Association of Dermatomyositis Sine Dermatitis With Anti-Nuclear Matrix Protein 2 Autoantibodies
Association of Dermatomyositis Sine Dermatitis With Anti-Nuclear Matrix Protein 2 Autoantibodies
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DOI：
10.1001/jamaneurol.2020.0673
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发表时间：
2020-07-01
期刊：
影响因子：
29
通讯作者：
Nishino, Ichizo
中科院分区：
文献类型：
--
作者：
Inoue, Michio;Tanboon, Jantima;Nishino, Ichizo
本研究证实了真性皮肌炎的存在，确定了真性皮肌炎的患病率，并描述了真性皮肌炎的血清学特征。关于皮肌炎（DM）的报道很少，而且这种疾病的概念还没有被广泛接受。目的确认DMSD的存在，确定其患病率，并对其血清学特征进行分析。这是一项队列研究，回顾了2009年1月至2019年8月的临床信息、实验室数据和肌肉病理切片。我们进一步评估了14例DMSD患者的随访资料。中位（四分位间距）随访时间为34（16-64）个月。肌肉活检样本以及临床信息和实验室数据被送到日本的肌肉疾病转诊中心进行诊断。在2009年1月至2019年8月期间在国家神经病学和精神病学中心进行肌肉病理诊断的患者中，有199名患者符合纳入条件。这些患者接受了dm特异性自身抗体的全面调查（针对转录中介因子γ、Mi-2、黑色素瘤分化相关基因5、核基质蛋白2 [NXP-2]和小泛素样修饰物激活酶）；然而，17例患者被排除在外，因为他们的肌纤维不表达黏液病毒抗性蛋白A，这是糖尿病肌肉病理的敏感和特异性标志物。DMSD的诊断是基于在肌肉活检时没有皮疹。结果182例患者中，妇女93例（51%），儿童46例（25%）。
This study confirms the existence of dermatomyositis sine dermatitis, determines its prevalence, and characterizes the serologic features of dermatomyositis sine dermatitis.Importance Reports on dermatomyositis (DM) sine dermatitis (DMSD) are scarce, and the concept of the disease has not been widely accepted. Objective To confirm the existence of DMSD, determine its prevalence, and characterize its serologic features. Design, Setting, and Participants This is a cohort study that reviewed clinical information, laboratory data, and muscle pathology slides from January 2009 to August 2019. We further assessed the follow-up data of 14 patients with DMSD. The median (interquartile range) follow-up period was 34 (16-64) months. Muscle biopsy samples, along with clinical information and laboratory data, were sent to a referral center for muscle diseases in Japan for diagnosis. Of patients whose myopathologic diagnosis was made at the National Center of Neurology and Psychiatry between January 2009 and August 2019, 199 patients were eligible for inclusion. These patients underwent full investigation for DM-specific autoantibodies (against transcriptional intermediary factor gamma, Mi-2, melanoma differentiation-associated gene 5, nuclear matrix protein 2 [NXP-2], and small ubiquitin-like modifier activating enzyme ); however, 17 patients were excluded because their muscle fibers did not express myxovirus resistance protein A, a sensitive and specific marker of DM muscle pathology. Main Outcomes and Measures Diagnosis of DMSD was based on the absence of a skin rash at the time of muscle biopsy. Results Of the 182 patients, 93 were women (51%) and 46 were children (25%) (