Melanoma differentiation–associated gene 5 (MDA5) is a recently described autoantigen target in a subset of patients with dermatomyositis. Anti-MDA5 dermatomyositis is characterized by a unique mucocutaneous and systemic phenotype that includes cutaneous and oral ulceration, painful palmar papules, alopecia, panniculitis, arthritis, a lower incidence of myositis, and, importantly, an elevated risk of interstitial lung disease with a potentially fatal course. Because the clinical features can differ substantially from those typically observed in cutaneous dermatomyositis, the diagnosis is often overlooked, which might negatively affect patient outcomes. This review aims to familiarize the clinician with the distinctive clinical features of anti-MDA5 dermatomyositis in order to enhance its recognition and to facilitate an appropriate screening and management strategy.

黑色素瘤分化相关基因5（MDA5）是最近描述的一部分皮肌炎患者自身抗原的靶标。抗MDA5皮肌炎的特点是独特的粘膜皮肤和全身表型，包括皮肤和口腔溃疡，疼痛的掌丘疹，脱发，脂膜炎，关节炎，肌炎的发生率较低，重要的是，间质性肺病的风险增加，可能致命的过程。由于临床特征可能与皮肤皮肌炎中通常观察到的特征大不相同，因此常常忽略了诊断，这可能会对患者的预后产生负面影响。