Patel Nayankumar H, Padhiyar Jigna K, Patel Jahnvi R, Pandya Keval V
Department of Skin and VD, GCS Medical College, Hospital and Research Centre, Ahmedabad, Gujarat, India.
Department of Respiratory Medicine, GCS Medical College, Hospital and Research Centre, Ahmedabad, Gujarat, India.
Indian Dermatol Online J. 2024 Apr 23;15(5):823-827. doi: 10.4103/idoj.idoj_399_23. eCollection 2024 Sep-Oct.
Anti-melanoma differentiation-associated gene-5 antibody (anti-MDA-5 Ab) associated with clinically amyopathic dermatomyositis (CADM) is characterized by vasculopathic ulcers, mechanic's hands, and progressive interstitial lung disease (ILD). We present a case of 38-year-old female who presented with all these classical clinical features. Her investigations revealed normal serum muscle enzyme levels and the presence of anti-Mi2 and anti-MDA-5 antibodies by immunoblot. Imaging study revealed changes suggestive of ILD. She was treated with rituximab along with oral glucocorticoid and other supportive treatment to which she didn't respond adequately. Recently, it has been postulated that plasmacytoid dendritic cells produce interferon which is responsible for tissue injury in dermatomyositis (DM). Tofacitinib, by inhibiting JAK-STAT pathway, inhibits downstream cytokines, mainly type 1 interferon. So, we added tofacitinib as adjuvant therapy in our patient. Post-six months of commencement of adjuvant tofacitinib, patient experienced remarkable improvement in cutaneous features as well as in pulmonary fibrosis.
与临床无肌病性皮肌炎（CADM）相关的抗黑色素瘤分化相关基因5抗体（抗MDA-5抗体）的特征为血管性溃疡、技工手和进行性间质性肺病（ILD）。我们报告一例38岁女性，她具有所有这些典型临床特征。她的检查显示血清肌酶水平正常，免疫印迹显示存在抗Mi2和抗MDA-5抗体。影像学检查显示有提示ILD的改变。她接受了利妥昔单抗联合口服糖皮质激素及其他支持治疗，但反应不佳。最近有人提出浆细胞样树突状细胞产生的干扰素是皮肌炎（DM）组织损伤的原因。托法替布通过抑制JAK-STAT途径，抑制下游细胞因子，主要是1型干扰素。因此，我们在患者中加用托法替布作为辅助治疗。辅助使用托法替布6个月后，患者的皮肤特征以及肺纤维化有显著改善。
