Schnitzler Syndrome in a 27-Year-Old Man: Diagnostic and Therapeutic Dilemma in Adult Auto-Inflammatory Syndromes A Case Report and Literature Review

References

• Bashir M, Bettendorf B, Hariman RA. Rare but fascinating disorder: case collection of patients with Schnitzler syndrome. Case Rep Rheumatol. 2018;7041576. doi:10.1155/2018/704157629707401
   PubMedGoogle Scholar
• Jain T, Offord CP, Kyle RA, Dingli D. Schnitzler syndrome: an under-diagnosed clinical entity. Haematologica. 2013;98(10):1581‐1585. doi:10.3324/haematol.2013.084830
   Web of Science ®Google Scholar
• Palladini G, Merlini G. The elusive pathogenesis of Schnitzler syndrome. Blood. 2018;131(9):944–946. doi:10.1182/blood-2018-01-82486229496698
   PubMed Web of Science ®Google Scholar
• de Koning HD. Schnitzler’s syndrome: lessons from 281 cases. Clin Transl Allergy. 2014;5;4:41. doi:10.1186/2045-7022-4-41
   Web of Science ®Google Scholar
• Schnitzler L, Schubert B, Boasson M, et al. Urticaire chronique, lésions osseuses, macroglobulinémie IgM: maladie de Waldenström. Bull Soc Fr Dermatol Syphiligr. 1974;81:363.
   Google Scholar
• Gusdorf L, Lipsker D. Schnitzler syndrome: a review. Curr Rheumatol Rep. 2017;19(8):46. doi:10.1007/s11926-017-0673-528718061
   PubMed Web of Science ®Google Scholar
• Davis MDP, van der Hilst JCH. Mimickers of urticaria: urticarial vasculitis and autoinflammatory diseases. J Allergy Clin Immunol Pract. 2018;6(4):1162–1170. doi:10.1016/j.jaip.2018.05.00629871797
   PubMed Web of Science ®Google Scholar
• Kim YS, Song YM, Bang CH, et al. Schnitzler syndrome: a case report and review of literature. Ann Dermatol. 2018;30(4):483–485. doi:10.5021/ad.2018.30.4.48330065595
   PubMed Web of Science ®Google Scholar
• Sokumbi O, Drage LA, Peters MS. Clinical and histopathologic review of Schnitzler syndrome: the Mayo clinic experience (19722011). J Am Acad Dermatol. 2012;67(6):1289–1295. doi:10.1016/j.jaad.2012.04.02722627038
   PubMed Web of Science ®Google Scholar
• de Koning HD, Bodar EJ, van der Meer JW, Simon A. Schnitzler Syndrome Study Group. Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum. 2007;37(3):137–148. doi:10.1016/j.semarthrit.2007.04.00117586002
   PubMed Web of Science ®Google Scholar
• Rowczenio DM, Pathak S, Arostegui JI, et al. Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome. Blood. 2018;131(9):974‐981. doi:10.1182/blood-2017-10-810366
   Web of Science ®Google Scholar
• Noster R, de Koning HD, Maier E, Prelog M, Lainka E, Zielinski CE. Dysregulation of proinflammatory versus anti-inflammatory human TH17 cell functionalities in the autoinflammatory Schnitzler syndrome. J Allergy Clin Immunol. 2016t;138(4):1161–1169.e6. doi:10.1016/j.jaci.2015.12.1338.27040374
   PubMed Web of Science ®Google Scholar
• Pathak S, Rowczenio DM, Owen RG, et al. Exploratory study of MYD88 L265P, Rare NLRP3 variants, and clonal hematopoiesis prevalence in patients with Schnitzler syndrome. Arthritis Rheumatol. 2019;71(12):2121–2125. doi:10.1002/art.4103031268627
   PubMed Web of Science ®Google Scholar
• Bonnekoh H, Scheffel J, Wu J, Hoffmann S, Maurer M, Krause K. Skin and systemic inflammation in Schnitzler’s syndrome are associated with neutrophil extracellular trap formation. Front Immunol. 2019;10:546. doi:10.3389/fimmu.2019.0054630967871
