Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.
Exp Dermatol. 2024 Jan;33(1):e14986. doi: 10.1111/exd.14986. Epub 2023 Dec 7.
Autoimmune connective tissue disorders, including systemic lupus erythematosus, systemic sclerosis (SSc) and dermatomyositis (DM), often manifest with debilitating cutaneous lesions and can result in systemic organ damage that may be life-threatening. Despite recent therapeutic advancements, many patients still experience low rates of sustained remission and significant treatment toxicity. While genetic predisposition plays a role in these connective tissue disorders, the relatively low concordance rates among monozygotic twins (ranging from approximately 4% for SSc to about 11%-50% for SLE) have prompted increased scrutiny of the epigenetic factors contributing to these diseases. In this review, we explore some seminal studies and key findings to provide a comprehensive understanding of how dysregulated epigenetic mechanisms can contribute to the development of SLE, SSc and DM.
自身免疫性结缔组织病，包括系统性红斑狼疮、系统性硬皮病（SSc）和皮肌炎（DM），常表现为使人虚弱的皮肤损伤，并可能导致危及生命的全身性器官损伤。尽管最近有了治疗进展，但许多患者仍经历着持续缓解率低和显著治疗毒性的问题。虽然遗传易感性在这些结缔组织疾病中起作用，但同卵双胞胎的相对低一致性率（约为 SSc 的 4%，SLE 约为 11%-50%）促使人们更多地关注导致这些疾病的表观遗传因素。在这篇综述中，我们探讨了一些开创性的研究和主要发现，以全面了解失调的表观遗传机制如何导致 SLE、SSc 和 DM 的发展。
