Department of Advanced Diagnostics, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.
University of Paris Est-Créteil and INSERM U955/IMRB-Team 16, Créteil, France.
Front Immunol. 2019 Apr 25;10:892. doi: 10.3389/fimmu.2019.00892. eCollection 2019.
Hidradenitis suppurativa/acne inversa (HS) is a chronic inflammatory disease involving hair follicles that presents with painful nodules, abscesses, fistulae, and hypertrophic scars, typically occurring in apocrine gland bearing skin. Establishing a diagnosis of HS may take up to 7 years after disease onset. HS severely impairs the quality of life of patients and its high frequency causes significant costs for health care system. HS patients have an increased risk of developing associated diseases, such as inflammatory bowel diseases and spondyloarthropathies, thereby suggesting a common pathophysiological mechanism. Familial cases, which are around 35% of HS patients, have allowed the identification of susceptibility genes. HS is perceived as a complex disease where environmental factors trigger chronic inflammation in the skin of genetically predisposed individuals. Despite the efforts made to understand HS etiopathogenesis, the exact mechanisms at the basis of the disease need to be still unraveled. In this review, we considered all OMICs studies performed on HS and observed that OMICs contribution in the context of HS appeared as not clear enough and/or rich of useful clinical information. Indeed, most studies focused only on one aspect-genome, transcriptome, or proteome-of the disease, enrolling small numbers of patients. This is quite limiting for the genetic studies, from different geographical areas and looking at a few aspects of HS pathogenesis without any integration of the findings obtained or a comparison among different studies. A strong need for an integrated approach using OMICs tools is required to discover novel actors involved in HS etiopathogenesis. Moreover, we suggest the constitution of consortia to enroll a higher number of patients to be analyzed following common and consensus OMICs strategies. Comparison and integration with the findings present in the OMICs repositories are mandatory. In a theoretic pipeline, the Skin-OMICs profile obtained from each HS patient should be compared and integrated with repositories and literature data by using appropriate InterOMICs approach. The final goal is not only to improve the knowledge of HS etiopathogenesis but also to provide novel tools to the clinicians with the eventual aim of offering a tailored treatment for HS patients.
化脓性汗腺炎/反向痤疮(HS)是一种慢性炎症性疾病,涉及毛囊,表现为疼痛结节、脓肿、瘘管和肥大性瘢痕,通常发生在大汗腺分布的皮肤中。HS 的诊断可能需要在发病后长达 7 年的时间。HS 严重影响患者的生活质量,其高发病率给医疗保健系统带来了巨大的成本。HS 患者发生相关疾病的风险增加,如炎症性肠病和脊柱关节病,这表明存在共同的病理生理机制。家族病例约占 HS 患者的 35%,这使得易感基因得以识别。HS 被认为是一种复杂的疾病,环境因素在遗传易感性个体的皮肤中引发慢性炎症。尽管人们努力了解 HS 的发病机制,但仍需要阐明疾病的确切机制。在这篇综述中,我们考虑了所有在 HS 上进行的 OMICs 研究,并观察到 OMICs 在 HS 中的贡献似乎不够清晰和/或富含有用的临床信息。事实上,大多数研究仅关注疾病的一个方面——基因组、转录组或蛋白质组,纳入的患者数量较少。这对于遗传研究来说是相当有限的,因为它们来自不同的地理区域,只关注 HS 发病机制的几个方面,而没有整合获得的发现或比较不同研究之间的结果。需要使用 OMICs 工具采用综合方法来发现参与 HS 发病机制的新因子。此外,我们建议组建联盟,招募更多的患者进行分析,遵循共同的和共识的 OMICs 策略。与 OMICs 存储库中的发现进行比较和整合是强制性的。在一个理论管道中,从每个 HS 患者获得的 Skin-OMICs 谱应该通过使用适当的 InterOMICs 方法与存储库和文献数据进行比较和整合。最终目标不仅是提高对 HS 发病机制的认识,而且为临床医生提供新的工具,最终目标是为 HS 患者提供量身定制的治疗。