Skip to main content
SpringerLink
Log in
Book cover

Urticaria and Angioedema pp 97–108Cite as

Urticarial Syndromes and Autoinflammation

  • Chapter

This is a preview of subscription content, 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   89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   119.00
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

Learn about institutional subscriptions

Abbreviations

AA :

serum amyloid

ANA :

antinuclear antibody

CAPS :

cryopyrin-associated periodic syndrome

CBC :

complete blood count

CNS :

central nervous system

CRP :

C-reactive protein

CSA :

cyclosporine

DIF :

direct immuno fluorescence

ESR :

erythrocyte sedimentation rate

FCAS :

familial cold-induced autoinflammatory syndrome

FMF :

familial Mediterranean fever

HIDS :

hyperimmunoglobulin D with periodic fever syndrome

HLA :

human leukocyte antigen

HSP :

Henoch Schonlein purpura

IL :

interleukin

IgD/IgE/IgM :

immunoglobu-lin D/E/M

IFE :

immunofixation electrophoresis

MWS :

Muckle—Wells syndrome

NOMID :

neonatal onset multi-system inflammatory disorder

NSAIDs :

nonsteroidal anti-inflamma-tory drugs

SPEP :

serum protein electrophoresis

TNF :

tumor necrosis factor

TRAPS :

tumor necrosis factor receptor-associated periodic syndrome

References

  1. Samuels J, Ozen S. Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheum. 2006;18:108–17

    Article  Google Scholar 

  2. Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheum. 2005;17:576–99

    Article  Google Scholar 

  3. Sanchez-Cano D, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Villaverde R. Urticaria and angioedema in a patient with Behcet’ disease treated with adalimumab. Clin Exp Rheumatol. 2006;24 5 Suppl 42:S12

    Google Scholar 

  4. Clemmenson OJ, Menne T, Brandrup F, Thomsen K, Lange Wantzin G. Acute febrile neutro-philic dermatosis—a marker of malignancy? Acta Derm Venereol. 1989;69(1):52–8

    Google Scholar 

  5. See Lee JS, Loh TH, Seow SC, Tan SH. Prolonged urticaria with purpura: the spectrum of clinical and histopathologic features in a prospective series of 22 patients exhibiting the clinical features of urticarial vasculitis. JAAD 2007;56(6):994–1005

    Article  Google Scholar 

  6. Shinkai K, McCalmont TH, Leslie KS. Cryopyrin-associated periodic syndromes (CAPS) and autoinflammation. Clin Exp Dermatol. 2008;33(1):1–9

    PubMed  CAS  Google Scholar 

  7. Kone Paut I, Dubac M, Sportouch J, Minodier P, Garnier JM, Touitou I. Phenotype-genotype correlation in 91 patients with Familial Mediterranean fever reveals a higher frequency of cutaneous features. Rheumatology 2000;39:1275–9

    Article  PubMed  CAS  Google Scholar 

  8. International FMF Consortium. Ancient missence mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90(4):797–807

    Article  Google Scholar 

  9. Tunca M, Akar S, Onen F, et al Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine 2000;84:1–11

    Google Scholar 

  10. Barzilai A, Langevitz P, Goldberg I, Kopolovic J, Livneh A, Pras M, Trau H. Erysipelas-like erythema of familial Mediterranean fever: clinicopathologic correlation. J Am Acad Dermatol. 2000;42 5 Pt 1:791–5

    Article  Google Scholar 

  11. Alonso R, Cistero-Bahima A, Enrique E, San Miguel-Moncin MM. Recurrent urticaria as a rare manifestation of familial Mediterranean fever. J Investig Allergol Clin Immunol. 2002;12(1):60–1

    PubMed  CAS  Google Scholar 

  12. Atagunduz P, Ergun T, Direskeneli H. MEFV mutations are increased in Behcet’ disease and are associated with vascular involvement. Clin Exp Rheumatol. 2003;21: Suppl 30:S35–7

    PubMed  CAS  Google Scholar 

  13. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997; 17(1):25–31

    Article  Google Scholar 

  14. McDermott MF, Aksentijevich I, Galon J, et al Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133–44

    Article  PubMed  CAS  Google Scholar 

  15. Toro JR; Aksentijevich I; Hull K; Dean J; Kastner D. Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch Derm. 2000;136:1487–94

    Article  PubMed  CAS  Google Scholar 

  16. Lamprecht P, Moosig F, Adam-Klages S, Mrowietz U, Csernok E, Kirrstetter M, Ahmadi-Simab K, Schroder JO, Gross WL. Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann Rheum Dis. 2004;63(11):1518–20

    Article  PubMed  CAS  Google Scholar 

  17. Drenth JPH, Boom BW, Toonstra J, van der Meer JWM. Cutaneous manifestations and histo-logical findings in the hyperimmunoglobulinemia D syndrome. Arch Derm. 1994;130:59–65

    Article  PubMed  CAS  Google Scholar 

  18. Drenth JPH, Haagsma CJ, van der Meer JWM; The International Hyper-IgD Study Group. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine 1994;73(3):133–44

