A case of anti-PL-7 antibody-positive antisynthetase syndrome with dermatomyositis-associated erythema induced sclerodermatous changes.
A case of anti-PL-7 antibody-positive antisynthetase syndrome with dermatomyositis-associated erythema induced sclerodermatous changes.
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抗 PL-7 抗体阳性抗合成酶综合征一例，伴有皮肌炎相关红斑诱发硬皮病改变。
DOI：
10.1093/rheumatology/keab370
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发表时间：
2021
期刊：
影响因子：
--
通讯作者：
Okiyama N.
中科院分区：
文献类型：
--
作者：
Fukuzono M;Sasaki K;Ichimura Y;Inoue S;Iwasaki R;Imai H;Saito A;Kubota N;Tanaka R;Nakamura Y;Fujisawa Y;Fujimoto M;Nomura T;Okiyama N.
亲爱的编辑，抗合成酶综合征（ASS）是一种异质性自身免疫性疾病，其特征是存在抗氨酰转移RNA合成酶（ARS）的自身抗体，临床特征包括间质性肺病（ILD）、关节炎、肌炎、雷诺现象、发热和/或机械手。已经鉴定了八种类型的抗ARS抗体：抗组氨酰、苏氨酰、丙氨酰、甘氨酰、异亮氨酰、天冬酰胺酰、苯丙氨酰和酪氨酰转移RNA合成酶抗体，分别称为抗Jo-1、PL-7、PL-12、EJ、OJ、KS、Zo和Ha抗体。尽管这些抗ARS抗体患者的临床特征相似，但每个亚组中存在一些特定特征[1，2]。一名57岁的日本女性，有2年的肌无力病史，面部、上肢、胸部和腹部广泛丘疹/鳞状红斑伴硬皮病，改良Rodnan皮肤评分（mRSS）21，由于上肢鳞状红斑伴水肿，可能被高估（图1A-C）。手动肌肉测试和肌电图显示四肢肌无力和肌源性变化，分别。从左肱二头肌的肌肉活检，这是建议目前肌炎的磁共振成像，显示淋巴细胞浸润的肌纤维。手指皮肤活检显示界面皮炎伴角化不良和空泡变性角化细胞，伴有单核淋巴细胞和嗜酸性粒细胞真皮浸润（图1D）。此外，前臂皮肤活检显示界面皮炎伴空泡变性角质形成细胞，伴有单核淋巴细胞真皮浸润和真皮和脂肪组织纤维化，伴胶原纤维肿胀和汗腺升高（图1 E）。胸部计算机断层扫描显示ILD（纤维化非特异性间质性肺炎模式）伴右叶牵引性支气管扩张和纵隔肺气肿。实验室检查显示血清肌酸激酶（4259 U/l;正常范围，42-150 U/l）、醛缩酶（41.8 IU/l;正常范围，2.7-5.9 IU/l）和C反应蛋白（9.02 mg/dl;正常范围，< 0.20 mg/dl）水平升高。尽管抗核抗体是阴性的，但在她的血清中检测到抗ARS自身抗体（指数值，213.3; MESACUPTM ELISA试剂盒，Medical & Biological Laboratories，Japan），其通过线印迹（EUROLINETM测定，Euroimmun，德国）被证实为抗PL-7的抗体。未检测到与皮肌炎相关的其他自身抗体（DM;抗Mi 2b、抗黑色素瘤分化相关基因5和抗转录中介因子1抗体）或与系统性硬化症相关的自身抗体（SSc;抗拓扑异构酶I、抗着丝粒、抗RNA聚合酶III和抗核糖核蛋白抗体）。患者被诊断为抗PL-7抗体阳性ASS，伴有DM和硬皮病症状。每日口服泼尼松龙40 mg和他克莫司3 mg后3个月，每月静脉注射免疫球蛋白进行额外治疗（400 mg/kg/d，连续5天）治疗DM，肌炎和斑丘疹样肉芽肿性病变得到改善，ILD的进展受到抑制，肺功能得到改善[%肺活量，42.3-56.4%;肺一氧化碳弥散量（DLCO）%，31.1-43.3%; DLCO/肺泡容积%，54.3-69.0%]。在泼尼松龙剂量逐渐减少的过程中，硬皮病在开始这些治疗后持续了3个月（图1F），并在6个月后显示出明确的改善。
DEAR EDITOR, Anti-synthetase syndrome (ASS) is a heterogeneous autoimmune disease characterized by the presence of autoantibodies against aminoacyl transfer RNA synthetases (ARS) with clinical features, including interstitial lung disease (ILD), arthritis, myositis, Raynaud’s phenomenon, fever, and/or mechanic’s hands. Eight types of anti-ARS antibodies have been identified: anti-histidyl, threonyl, alanyl, glycyl, isoleucyl, asparaginyl, phenylalanyl, and tyrosyl transfer RNA synthetase antibodies termed anti-Jo-1, PL-7, PL-12, EJ, OJ, KS, Zo, and Ha antibodies, respectively. Although the clinical features are similar in patients with these anti-ARS antibodies, there are some specific characteristics in each subgroup [1, 2]. A 57-yearold Japanese woman presented with a 2-year history of muscle weakness, widespread papules/scaly erythema accompanied by scleroderma on the face, upper extremities, chest and abdomen with a modified Rodnan skin score (mRSS) 21, which might be overestimated due to