ORIGINAL RESEARCH article
Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1597282
This article is part of the Research TopicClinical and Immunological Phenotypic Characterization to better understand Pathogenesis and Response to Therapies in Systemic Autoimmune DiseasesView all 8 articles
Patients with anti-SAE+ Dermatomyositis display refractory and difficult-to-treat skin manifestations: case series from two Italian cohorts and review of literature
Provisionally accepted- 1University of Padua, Padua, Veneto, Italy
- 2University Hospital of Padua, Padua, Veneto, Italy
- 3University of Udine, Udine, Italy
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ABSTRACT: Aim. We aimed to describe clinical and serological characteristics of anti-small ubiquitin-like modifier activating enzyme (SAE) positive cases from a multicentric cohort of patients affected with idiopathic inflammatory myopathies (IIM). Methods. Anti-SAE antibody positive patients (determined by line immunoassay) from a prospective cohort of patients with IIM were retrospectively evaluated. We considered features at disease onset and during follow-up. Muscular involvement was evaluated by Manual Muscle Test-8, creatin-phosphokinase (CK) levels and/or Magnetic Resonance Imaging, interstitial lung disease (ILD) by high-resolution computed tomography, skin and joint involvement by clinical judgment. Therapeutic approach was also reported in all patients. A literature review is also provided. Results. Out of 170 patients with IIM, 10 (5.9%) were anti-SAE positive, all classified as having dermatomyositis; therefore, among 80 patients with dermatomyositis, the prevalence of anti-SAE antibodies was 12.5%. Ratio F:M was 9:1. Median time from onset of symptoms to diagnosis was 1 year (range 0-2 years). The mean age at onset of symptoms was 55.5 years (range 34-77 years). All patients had skin manifestations including photosensitive rash, heliotrope rash and Gottron's sign and/or papules (one with ulcerations). Refractory features requiring multiple lines of immunosuppressants were observed in 60% of cases. Four patients had arthritis and/or inflammatory arthralgia, four had muscular involvement, usually mild, and none had ILD. One patient had history of malignancy. All patients were treated with glucocorticoids and received different immunosuppressant, including cyclophosphamide. Conclusions. All patients with anti-SAE antibodies positivity were classified as having dermatomyositis, with severe and refractory skin manifestations in most cases. One case of malignancy was described; therefore, cancer screening should be warranted in all anti-SAE patients.
Keywords: Inflammatory myopathies, Dermatomyositis, anti-SAE antibodies, refractory skin involvement, Immunosuppresants
Received: 10 Apr 2025; Accepted: 30 Sep 2025.
Copyright: © 2025 Depascale, Ghirardello, Zanatta, Franco, Bracalenti, Pettorossi, Gatto, Treppo, Moccaldi, Zen, Piaserico, Ciolfi, Quartuccio, Doria and Iaccarino. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Luca Iaccarino, luca.iaccarino@unipd.it
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