    Article  PubMed  CAS  Google Scholar 

  19. Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JGN, Beckmann JS, van der Meer JWM, Delpech M; International Hyper-IgD Study Group. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet. 1999;22:178–81

    Article  PubMed  CAS  Google Scholar 

  20. Lachmann HJ, Goodman HJB, Andrews PA, Gallagher H, Marsh J, Breuer S, Rowczenio DM, Bybee A, Hawkins PN. AA amyloidosis complicating hyperimmunoglobulinemia D with Periodic Fever Syndrome: a report of two cases. Arthritis Rheum. 2006;54(6):2010–4

    Article  PubMed  CAS  Google Scholar 

  21. Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, Roberts PF, Woo P, Grattan CE, Hawkins PN. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 2006;142(12):1591–7

    Article  PubMed  CAS  Google Scholar 

  22. Shinkai K, Kilcline C, Connolly MK, Frieden IJ. The pyrin family of fever genes: unmasking genetic determinants of autoinflammatory disease. Arch Dermatol. 2006;141:242–7

    Article  Google Scholar 

  23. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004;50:607–12

    Article  PubMed  CAS  Google Scholar 

  24. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O’Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. NEJM 2006;355(6):581–92

    Article  PubMed  CAS  Google Scholar 

  25. Agostini L, Martion F, Burns K, et al NALP3 forms an IL-1 beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004;20:319–25

    Article  PubMed  CAS  Google Scholar 

  26. Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner JL. The clinical continuum of cry-opyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56(4):1273–85

    Article  PubMed  CAS  Google Scholar 

  27. Arostegui JI, Aldea A, Modesto C, et al Clinical and genetic heterogeneity among Spanish patient with recurrent autoinflammatory syndromes associated with the CIAS1PYPAF1/Nalp3. Arthritis Rheum. 2004;50:4045–50

    Article  PubMed  CAS  Google Scholar 

  28. Schwartz T, Langevitz P, Zemer D, Gazit E, Pras M, Livneh A. Behcet’ disease in Familial Mediterranean fever: characterization of the association between the two diseases. Semin Arthritis Rheum. 2000;29:286–95

    Article  PubMed  CAS  Google Scholar 

  29. Imirzalioglu N, Dursun A, Tastan B, Soysal Y, Yakicier MC. MEFV gene is a probable susceptibility gene for Behcet’ disease. Scand J Rheumatol. 2005;34:56–8

    Article  PubMed  CAS  Google Scholar 

  30. Cattan D. MEFV mutation carriers and diseases other than Familial Mediterranean fever: proved and non-proved associations; putative biological advantage. Curr Drug Targets Inflamm Allergy. 2005;4:105–12

    Article  PubMed  CAS  Google Scholar 

  31. Espinosa E, Arostegui JI, Plaza S, Rius J, Cervera R, Yague J, Font J. Behcet’ disease and hereditary periodic fever syndromes: casual association or causal relationship? Clin Exp Rheumatol. 2005;23 Suppl 38:S64–6

    PubMed  CAS  Google Scholar 

  32. Kone-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou I. Autoinflammatory gene mutations in Behcet’ disease. Ann Rheum Dis. 2007;66:832–4

    Article  PubMed  CAS  Google Scholar 

  33. Salaffi F, Filosa F, Bugatti L, Maestrini MD. Urticaria as a presenting manifestation of adult-onset Still’ disease. Clin Rheumatol. 2000;19(5):389–91

    Article  PubMed  CAS  Google Scholar 

  34. Bachmeyer C, Blum L, Petitjean B, Kemiche F, Roujeau JC, Pertuiset E. Vesiculopustules in adult-onset Still’ disease. J Am Acad Dermatol. 2006;54 5 Suppl:S247–8

    Article  PubMed  Google Scholar 

  35. Elezoglou AV, Giamarelos-Bourboulis E, Katsilambros N, Sfikakis PP. Cutaneous vasculitis associated with mixed cryoglobulinemia in adult Still’ disease. Clin Exp Rheumatol. 2003;21(3): 405–6

    PubMed  CAS  Google Scholar 

  36. Falcini F, Tacetti G, Ermini M, Trapani S, Calzolari A, Franchi A, Cerinic MM. Methotrexate-associated appearance and rapid progression of rheumatoid nodules in systemic-onset juvenile rheumatoid arthritis. Arthritis Rheum. 1997;40(1):175–8

    Article  PubMed  CAS  Google Scholar 

  37. Lee JY, Yang CC, Hsu MM. Histopathology of persistent papules and plaques in adult-onset Still’ disease. J Am Acad Dermatol. 2005;52(6):1003–8

    Article  PubMed  Google Scholar 

  38. Lubbe J, Hofer M, Chavaz P, Saurat JH, Borradori L. Adult-onset Still’ disease with persistent plaques. Br J Dermatol. 1999;141(4):710–3

