Milam Emily C, Futran Jacobo, Franks Andrew G
Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, USA.
Hospital for Special Surgery, Rheumatology Division, New York, USA.
Open Rheumatol J. 2016 Nov 30;10:122-128. doi: 10.2174/1874312901610010122. eCollection 2016.
Dermatomyositis (DM) is an autoimmune connective tissue disease that primarily targets the muscle, skin, and lungs. Many patients have autoantibodies that correspond to distinct clinical phenotypes. Melanoma differentiation-associated gene 5 (anti-MDA5) antibody, a specific antibody that targets the melanoma differentiation-associated gene 5 (MDA5), has been reported in DM cases and is significant for a distinct cutaneous presentation and rapidly progressive interstitial lung disease.
Herein, we describe a patient with DM with a positive anti-MDA5 antibody and characteristic clinical phenotype, who subsequently developed coexisting systemic lupus erythematosus (SLE). A diagnosis of SLE was supported by his clinical phenotype, positive serologies, hypocomplementemia, and progression to glomerulonephritis and lupus cerebritis, features of which fulfilled the American College of Rheumatology criteria for SLE.
DM is known to overlap with other autoimmune diseases, including SLE, and coexistence can lead to a wide variety of clinical presentations. SLE overlapping with anti-MDA5 positive DM may present with distinct clinical features.
皮肌炎（DM）是一种自身免疫性结缔组织病，主要累及肌肉、皮肤和肺部。许多患者存在与不同临床表型相对应的自身抗体。黑色素瘤分化相关基因5（抗MDA5）抗体是一种靶向黑色素瘤分化相关基因5（MDA5）的特异性抗体，已在皮肌炎病例中报道，对独特的皮肤表现和快速进展的间质性肺病具有重要意义。
在此，我们描述了一名抗MDA5抗体阳性且具有特征性临床表型的皮肌炎患者，该患者随后并发了系统性红斑狼疮（SLE）。其临床表型、血清学阳性、补体降低以及进展为肾小球肾炎和狼疮性脑病均支持系统性红斑狼疮的诊断，这些特征符合美国风湿病学会系统性红斑狼疮的诊断标准。
已知皮肌炎可与包括系统性红斑狼疮在内的其他自身免疫性疾病重叠，并存可导致多种临床表现。抗MDA5阳性的皮肌炎合并系统性红斑狼疮可能具有独特的临床特征。
