The mucocutaneous and systemic phenotype of dermatomyositis patients with antibodies to MDA5 (CADM-140): a retrospective study.
The mucocutaneous and systemic phenotype of dermatomyositis patients with antibodies to MDA5 (CADM-140): a retrospective study.
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DOI：
10.1016/j.jaad.2010.09.016
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发表时间：
2011-07
影响因子：
13.8
通讯作者：
Casciola-Rosen, Livia
中科院分区：
文献类型：
--
作者：
Fiorentino, David;Chung, Lorinda;Zwerner, Jeff;Rosen, Antony;Casciola-Rosen, Livia
关键词：
皮肌炎(DM)是一种多系统自身免疫性疾病，在约50%至70%的患者中发现了对疾病特异性抗原靶点的免疫反应的血清学证据。最近，黑色素瘤分化相关基因5(MDA5)已被确定为一种DM特异性自身抗原，似乎针对有轻度或无肌肉炎症的DM患者，并增加间质性肺部疾病的风险。我们希望通过检测MDA5来确定特定的皮肤表型是否与MDA5的反应性有关，从而了解MDA5在DM皮肤炎症中的作用。我们对加州斯坦福大学皮肤科门诊的77名糖尿病患者的血浆进行了回顾性筛查。我们发现10名患者(13%)有循环中的抗MDA5抗体，并有典型的皮肤表型，包括皮肤溃疡、掌部触痛丘疹或两者兼有。皮肤溃疡的典型区域包括外侧甲皱、Gottron丘疹和肘部。掌部丘疹的活检标本显示一种血管病变，其特征是血管纤维蛋白沉积并伴有不同的血管周围炎症。具有抗MDA5抗体的患者还增加了口腔疼痛和/或溃疡、手肿胀、关节炎/关节痛和弥漫性脱发的风险。与以前的报告一致，这些患者很少或根本没有肌炎，并增加了间质性肺部疾病的风险。这项研究是在一家第三转诊中心进行的。对相对较少的10例抗MDA5阳性患者进行了多项与MDA5抗体的相关性的回顾性研究。我们认为糖尿病患者的MDA5反应性是严重血管病变患者的特征。
Dermatomyositis (DM) is a multisystem autoimmune disease, in which serologic evidence of immune responses to disease-specific antigenic targets is found in approximately 50% to 70% of patients. Recently, melanoma differentiation-associated gene 5 (MDA5) has been identified as a DM-specific autoantigen that appears to be targeted in patients with DM and mild or absent muscle inflammation and with an increased risk of interstitial lung disease. We wished to understand the role of MDA5 in DM skin inflammation by testing it to determine if a specific cutaneous phenotype is associated with MDA5 reactivity. We retrospectively screened plasma from 77 patients with DM in the outpatient clinics at the Stanford University Department of Dermatology in California. We found that 10 (13%) patients had circulating anti-MDA5 antibodies, and had a characteristic cutaneous phenotype consisting of skin ulceration, tender palmar papules, or both. Typical areas of skin ulceration included the lateral nailfolds, Gottron papules, and elbows. Biopsy specimens of the palmar papules showed a vasculopathy characterized by vascular fibrin deposition with variable perivascular inflammation. Patients with anti-MDA5 antibodies also had an increased risk of oral pain and/or ulceration, hand swelling, arthritis/arthralgia, and diffuse hair loss. Consistent with previous reports, these patients had little or no myositis and had increased risk of interstitial lung disease. This study was conducted at a tertiary referral center. Multiple associations with MDA5 antibodies were tested retrospectively on a relatively small cohort of 10 anti-MDA5-positive patients. We suggest that MDA5 reactivity in DM characterizes a patient population with severe vasculopathy.
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影响因子：
--
作者：
Levine, Stuart M.;Raben, Nina;Casciola-Rosen, Livia A.
通讯作者：
Casciola-Rosen, Livia A.
影响因子：
--
作者：
CERVERA, R;RAMIREZ, G;HUGHES, GRV
通讯作者：
HUGHES, GRV
影响因子：
1.7
作者：
Magro, Cynthia M.;Segal, Jeremy P.;Chadwick, Paul
通讯作者：
Chadwick, Paul
影响因子：
3.3
作者：
Crowson, AN;Magro, CM
通讯作者：
Magro, CM
影响因子：
--
作者：
KISSEL, JT;HALTERMAN, RK;MENDELL, JR
通讯作者：
MENDELL, JR