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黑色素瘤分化相关基因5(MDA5)型血清阴性皮肌炎的两例病例报告。

Two case reports of MDA5-type seronegative dermatomyositis.

作者信息

Balogh Lauren C, Chan Airiss R, Yacyshyn Elaine A, Gniadecki Robert

机构信息

Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Division of Dermatology, Department of Medicine, University of Alberta, Edmonton, AB, Canada.

出版信息

SAGE Open Med Case Rep. 2024 Dec 23;12:2050313X241309094. doi: 10.1177/2050313X241309094. eCollection 2024.

Abstract

Dermatomyositis (DM) is an autoimmune idiopathic inflammatory myopathy with characteristic dermatologic manifestations. Myositis-specific autoantibodies (MSAs) delineate DM subtypes and their prognoses. Uncommonly, patients present with distinct clinical features of DM, including photosensitive dermatitis, heliotrope rash, Gottron's papules, and nailfold changes; however, their autoimmune serology is negative for expected MSAs. Herein, we describe two unconventional cases of seronegative, amyopathic MDA5-DM and offer potential explanations, including fluctuating antibody levels, non-MSA pathophysiology, and limitations in current immunoassays.

摘要

皮肌炎(DM)是一种具有特征性皮肤表现的自身免疫性特发性炎性肌病。肌炎特异性自身抗体(MSA)可区分DM亚型及其预后。不常见的是,患者表现出DM的独特临床特征,包括光敏性皮炎、向阳疹、Gottron丘疹和甲褶改变;然而,他们的自身免疫血清学检查对于预期的MSA呈阴性。在此,我们描述了两例血清阴性、无肌病性MDA5-DM的非典型病例,并提供了潜在的解释,包括抗体水平波动、非MSA病理生理学以及当前免疫测定方法的局限性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e40a/11664525/d281341d7a44/10.1177_2050313X241309094-fig1.jpg

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