Dermatol. praxi. 2017;11(4):192-198 | DOI: 10.36290/der.2017.035

Skin manifestations in autoinflammatory diseases

MUDr. Šárka Fingerhutová, prof. MUDr. Pavla Doležalová, CSc.
Klinika dětského a dorostového lékařství VFN a 1. LF UK v Praze

Autoinflammatory diseases have become an important differential diagnostic entity along with other diagnoses accompaniednot only by fever, such as infections, immunodeficiencies, idiopathic inflammatory conditions, and hemato-oncologic diseases.The term autoinflammatory characterizes the etiologic background of these diseases in which episodic activation of proinflammatorymechanisms is caused by impaired regulation of innate immunity processes. This review article describes the individualconditions with an emphasis on their skin manifestations. The skin manifestations of several of the above-mentioned diseasescan be a significant clue in diagnosing them correctly.

Keywords: autoinflammatory disease, periodic fever, inflammasome

Published: November 1, 2017  Show citation

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Fingerhutová Š, Doležalová P. Skin manifestations in autoinflammatory diseases. Dermatol. praxi. 2017;11(4):192-198. doi: 10.36290/der.2017.035.
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    References

    1. 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: 133-144. Go to original source... Go to PubMed...
    2. Kanazawa N, et al. Autoinflammatory syndromes with a dermatological perspective. J Dermatol 2007; 34(9): 601-618. Go to original source... Go to PubMed...
    3. Vitale A, et al. Biological treatments: New weapons in the management of monogenic autoinflammaotry disorders. Mediators Inflamm. 2013; 2013: 939847. Go to original source... Go to PubMed...
    4. Seijo D, et al. Autoinflammatory syndromes for the dermatologist. Clin Dermatol. 2014; 32(4): 488-501. Go to original source... Go to PubMed...
    5. Meiorin SM, et al. Autoinflammatory diseases in pediatrics. Arch Argent Pediatr. 2013; 111(3): 237-243. Go to original source... Go to PubMed...
    6. The international FMF COnsortium. Ancien missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997; 90: 797-807. Go to original source... Go to PubMed...
    7. Falco MB, et al. Skin manifestations in autoinflammatory syndromes. J Dtsch Dermatol Ges 2011; 9(3): 232-246. Go to original source... Go to PubMed...
    8. Federici S, et al. The autoinflammatory diseases. Swiss Med Wkly. 2012 Jun 19; 142: w13602. Go to original source... Go to PubMed...
    9. ter Haar N, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis 2015; 74: 1636-1644. Go to original source... Go to PubMed...
    10. Lachmann HJ. Clinical immunology review series: An approach to the patient with a periodic fever syndrome. Clin Exp Immunol 2011; 165(3): 301-309. Go to original source... Go to PubMed...
    11. Smith EJ, et al. Clinical, Molecular, and Genetic Characteristics od PAPA syndome: A Review. Curr Genomics. 2010; 11(7): 519-527. Go to original source... Go to PubMed...
    12. Nguyen T, et al. Autoinflammatrion: From monogenic syndromes to common skin diseases. J Am Acad Dermatol 2013; 68: 834-853. Go to original source... Go to PubMed...
    13. Touitou I, et al. The expanding spectrum of rare monogenic autoinflammatory diseases. Orphanet J Rare Dis. 2013; 8: 162. Go to original source... Go to PubMed...
    14. Rukavina I. SAPHO syndroem: a review. J Child Orthop. 2015; 9(1): 19-27. Go to original source... Go to PubMed...
    15. Caso F, et al. Autoinflammatory granulomatous diseases: from Blau syndrome and early onset sarcoidosis to NOD2-mediated disease and Crohn's disease. RMD Open. 2015; 1(1): e000097. Go to original source... Go to PubMed...
    16. https://en.wikipedia.org/wiki/PSMB8
    17. Liu Y, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med 2014; 371(6): 507-518. Go to original source... Go to PubMed...
    18. Elkan P, et al. Mutant Adenosine Deaminase 2 in a polyarteritis nodosa vasculopathy. N Eng J Med 2014; 370: 921-931. Go to original source... Go to PubMed...

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