，新的科学发现显著增进了我们对自身炎症性疾病分子发病机制的理解，并促使人们识别和定义了几种与坏疽性脓皮病相关的自身炎症性综合征（PGAAIS），将其作为新的独特临床实体。这些不同的临床实体包括PAPA（化脓性关节炎、坏疽性脓皮病和聚合性痤疮）、PASH（坏疽性脓皮病、痤疮和化脓性汗腺炎）、PAPASH（坏疽性脓皮病、痤疮、化脓性汗腺炎和化脓性关节炎）、PsAPASH（坏疽性脓皮病、痤疮、化脓性汗腺炎和银屑病关节炎）、PASS（坏疽性脓皮病、聚合性痤疮、化脓性汗腺炎和轴性脊柱关节炎）以及PAC（坏疽性脓皮病、痤疮和溃疡性结肠炎），它们可通过临床表现以及几个基因（如编码脯氨酸 - 丝氨酸 - 苏氨酸磷酸酶相互作用蛋白1（PSTPIP1）、早老素增强子2（NCSTN）、地中海热（MEFV）和含核苷酸结合寡聚化结构域蛋白（NOD）的基因）是否存在突变来区分。在本系统综述中，我们总结了这一快速发展的热门话题的现有知识，并提供一份指南，以便在日常临床实践中轻松诊断这些综合征。此外，我们报告了一例罕见的PASS综合征病例，显示阿达木单抗治疗成功，以及另一例先前未报告的症状组合病例，包括银屑病关节炎、坏疽性脓皮病、化脓性汗腺炎和克罗恩病（新命名为PsAPSC），作为实例。由于PGAAIS存在相似的遗传和致病机制，我们认为各种看似不同的综合征可能代表一种疾病的不同表型。
