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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
Roberto  DepascaleRoberto Depascale1Anna  GhirardelloAnna Ghirardello2Elisabetta  ZanattaElisabetta Zanatta1Chiara  FrancoChiara Franco1Marisol  BracalentiMarisol Bracalenti1Federico  PettorossiFederico Pettorossi1Mariele  GattoMariele Gatto1Elena  TreppoElena Treppo3Beatrice  MoccaldiBeatrice Moccaldi1Margherita  ZenMargherita Zen1Stefano  PiasericoStefano Piaserico1Christian  CiolfiChristian Ciolfi1Luca  QuartuccioLuca Quartuccio3Andrea  DoriaAndrea Doria1Luca  IaccarinoLuca Iaccarino1*
  • 1University of Padua, Padua, Veneto, Italy
  • 2University Hospital of Padua, Padua, Veneto, Italy
  • 3University of Udine, Udine, Italy

The final, formatted version of the article will be published soon.

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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