Skip to main content
SpringerLink
Log in

A 45-Year-Old Woman with Proximal Limb Weakness and Skin Peeling on Fingertips

  • Chapter
  • First Online:
A Case-Based Guide to Neuromuscular Pathology

  • 1000 Accesses

Abstract

Based on the clinical presentation, autoantibody association, and muscle biopsy features, idiopathic inflammatory myopathies are currently classified into fiver distinct subtypes: inclusion body myositis, polymyositis, dermatomyositis, immune-mediated necrotizing myopathy, and antisynthetase syndrome. Antisynthetase syndrome is characterized by the presence of anti-tRNA synthetase autoantibodies, myositis, interstitial lung disease, arthralgia, mechanic’s hands, and Raynaud's phenomenon. Here, we describe a case of antisynthetase syndrome associated with anti-Jo-1 autoantibody to illustrate the clinical and muscle biopsy features.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Allenbach Y, Benveniste O, Goebel HH, Stenzel W. Integrated classification of inflammatory myopathies. Neuropathol Appl Neurobiol. 2017;43(1):62–81.

    Article  CAS  PubMed  Google Scholar 

  2. Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med. 1975;292(8):403–7.

    Article  CAS  PubMed  Google Scholar 

  3. Bucelli RC, Pestronk A. Immune myopathies with perimysial pathology: clinical and laboratory features. Neurol Neuroimmunol Neuroinflamm. 2018;5(2):e434.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Carpenter S, Karpati G, Heller I, Eisen A. Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy. Neurology. 1978;28(1):8–17.

    Article  CAS  PubMed  Google Scholar 

  5. Dalakas MC. Polymyositis, dermatomyositis and inclusion-body myositis. N Engl J Med. 1991;325(21):1487–98.

    Article  CAS  PubMed  Google Scholar 

  6. De Bleecker JL, De Paepe B, Aronica E, de Visser M, Group EMMBS, Amato A, et al. 205th ENMC International Workshop: pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands. Neuromuscul Disord. 2015;25(3):268–72.

    Article  PubMed  Google Scholar 

  7. Hoogendijk JE, Amato AA, Lecky BR, Choy EH, Lundberg IE, Rose MR, et al. 119th ENMC international workshop: trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10–12 October 2003, Naarden, The Netherlands. Neuromuscul Disord. 2004;14(5):337–45.

    Article  PubMed  Google Scholar 

  8. Love LA, Leff RL, Fraser DD, Targoff IN, Dalakas M, Plotz PH, et al. A new approach to the classification of idiopathic inflammatory myopathy: myositis-specific autoantibodies define useful homogeneous patient groups. Medicine (Baltimore). 1991;70(6):360–74.

    Article  CAS  Google Scholar 

  9. Mariampillai K, Granger B, Amelin D, Guiguet M, Hachulla E, Maurier F, et al. Development of a new classification system for idiopathic inflammatory myopathies based on clinical manifestations and myositis-specific autoantibodies. JAMA Neurol. 2018;75(12):1528–37.

    Article  PubMed  PubMed Central  Google Scholar 

  10. McGrath ER, Doughty CT, Amato AA. Autoimmune myopathies: updates on evaluation and treatment. Neurotherapeutics. 2018;15(4):976–94.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Pestronk A. Acquired immune and inflammatory myopathies: pathologic classification. Curr Opin Rheumatol. 2011;23(6):595–604.

    Article  CAS  PubMed  Google Scholar 

  12. Troyanov Y, Targoff IN, Tremblay JL, Goulet JR, Raymond Y, Senecal JL. Novel classification of idiopathic inflammatory myopathies based on overlap syndrome features and autoantibodies: analysis of 100 French Canadian patients. Medicine (Baltimore). 2005;84(4):231–49.

    Article  Google Scholar 

  13. Schmidt J. Current classification and management of inflammatory myopathies. J Neuromuscul Dis. 2018;5(2):109–29.

    Article  PubMed  PubMed Central  Google Scholar 

  14. Suzuki S, Uruha A, Suzuki N, Nishino I. Integrated diagnosis project for inflammatory myopathies: an association between autoantibodies and muscle pathology. Autoimmun Rev. 2017;16(7):693–700.

