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Original research
Recognising the spectrum of scleromyositis: HEp-2 ANA patterns allow identification of a novel clinical subset with anti-SMN autoantibodies
  1. Océane Landon-Cardinal1,
  2. Alexandra Baril-Dionne1,
  3. Sabrina Hoa1,
  4. Alain Meyer2,
  5. Valérie Leclair3,
  6. Josiane Bourré-Tessier1,
  7. Anne-Marie Mansour4,
  8. Farah Zarka4,
  9. Jean-Paul Makhzoum4,
  10. Jessica Nehme5,
  11. Eric Rich1,
  12. Jean-Richard Goulet1,
  13. Tamara Grodzicky1,
  14. Martial Koenig6,
  15. France Joyal6,
  16. Isabelle Richard7,
  17. Marie Hudson3,8,
  18. Ira Targoff9,
  19. Minoru Satoh10,
  20. Marvin J Fritzler11,
  21. Yves Troyanov1,12 and
  22. Jean-Luc Senécal1,13
  1. 1 Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada
  2. 2 Centre de Référence des Maladies Autoimmunes Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  3. 3 Division of Rheumatology, Department of Medicine, Jewish General Hospital; Department of Medicine, McGill University, Montreal, QC, Canada
  4. 4 Division of Internal Medicine, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada
  5. 5 Division of Geriatrics, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada
  6. 6 Division of Internal Medicine, CHUM; Department of Medicine, Université de Montréal, Montreal, QC, Canada
  7. 7 Centre intégré de santé et de services sociaux Abitibi Témiscamingue, Rouyn-Noranda, QC, Canada
  8. 8 Lady Davis Institute for Medical Research, Montreal, QC, Canada
  9. 9 University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
  10. 10 Department of Clinical Nursing, School of Health Sciences, University of Occupational and Environmental Health, Kitakyushu, Japan
  11. 11 Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
  12. 12 Division of Rheumatology, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada
  13. 13 Autoimmunity Research Laboratory, CHUM Research Center, Montreal, QC, Canada
  1. Correspondence to Océane Landon-Cardinal;oceane.landon-cardinal{at}


Objective To describe systemic sclerosis (SSc) with myopathy in patients without classic SSc-specific and SSc-overlap autoantibodies (aAbs), referred to as seronegative scleromyositis.

Methods Twenty patients with seronegative scleromyositis diagnosed by expert opinion were analysed retrospectively for SSc features at myositis diagnosis and follow-up, and stratified based on HEp-2 nuclear patterns by indirect immunofluorescence (IIF) according to International Consensus of Autoantibody Patterns. Specificities were analysed by protein A−assisted immunoprecipitation. Myopathy was considered an organ involvement of SSc.

Results SSc sine scleroderma was a frequent presentation (45%) at myositis diagnosis. Myositis was the most common first non-Raynaud manifestation of SSc (55%). Lower oesophagal dysmotility was present in 10 of 11 (91%) investigated patients. At follow-up, 80% of the patients met the American College of Rheumatology/EULAR SSc classification criteria. Two-thirds of patients had a positive HEp-2 IIF nuclear pattern (all with titers ≥1/320), defining three novel scleromyositis subsets. First, antinuclear antibody (ANA)-negative scleromyositis was associated with interstitial lung disease (ILD) and renal crisis. Second, a speckled pattern uncovered multiple rare SSc-specific aAbs. Third, the nuclear dots pattern was associated with aAbs to survival of motor neuron (SMN) complex and a novel scleromyositis subset characteriszed by calcinosis but infrequent ILD and renal crisis.

Conclusions SSc skin involvement is often absent in early seronegative scleromyositis. ANA positivity, Raynaud phenomenon, SSc-type capillaroscopy and/or lower oesophagal dysmotility may be clues for scleromyositis. Using HEp-2 IIF patterns, three novel clinicoserological subsets of scleromyositis emerged, notably (1) ANA-negative, (2) ANA-positive with a speckled pattern and (3) ANA-positive with nuclear dots and anti-SMN aAbs.

  • Polymyositis
  • Scleroderma
  • Systemic
  • Autoimmune Diseases

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  • Contributors Conceptualisation and design: OL-C, AB-D, MS, MJF, YT and J-LS. Acquisition of data: OL-C, AB-D, SH, JB-T, A-MM, FZ, J-PM, JN, ER, J-RG, TG, MK, FJ, IR, IT, MS, MJF, YT and J-LS. Analysis and interpretation: OL-C, AB-D, SH, AM, VL, JB-T, MK, MH, MS, MJF, YT and J-LS. Critical revision of the manuscript for important intellectual content: all authors.

  • Funding This research was supported in part by the University of Montreal Scleroderma Research Chair (J-LS); by grants from Canadian Institutes of Health Research (J-LS, MK) (#MOP-142211), Sclérodermie Québec, Scleroderma Society of Ontario, Scleroderma Society of Canada, the Scleroderma Association of Saskatchewan, Scleroderma Manitoba, and the Scleroderma Association of British Columbia (J-LS, MK, SH, OL-C); by donations from Mrs Gisèle Sarrazin-Locas in support of the Autoimmunity Research Laboratory; and by a Japan Society for the Promotion of Science KAKENHI Grant-in-Aid for Scientific Research #15K08790 (MS). Dr Senécal holds the University of Montreal Scleroderma Research Chair.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data are available upon reasonable request.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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