Department of Medicine, University of California, San Francisco, 94143, USA.
Annu Rev Pathol. 2011;6:509-37. doi: 10.1146/annurev-pathol-011110-130312.
Systemic sclerosis (SSc), also known as scleroderma, is a rare connective tissue disease characterized by vascular and immune dysfunction, leading to fibrosis that can damage multiple organs. Its pathogenesis is complex and poorly understood. Two major clinical subtypes are the limited and diffuse forms. Research into SSc has been hampered by its rarity, its clinical heterogeneity, and the lack of mouse models that accurately recapitulate the disease. Clinical and basic studies have yielded some mechanistic clues regarding pathogenesis. Recent insights gained through the use of microarrays have revealed distinctive subsets of SSc within and beyond the limited and diffuse subsets. In this review, we discuss potential mechanisms underlying the vascular, autoimmune, and fibrotic points of dysregulation. Proper categorization of SSc patients for research studies by use of microarrays or other biomarkers is critical, as disease heterogeneity may explain some of the inconsistencies of prior studies.
系统性硬化症（SSc），也称为硬皮病，是一种罕见的结缔组织疾病，其特征为血管和免疫功能障碍，导致纤维化，从而损害多个器官。其发病机制复杂，尚不清楚。两种主要的临床亚型为局限性和弥漫性。由于其罕见性、临床异质性以及缺乏准确再现疾病的小鼠模型，SSc 的研究受到阻碍。临床和基础研究已经为发病机制提供了一些机制线索。最近通过使用微阵列获得的新见解揭示了局限性和弥漫性亚型内和之外的 SSc 的独特亚群。在这篇综述中，我们讨论了血管、自身免疫和纤维化失调的潜在机制。通过使用微阵列或其他生物标志物对 SSc 患者进行适当的分类对于研究至关重要，因为疾病异质性可能解释了先前研究的一些不一致性。