    Article  CAS  PubMed  Google Scholar 

  15. Satoh M, Tanaka S, Ceribelli A, Calise SJ, Chan EK. A comprehensive overview on myositis-specific antibodies: new and old biomarkers in idiopathic inflammatory myopathy. Clin Rev Allergy Immunol. 2017;52(1):1–19.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Witt LJ, Curran JJ, Strek ME. The diagnosis and treatment of antisynthetase syndrome. Clin Pulm Med. 2016;23(5):218–26.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Connors GR, Christopher-Stine L, Oddis CV, Danoff SK. Interstitial lung disease associated with the idiopathic inflammatory myopathies: what progress has been made in the past 35 years? Chest. 2010;138(6):1464–74.

    Article  PubMed  Google Scholar 

  18. Solomon J, Swigris JJ, Brown KK. Myositis-related interstitial lung disease and antisynthetase syndrome. J Bras Pneumol. 2011;37(1):100–9.

    Article  PubMed  Google Scholar 

  19. Papadopoulou C, McCann LJ. The vasculopathy of juvenile dermatomyositis. Front Pediatr. 2018;6:284.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Wang CH, Wang NC, Lin TY, Chen CH. Anti-Jo-1 myositis and the antiphospholipid syndrome showing right ventricular thrombus: a novel overlap syndrome with atypical presentation. Mod Rheumatol. 2014;24(5):865–8.

    Article  CAS  PubMed  Google Scholar 

  21. Noguchi E, Uruha A, Suzuki S, Hamanaka K, Ohnuki Y, Tsugawa J, et al. Skeletal muscle involvement in antisynthetase syndrome. JAMA Neurol. 2017;74(8):992–9.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Hervier B, Meyer A, Dieval C, Uzunhan Y, Devilliers H, Launay D, et al. Pulmonary hypertension in antisynthetase syndrome (ASS): prevalence, aetiology and survival. Eur Respir J. 2013;42(5):1271–82.

    Article  PubMed  Google Scholar 

  23. Hamaguchi Y, Fujimoto M, Matsushita T, Kaji K, Komura K, Hasegawa M, et al. Common and distinct clinical features in adult patients with anti-aminoacyl-tRNA synthetase antibodies: heterogeneity within the syndrome. PLoS One. 2013;8(4):e60442.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Stenzel W, Preusse C, Allenbach Y, Pehl D, Junckerstorff R, Heppner FL, et al. Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy. Neurology. 2015;84(13):1346–54.

    Article  CAS  PubMed  Google Scholar 

  25. Alhatou MI, Sladky JT, Bagasra O, Glass JD. Mitochondrial abnormalities in dermatomyositis: characteristic pattern of neuropathology. J Mol Histol. 2004;35(6):615–9.

    PubMed  Google Scholar 

  26. Cai C, Anthony DC, Pytel P. A pattern-based approach to the interpretation of skeletal muscle biopsies. Mod Pathol. 2019;32(4):462–83.

    Article  PubMed  Google Scholar 

  27. Bronner IM, Hoogendijk JE, Veldman H, Ramkema M, van den Bergh Weerman MA, Rozemuller AJ, et al. Tubuloreticular structures in different types of myositis: implications for pathogenesis. Ultrastruct Pathol. 2008;32(4):123–6.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Susan C. Shin

  3. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Chunyu Cai

Authors
  1. Lan Zhou
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Susan C. Shin
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Chunyu Cai
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Lan Zhou .

Editor information

Editors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Dennis K. Burns

  3. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Chunyu Cai

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Zhou, L., Shin, S.C., Cai, C. (2020). A 45-Year-Old Woman with Proximal Limb Weakness and Skin Peeling on Fingertips. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_5

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-25682-1_5

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-25681-4

  • Online ISBN: 978-3-030-25682-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation