一例抗黑色素瘤分化相关基因5抗体阳性皮肌炎的确诊

陈东妙; 王从容

doi:10.65948/DICM20260515.0007

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一例抗黑色素瘤分化相关基因5抗体阳性皮肌炎的确诊

更新时间：2026-08-21

- 一例抗黑色素瘤分化相关基因5抗体阳性皮肌炎的确诊
- A Case of Confirmed Diagnosis of Melanoma-Differentiation-Associated Gene 5 Antibody-Positive Dermatomyositis
- 数智医学 2026年页码：1-5
- 作者机构：
  
  南方医科大学南方医院增城院区检验医学科，广州 511340
- 作者简介：
  
  论文通信作者：王从容（congrongwang@smu.edu.cn）
- 基金信息：
- DOI：10.65948/DICM20260515.0007
  中图分类号：
- 收稿：2026-05-15，
  
  修回：2026-07-28，
  
  录用：2026-08-13，
  
  网络首发：2026-08-21，
- 稿件说明：
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陈东妙,王从容.一例抗黑色素瘤分化相关基因5抗体阳性皮肌炎的确诊[J].数智医学,

CHEN Dongmiao,WANG Congrong.A Case of Confirmed Diagnosis of Melanoma-Differentiation-Associated Gene 5 Antibody-Positive Dermatomyositis[J].Intelligent Digital Clinical Medicine,
陈东妙,王从容.一例抗黑色素瘤分化相关基因5抗体阳性皮肌炎的确诊[J].数智医学, DOI：10.65948/DICM20260515.0007.

CHEN Dongmiao,WANG Congrong.A Case of Confirmed Diagnosis of Melanoma-Differentiation-Associated Gene 5 Antibody-Positive Dermatomyositis[J].Intelligent Digital Clinical Medicine, DOI：10.65948/DICM20260515.0007.

摘要

患者，男，58 岁，以反复高热、咽痛、关节痛、小腿焦痂为主要起病表现，早期多次就诊被拟诊为感染、成人斯蒂尔病。经完善自身抗体联合检测，最终通过自身免疫性抗体联合检测确诊为抗黑色素瘤分化相关基因5抗体阳性皮肌炎（MDA5+DM）伴快速进展性间质性肺病（RP-ILD）。本病例梳理该疾病从疑似感染误诊、临床线索识别、自身抗体筛查到明确诊断的全过程，分析MDA5+DM早期识别存在的临床难点，提示临床对非特异性全身症状合并肺部病变的患者，应尽早开展自身免疫性抗体联合检测，减少漏诊与误诊，为该类疾病的临床诊疗提供参考。

Abstract

A 58‑year‑old male patient presented with recurrent high fever

sore throat

arthralgia and calf eschar as the initial manifestations. He was tentatively diagnosed with infection and Adult‑Onset Still’s Disease during multiple early hospital visits. After comprehensive detection of autoantibodies

he was finally confirmed to have melanoma‑differentiation‑associated gene 5 antibody‑positive dermatomyositis (MDA5+DM) complicated with rapidly‑progressive interstitial lung disease (RP‑ILD). This case reviews the whole clinical course from misdiagnosis as suspected infection

recognition of clinical clues

autoantibody screening to definitive diagnosis

and analyzes the difficulties in early identification of MDA5+DM. It suggests that combined detection of disease‑specific autoantibodies should be performed as early as possible for patients with non‑specific systemic symptoms accompanied by pulmonary lesions

so as to reduce missed diagnosis and misdiagnosis

and provide reference for clinical diagnosis and treatment of such diseases.

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Keywords

references

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Tavakolian K , Odak M , Mararenko A , et al . Anti-MDA5 associated clinically amyopathic dermatomyositis with rapidly progressive interstitial lung disease [J ] . J Med Cases . 2022 , 13 ( 8 ): 374 - 379 .

Witkowska A B , Cowley S , Dempsey P , et al . Multidisciplinary approach to anti-MDA5 antibody-positive dermatomyositis associated with rapidly progressive interstitial lung disease [J ] . BMJ Case Rep . 2022 , 15 ( 3 ): e246192 .

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Regan M , Chiu YH , Culley J , et al . Cutaneous clues to diagnosis: The vasculopathic form of anti-MDA5 dermatomyositis [J ] . BMJ Case Rep , 2026 , 19 ( 3 ).

Moore K E , Khoo T , Limaye V , et al . Immune dysregulation and infection susceptibility in Anti-MDA5 dermatomyositis [J ] . Semin Arthritis Rheum , 2026 , 78 : 152967 .

Li X , Liu Y , Cheng L , et al . Roles of biomarkers in anti-MDA5-positive dermatomyositis, associated interstitial lung disease, and rapidly progressive interstitial lung disease [J ] . J Clin Lab Anal , 2022 , 36 ( 11 ): e24726 .

Mehta A A , Paul T , Cb M , et al . Anti-MDA5 antibody-positive dermatomyositis with rapidly progressive interstitial lung disease: Report of two cases [J ] . BMJ Case Rep , 2021 , 14 ( 4 ).

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