Cristofori Maria, González-Rodríguez José C, Cortés-Marín Emmanuel E, Sallón Adipp, Sandoval Jairo
General Practice, Universidad de Ciencias Médicas (UCIMED), San Jose, CRI.
Internal Medicine, Universidad de Costa Rica, San José, CRI.
Cureus. 2025 Jul 23;17(7):e88601. doi: 10.7759/cureus.88601. eCollection 2025 Jul.
Dermatomyositis (DM) is a complex, systemic autoimmune disease characterized by hallmark cutaneous manifestations and inflammatory myopathy. It is associated with significant morbidity due to multisystem organ involvement and a well-established risk of underlying malignancy. This review provides a comprehensive update on the integrated pathophysiology, clinical subtypes, diagnostic strategies, and current management of DM, with a special emphasis on the modern, serology-driven approach to patient care. The pathogenesis is understood as an immune-mediated microangiopathy, with a central role for the type I interferon signaling pathway in driving tissue damage in both skin and muscle. The classification of DM has evolved beyond clinical presentation to a clinico-serological model where myositis-specific autoantibodies define distinct phenotypes with critical prognostic implications. For instance, anti-TIF1γ and anti-NXP2 antibodies are strongly associated with a high risk of malignancy, while anti-MDA5 antibodies identify patients at high risk for rapidly progressive interstitial lung disease. The diagnostic approach integrates clinical findings with serological profiling, imaging studies such as muscle MRI, and histopathology, while a risk-stratified cancer screening protocol is a mandatory component of initial management in adults. Treatment has advanced from a primary reliance on corticosteroids and conventional immunosuppressants to include targeted therapies, such as rituximab and, more recently, Janus kinase inhibitors, which have shown efficacy in treating refractory disease. Ultimately, a personalized and multidisciplinary approach, guided by the patient's specific autoantibody profile, is essential for optimizing long-term outcomes in this heterogeneous disease.
皮肌炎(DM)是一种复杂的全身性自身免疫性疾病,其特征为典型的皮肤表现和炎性肌病。由于多系统器官受累以及存在潜在恶性肿瘤的既定风险,它会导致显著的发病率。本综述全面更新了皮肌炎的综合病理生理学、临床亚型、诊断策略和当前治疗方法,特别强调了以现代血清学为导向的患者护理方法。其发病机制被理解为一种免疫介导的微血管病,I型干扰素信号通路在驱动皮肤和肌肉组织损伤中起核心作用。皮肌炎的分类已从临床表现发展到临床血清学模型,其中肌炎特异性自身抗体定义了具有关键预后意义的不同表型。例如,抗TIF1γ和抗NXP2抗体与高恶性肿瘤风险密切相关,而抗MDA5抗体可识别快速进展性间质性肺病的高危患者。诊断方法将临床发现与血清学分析、肌肉MRI等影像学研究以及组织病理学相结合,而风险分层的癌症筛查方案是成人初始治疗的必要组成部分。治疗已从主要依赖皮质类固醇和传统免疫抑制剂发展到包括靶向治疗,如利妥昔单抗,以及最近的 Janus激酶抑制剂,这些药物在治疗难治性疾病方面已显示出疗效。最终,以患者特定的自身抗体谱为指导的个性化多学科方法对于优化这种异质性疾病的长期预后至关重要。