Skip to main content

Autoinflammatory Syndromes: Relevance to Inflammatory Skin Diseases and Personalized Medicine

  • Chapter
  • First Online:
Personalized Treatment Options in Dermatology
  • 932 Accesses

Abstract

The main monogenic autoinflammatory syndromes are reviewed and their relevance to the understanding and treatment of sporadic and complex disorders, is discussed. Diseases addressed in this chapter include CAPS, DIRA, FMF, PAPA syndrome, CANDLE syndrome, AOSD and Schnitzler’s syndrome. The comprehension of the pathogenetic mechanisms of these autoinflammatory disorders has profoundly changed the nosology of inflammatory disorders. It has opened the path to a sign based, personalized approach to the patient with an inflammatory disorder, allowing optimized treatment and avoiding unnecessary overtreatment.

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 159.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover 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. McGonagle D, McDermott MF. A proposed classification of the immunological diseases. PLoS Med. 2006;3(8):e297.

    Article  PubMed Central  PubMed  Google Scholar 

  2. Lutz V, Lipsker D. Acitretin- and tumor necrosis factor inhibitor-resistant acrodermatitis continua of Hallopeau responsive to the interleukin 1 receptor antagonist anakinra. Arch Dermatol. 2012;148:297–9.

    Article  CAS  PubMed  Google Scholar 

  3. Goldbach-Mansky R. Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1. Clin Exp Immunol. 2012;167(3):391–404.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  4. Jesus AA, Goldbach-Mansky R. IL-1 blockade in autoinflammatory syndromes. Ann Rev Med. 2014;65:223–44.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  5. Stoffman N, Magal N, Shohat T, et al. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet. 2000;8:307–10.

    Article  CAS  PubMed  Google Scholar 

  6. Jéru I, Le Borgne G, Cochet E, et al. Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum. 2011;63(5):1459–64.

    Article  PubMed  Google Scholar 

  7. Kieffer C, Cribier B, Lipsker D. Neutrophilic urticarial dermatosis: a variant of neutrophilic urticaria strongly associated with systemic disease. Report of 9 new cases and review of the literature. Medicine (Baltimore). 2009;88(1):23–31.

    Article  Google Scholar 

  8. Kolivras A, Theunis A, Ferster A, et al. Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement. J Cutan Pathol. 2011;38(2):202–8.

    Article  PubMed  Google Scholar 

  9. Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360(23):2426–37.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  10. Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilıkkan B, Asal GT, Goldbach-Mansky R, Sanal O. A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset. Clin Immunol. 2012;145(1):77–81.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  11. Reddy S, Jia S, Geoffrey R, Lorier R, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med. 2009;360(23):2438–44.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  12. Minkis K, Aksentijevich I, Goldbach-Mansky R, Magro C, Scott R, Davis JG, Sardana N, Herzog R. Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis. Arch Dermatol. 2012;148(6):747–52.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  13. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879–85.

    Article  CAS  PubMed  Google Scholar 

  14. Radakovic S, Holzer G, Tanew A. Erysipelas-like erythema as a cutaneous sign of familial Mediterranean fever: a case report and review of the histopathologic findings. J Am Acad Dermatol. 2013;68(2):e61–3.

    Article  PubMed  Google Scholar 

  15. Barzilai A, Langevitz P, Goldberg I, et al. Erysipelas-like erythema of familial Mediterranean fever: clinicopathologic correlation. J Am Acad Dermatol. 2000;42:791–5.

    Article  CAS  PubMed  Google Scholar 

  16. Demidowich AP, Freeman AF, Kuhns DB, et al. Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). Arthritis Rheum. 2012;64(6):2022–7.

    Article  PubMed Central  PubMed  Google Scholar 

  17. Marzano AV, Trevisan V, Gattorno M, et al. Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene. JAMA Dermatol. 2013;149:762–4.

    Article  PubMed  Google Scholar 

  18. Braun-Falco M, Kovnerystyy O, Lohse P, Ruzicka T. Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)–a new autoinflammatory syndrome distinct from PAPA syndrome. J Am Acad Dermatol. 2012;66(3):409–15.

    Article  PubMed  Google Scholar 

  19. Koné-Paut I, Hentgen V, Guillaume-Czitrom S, et al. The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology (Oxford). 2009;48(7):840–2.

    Article  Google Scholar 

  20. Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol. 2009;27:621–68.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  21. Marrakchi S, Guigue P, Renshaw BR, et al. Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med. 2011;365(7):620–8.

    Article  CAS  PubMed  Google Scholar 

  22. Jordan CT, Cao L, Roberson ED, et al. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012;90(5):784–95.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  23. Viguier M, Guigue P, Pagès C, Smahi A, Bachelez H. Successful treatment of generalized pustular psoriasis with the interleukin-1-receptor antagonist anakinra: lack of correlation with IL1RN mutations. Ann Intern Med. 2010;153(1):66–7.

    Article  PubMed  Google Scholar 

  24. Herlin T, Fiirgaard B, Bjerre M, et al. Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis. 2013;72(3):410–3.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  25. Lipsker D, Veran Y, Grunenberger F, et al. The Schnitzler syndrome. Four new cases and review of the literature. Medicine (Baltimore). 2001;80(1):37–44.

    Article  CAS  Google Scholar 

  26. Simon A, Asli B, Braun-Falco M, et al. Schnitzler’s syndrome: diagnosis, treatment, and follow-up. Allergy. 2013;68(5):562–8.

    Article  CAS  PubMed  Google Scholar 

  27. Quartier P, Allantaz F, Cimaz R, Pillet P, Messiaen C, Bardin C, et al. A multicentre, randomised, double-blind, placebo-controlled trial with the interleukin-1 receptor antagonist anakinra in patients with systemic-onset juvenile idiopathic arthritis (ANAJIS trial). Ann Rheum Dis. 2011;70:747–54.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  28. Laskari K, Tzioufas AG, Moutsopoulos HM. Efficacy and long-term follow-up of IL-1R inhibitor anakinra in adults with Still’s disease: a case-series study. Arthritis Res Ther. 2011;13:R91.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  29. Lipsker D, Lenormand C. Indications et modalities d’utilisation des anti-IL-1 dans les dermatoses inflammatoires. Ann Dermatol Venereol. 2012;139:459–67.

    Article  CAS  PubMed  Google Scholar 

  30. Kanazawa N. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. Allergol Int. 2012;61(2):197–206.

    CAS  PubMed  Google Scholar 

  31. Kunimoto K, Kimura A, Uede K, et al. A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations. Dermatology. 2013;227:26–30.

    Article  PubMed  Google Scholar 

  32. Torrelo A, Patel S, Colmenero I, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62(3):489–95.

    Article  PubMed  Google Scholar 

  33. Liu Y, Ramot Y, Torrelo A, et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2012;64(3):895–907.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  34. Lipsker D, Saurat JH. Neutrophilic cutaneous lupus erythematosus. At the edge between innate and acquired immunity. Dermatology. 2008;216:283–6.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Dan Lipsker MD, PhD .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Lipsker, D. (2015). Autoinflammatory Syndromes: Relevance to Inflammatory Skin Diseases and Personalized Medicine. In: Bieber, T., Nestle, F. (eds) Personalized Treatment Options in Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45840-2_7

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-45840-2_7

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-45839-6

  • Online ISBN: 978-3-662-45840-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics