Autoinflammatory Syndromes

Overview

Journal Dermatol Clin

Specialty Dermatology

Date 2013 Jul 6

PMID 23827249

Citations 15

Authors

John J Cush

Affiliations

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Abstract

Autoinflammatory syndromes comprise a diagnostically challenging group of systemic inflammatory disorders uniquely related by (1) dysregulation of innate immunity, (2) inflammasome activation, (3) dramatic clinical features (high fevers, neutrophilic rashes, and bone or synovial involvement), (4) impressive acute phase responses, and (5) effective treatment with cytokine inhibitors. This review details some of the more common autoinflammatory disorders, their distinguishing features and dermatologic manifestations, and how an accurate diagnosis can be established in patients presenting with periodic or intermittent febrile disorders.

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References

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. 2011; 66(3):409-15. DOI: 10.1016/j.jaad.2010.12.025. View

Hoffman H, Patel D . Genomic-based therapy: targeting interleukin-1 for autoinflammatory diseases. Arthritis Rheum. 2004; 50(2):345-9. DOI: 10.1002/art.20032. View

van der Hilst J, Bodar E, Barron K, Frenkel J, Drenth J, van der Meer J . Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore). 2008; 87(6):301-310. DOI: 10.1097/MD.0b013e318190cfb7. View

Smith E, Allantaz F, Bennett L, Zhang D, Gao X, Wood G . Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review. Curr Genomics. 2011; 11(7):519-27. PMC: 3048314. DOI: 10.2174/138920210793175921. View

Bulua A, Mogul D, Aksentijevich I, Singh H, He D, Muenz L . Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study. Arthritis Rheum. 2011; 64(3):908-13. PMC: 3882089. DOI: 10.1002/art.33416. View

Petryna O, Cush J, Efthimiou P . IL-1 Trap rilonacept in refractory adult onset Still's disease. Ann Rheum Dis. 2012; 71(12):2056-7. DOI: 10.1136/annrheumdis-2012-201409. View

Toro J, Aksentijevich I, Hull K, Dean J, Kastner D . Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch Dermatol. 2000; 136(12):1487-94. DOI: 10.1001/archderm.136.12.1487. View

Kuemmerle-Deschner J, Koitschev A, Ummenhofer K, Hansmann S, Plontke S, Koitschev C . Hearing loss in Muckle-Wells syndrome. Arthritis Rheum. 2013; 65(3):824-31. DOI: 10.1002/art.37810. View

Ozkurede V, Franchi L . Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes. Clin Exp Immunol. 2012; 167(3):382-90. PMC: 3374270. DOI: 10.1111/j.1365-2249.2011.04535.x. View

10.

Cush J . Adult-onset Still's disease. Bull Rheum Dis. 2000; 49(6):1-4. View

11.

Kyvsgaard N, Mikkelsen T, Korsholm J, Veirum J, Herlin T . Periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis. Dan Med J. 2012; 59(7):A4452. View

12.

Zeft A, Spalding S . Autoinflammatory syndromes: fever is not always a sign of infection. Cleve Clin J Med. 2012; 79(8):569-81. DOI: 10.3949/ccjm.79a.11184. View

13.

Lindor N, Arsenault T, Solomon H, Seidman C, McEvoy M . A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc. 1997; 72(7):611-5. DOI: 10.1016/S0025-6196(11)63565-9. View

14.

Dale D, Welte K . Cyclic and chronic neutropenia. Cancer Treat Res. 2010; 157:97-108. DOI: 10.1007/978-1-4419-7073-2_6. View

15.

Fietta P . Autoinflammatory diseases: the hereditary periodic fever syndromes. Acta Biomed. 2004; 75(2):92-9. View

16.

Yamaguchi M, Ohta A, Tsunematsu T, Kasukawa R, Mizushima Y, Kashiwagi H . Preliminary criteria for classification of adult Still's disease. J Rheumatol. 1992; 19(3):424-30. View

17.

Long S . Distinguishing among prolonged, recurrent, and periodic fever syndromes: approach of a pediatric infectious diseases subspecialist. Pediatr Clin North Am. 2005; 52(3):811-35, vii. DOI: 10.1016/j.pcl.2005.02.007. View

18.

Lainka E, Bielak M, Lohse P, Timmann C, Stojanov S, von Kries R . Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population. Eur J Pediatr. 2012; 171(12):1775-85. DOI: 10.1007/s00431-012-1803-8. View

19.

Menu P, Vince J . The NLRP3 inflammasome in health and disease: the good, the bad and the ugly. Clin Exp Immunol. 2011; 166(1):1-15. PMC: 3193914. DOI: 10.1111/j.1365-2249.2011.04440.x. View

20.

Besada E, Nossent H . Dramatic response to IL1-RA treatment in longstanding multidrug resistant Schnitzler's syndrome: a case report and literature review. Clin Rheumatol. 2010; 29(5):567-71. DOI: 10.1007/s10067-010-1375-9. View