    Article  PubMed  CAS  Google Scholar 

  39. Tomaru K, Nagai Y, Ohyama N, Hasegawa M, Endo Y, Tamura A, Ishikawa O. Adult-onset Still’ disease with prurigo pigmentosa-like skin eruption. J Dermatol. 2006;33(1):55–8

    Article  PubMed  Google Scholar 

  40. Welsh B, Tate B. Schnitzler’ syndrome: report of a case with progression to Waldenstrom’ macroglobulinemia. Australas J Dermatol. 1999;40(4):201–3

    Article  PubMed  CAS  Google Scholar 

  41. Janier M, Bonvalet D, Blanc MF, Lemarchand F, Cavelier B, Ribrioux A, Civatte J. Chronic urticaria and macroglobulinemia (Schnitzler’ syndrome): report of two cases. JAAD 1989; 20(2):206–11

    Article  CAS  Google Scholar 

  42. Dinarello CA. Blocking IL-1 in systemic inflammation. J Exp Med. 2005;201(9):1355–9

    Article  PubMed  CAS  Google Scholar 

  43. Church LD, Churchman SM, Hawkins PN, McDermott MF. Hereditary auto-inflammatory disorders and biologics. Springer Semin Immunopathol. 2006;27(4):494–508

    Article  PubMed  CAS  Google Scholar 

  44. Hoffman HM, Patel DD. Genomic-based therapy: targeting interleukin-1 for autoinflammatory diseases. Arthritis Rheum. 2004;50:345–9

    Article  PubMed  Google Scholar 

  45. De Koning HD, Bodar EJ, Simon A, van der Hilst JC, Netea MG, va der Meer JW. Beneficial response to anakinra and thalidomide in Schnitzler’ syndrome. Ann Rheum Dis. 2006;65(4):542–4

    Article  PubMed  Google Scholar 

  46. Cailliez M, Garaix F, Rousset-Rouiere C, Bruno D, et al Anakinra is safe and effective in controlling hyperimmunoglobulinemia D syndrome-associated febrile crisis. J Inherit Metab Dis. 2006;29(6):763

    Article  PubMed  CAS  Google Scholar 

  47. Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperim-munoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;26(1):13

    Article  Google Scholar 

  48. Simon A, Bodar EJ, van der Hilst JC, van der Meer JW, Fiselier TJ, Cuppen MP, Drenth JP. Beneficial response to interleukin 1 receptor antagonist in TRAPS. Am J Med. 2004;117(3):208–10

    Article  PubMed  CAS  Google Scholar 

  49. Belkhir R, Moulonguet-Doleris L, Hachulla E, Prinseau J, Baglin A, Hanslik T. Treatment of familial Mediterranean fever with anakinra. Ann Intern Med. 2007;146:825–6

    PubMed  Google Scholar 

  50. Calligaris L, Marchetti F, Tommasini A, Ventura A. The efficacy of anakinra in an adolescent with colchicines-resistant familial mediterranean fever. Eur J Pediatr. 2008;167(6):695–6

    Article  PubMed  Google Scholar 

  51. Thornton BD, Hoffman HM, Bhat A, Don BR. Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. Am J Kidney Dis. 2007;49:477–81

    Article  PubMed  Google Scholar 

  52. Mirault T, Launay D, Cuisset L, Hachulla E, Lambert M, Queyrel V, Quemeneur T, Morell-Dubois S, Hatron P-Y. Recovery from deafness in a patient with Muckle-Wells Syndrome treated with anakinra. Arthritis Rheumat. 2006;43(5):1697–700

    Article  Google Scholar 

  53. Rynne M, Maclean C, Bybee A, McDermott MF, Emery P. Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. Ann Rheum Dis. 2006;65:533–4

    Article  PubMed  CAS  Google Scholar 

  54. Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debre M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A. Allogeneic bone marrow transplanation in mevalonic aciduria. NEJM 2007;356:2700–3

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Dermatology, University of California, San Francisco, 1701 Divisadero Street, San Francisco, CA, 94115, USA

    Kanade Shinkai & Kieron S. Leslie

Authors
  1. Kanade Shinkai
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kieron S. Leslie
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Kanade Shinkai .

Editor information

Editors and Affiliations

  1. Department of Dermatology and Allergy Allergy-centre-Charité, Charité-Universitätsmedizin Berlin, Charitéplatz 1, Berlin, 10117, Germany

    Torsten Zuberbier (Prof. Dr. med.) & Marcus Maurer (Prof. Dr. med.) (Prof. Dr. med.) &  (Prof. Dr. med.)

  2. Department of Dermatology, Norfolk and Norwich University Hospital, Norwich, NR4 7UY, United Kingdom

    Clive E. H. Grattan MA, MD, FRCP

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Shinkai, K., Leslie, K.S. (2010). Urticarial Syndromes and Autoinflammation. In: Zuberbier, T., Grattan, C.E.H., Maurer, M. (eds) Urticaria and Angioedema. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-79048-8_12

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-79048-8_12

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-79047-1

  • Online ISBN: 978-3-540-79048-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation