中性粒细胞疾病可能属于多基因自身炎症性疾病的范畴
作者：Marzano AV
翻译：邓晓莉 校正：张警丰
发布：柴静 审核：赵金霞
摘要：
嗜中性粒细胞性皮炎是一组以中性粒细胞在皮肤聚集、临床表现为多形性皮损表现的疾病，包括脓疱、水疱、脓肿、丘疹、结节、斑疹以及溃疡等。由于这类疾病可能累及几乎所有的脏器，因此被冠以“中性粒细胞疾病”的名称。中性粒细胞疾病在临床病理上与自身炎症性疾病非常类似，表现为在没有感染、过敏以及自身免疫异常的情况下，受累脏器间断发作的炎症。中性粒细胞疾病可以分为三组：(1)深部或者真皮下的类型被称为坏疽性脓皮病；(2) 斑疹或者真皮内的类型被称为Sweet综合症；(3)皱褶处浅表的或表皮类型被称为无菌性脓疱病。第四种表皮/真皮/真皮下均可累及的类型刚刚被归类为中性粒细胞疾病，可能是因为综合症性的坏疽性脓皮病其发病机理刚刚被认为与自身炎症相关。越来越多的证据证明众多促炎因子，包括白介素1β、白介素17以及肿瘤坏死因子α参与了中性粒细胞疾病的发病，与经典的、单基因发病的自身炎症性疾病非常类似。此外，一些在自身炎症性疾病中起重要作用的基因突变被发现在中性粒细胞疾病中也发挥作用，提示中性粒细胞疾病可能属于多基因自身炎症性疾病的范畴。
附原文：Neutrophilicdermatoses are a group of conditions characterized by the accumulation ofneutrophils in the skin and clinically presenting with polymorphic cutaneouslesions, including pustules, bullae, abscesses, papules, nodules, plaques andulcers. In these disorders, the possible involvement of almost any organ systemhas lead to coin the term 'neutrophilic diseases'. Neutrophilic diseases haveclose clinicopathological similarities with the autoinflammatory diseases,which present with recurrent episodes of inflammation in the affected organs inthe absence of infection, allergy and frank autoimmunity. Neutrophilic diseasesmay be subdivided into three main groups: (1) deep or hypodermal forms whoseparadigm is pyoderma gangrenosum, (2) plaque-type or dermal forms whoseprototype is Sweet's syndrome and (3) superficial or epidermal forms amongwhich amicrobial pustulosis of the folds may be considered the model. A forthsubset of epidermal/dermal/hypodermal forms has been recently added to theclassification of neutrophilic diseases due to the emerging role of thesyndromic pyoderma gangrenosum variants, whose pathogenesis has shown arelevant autoinflammatory component. An increasing body of evidence supportsthe role of pro-inflammatory cytokines like interleukin (IL)-1-beta, IL-17 andtumour necrosis factor (TNF)-alpha in the pathophysiology of neutrophilicdiseases similarly to classic monogenic autoinflammatory diseases, suggestingcommon physiopathological mechanisms. Moreover, mutations of several genesinvolved in autoinflammatory diseases are likely to play a role in thepathogenesis of neutrophilic diseases, giving rise to regarding them as aspectrum of polygenic autoinflammatory conditions. In this review, we focus onclinical aspects, histopathological features and pathophysiological mechanismsof the paradigmatic forms of neutrophilic diseases, including pyodermagangrenosum, Sweet's syndrome, amicrobial pustulosis of the folds and the mainsyndromic presentations of pyoderma gangrenosum. A simple approach fordiagnosis and management of these disorders has also been provided..
引自：Marzano AV,Borghi A, Wallach D, Cugno M. A Comprehensive Review of Neutrophilic Diseases.Clin Rev Allergy Immunol. 2017 Jul 7.