scaly erythema with oedema on the upper extremities (Fig. 1A–C). Manual muscle testing and electromyography revealed muscle weakness of the extremities and myogenic changes, respectively. Muscle biopsy from the left biceps brachii, which was suggested to present myositis by magnetic resonance imaging, showed lymphocytes infiltrating the muscle fibres. Skin biopsy from the finger showed interface dermatitis with dyskeratotic and vacuolar degenerated keratinocytes accompanied by dermal infiltration of mononuclear lymphocytes and eosinophils (Fig. 1D). Moreover, a skin biopsy from the forearm showed interface dermatitis with vacuolar degenerated keratinocytes accompanied by dermal infiltration of mononuclear lymphocytes and fibrosis in the dermis and fat tissue with swelling of collagen fibres and elevation of the sweat glands (Fig. 1E). Chest computed tomography revealed ILD (fibrotic nonspecific interstitial pneumonia pattern) with traction bronchiectasis in the right lobe dominantly, and mediastinal emphysema. Laboratory examination revealed elevated serum levels of creatine kinase (4259 U/l; normal range, 42–150 U/l), aldolase (41.8 IU/l; normal range, 2.7–5.9 IU/l), and C-reactive protein (9.02 mg/dl; normal range,< 0.20 mg/dl). Although antinuclear antibodies were negative, anti-ARS autoantibodies (index value, 213.3; MESACUPTM ELISA kit, Medical & Biological Laboratories, Japan), which were confirmed as antibodies against PL-7 by a line blot (EUROLINETM assays, Euroimmun, Germany), were detected in her serum. Other autoantibodies associated with dermatomyositis (DM; anti-Mi2b, anti-melanoma differentiation-associated gene 5, and anti-transcription intermediary factor 1 antibodies) or autoantibodies associated with systemic sclerosis (SSc; anti-topoisomerase I, anticentromere, anti-RNA polymerase III, and anti-ribonucleoprotein antibodies) were not detected. The patient was diagnosed with anti-PL-7 antibody-positive ASS with symptoms of DM and scleroderma. Three months after daily oral administration of prednisolone 40mg and tacrolimus 3mg, and an additional therapy with monthly intravenous immunoglobulin (400mg/kg/day for 5days) as treatments for DM, myositis and maculopapule erythematous lesions improved, and the progression of ILD was inhibited with improvements of pulmonary function [% vital capacity, 42.3–56.4%;% diffusing capacity of lung for carbon monoxide (DLCO), 31.1–43.3%; and% DLCO/alveolar volume, 54.3–69.0%]. During tapering of the prednisolone dose, scleroderma persisted 3months after the start of these treatments (Fig. 1F) and showed definite improvement 6months …
局部硬皮病组织学特征为液化变性和上层真皮纤维化：可能与化疗有关
影响因子：
4.1
作者：
S. Toyama;S. Sato;Y. Asano
通讯作者：
Y. Asano
影响因子：
3.4
作者：
Aguila, Lisbeth Aranbicia;Ugolini Lopes, Michelle Remiao;Shinjo, Samuel Katsuyuki
通讯作者：
Shinjo, Samuel Katsuyuki