   PubMed Web of Science ®Google Scholar
• Migliorini P, Italiani P, Pratesi F, Puxeddu I, Boraschi D. Cytokines and soluble receptors of the interleukin-1 family in Schnitzler syndrome. Scand J Rheumatol. 2019;48(3):235–238. doi:10.1080/03009742.2018.155021030668200
   PubMed Web of Science ®Google Scholar
• Lipsker D, Veran Y, Grunenberger F, Cribier B, Heid E, Grosshans E. The Schnitzler syndrome. Four new cases and review of the literature. Medicine. 2001;80(1):37–44. doi:10.1097/00005792-200101000-0000411204501
   PubMed Web of Science ®Google Scholar
• Simon A, Asli B, Braun-Falco M, et al. Schnitzler’s syndrome: diagnosis, treatment, and follow-up. Allergy. 2013;68(5):562–568. doi:10.1111/all.1212923480774
   PubMed Web of Science ®Google Scholar
• Gusdorf L, Asli B, Barbarot S, et al. Schnitzler syndrome: validation and applicability of diagnostic criteria in real-life patients. Allergy. 2017;72(2):177–182. doi:10.1111/all.1303527564982
   PubMed Web of Science ®Google Scholar
• Gusdorf L, Lipsker D. Neutrophilic urticarial dermatosis: an entity bridging monogenic and polygenic autoinflammatory disorders, and beyond. J Eur Acad Dermatol Venereol. 2020;34(4):685–690. doi:10.1111/jdv.1598431562783
   PubMed Web of Science ®Google Scholar
• Yamaguchi M, Ohta A, Tsunematsu T, et al. Preliminary criteria for classification of adult Still’s disease. J Rheumatol. 1992;19(3):424–430.1578458
   PubMed Web of Science ®Google Scholar
• Bilgin E, Hayran M, Erden A, et al. Proposal for a simple algorithm to differentiate adult-onset Still’s disease with other fever of unknown origin causes: a longitudinal prospective study. Clin Rheumatol. 2019;38(6):1699–1706. doi:10.1007/s10067-019-04455-y30710221
   PubMed Web of Science ®Google Scholar
• Alix L, Néel A, Cador B, et al. Diagnostic value of 18-F fluorodeoxyglucose PET/CT and bone scan in Schnitzler syndrome. Autoimmunity. 2019;52(78):264–271. doi:10.1080/08916934.201931646899
   PubMed Web of Science ®Google Scholar
• Bonnekoh H, Scheffel J, Maurer M, Krause K. Use of skin biomarker profiles to distinguish Schnitzler syndrome from chronic spontaneous urticaria: results of a pilot study. Br J Dermatol. 2018;178(2):561–562. doi:10.1111/bjd.1570528580686
   PubMed Web of Science ®Google Scholar
• Kyle RA, Larson DR, Therneau TM, et al. Long-term follow-up of monoclonal gammopathy of undetermined significance. N Engl J Med. 2018;378(3):241–249. doi:10.1056/NEJMoa170997429342381
   PubMed Web of Science ®Google Scholar
• Chuamanochan M, Weller K, Feist E, et al. State of care for patients with systemic autoinflammatory diseases – results of a tertiary care survey. World Allergy Organ J. 2019;12(3):100019. doi:10.1016/j.waojou.2019.10001930937142
   PubMed Web of Science ®Google Scholar
• Napiórkowska-Baran K, Zalewska J, Jeka S, et al. Determination of antibodies in everyday rheumatological practice. Reumatologia. 2019;57(2):91–99. doi:10.5114/reum.2019.8481431130747
   PubMedGoogle Scholar
• Néel A, Henry B, Barbarot S, et al. Long-term effectiveness and safety of interleukin-1 receptor antagonist (anakinra) in Schnitzler’s syndrome: a French multicenter study. Autoimmun Rev. 2014;13(10):1035–1041. doi:10.1016/j.autrev.2014.08.03125220180
   PubMed Web of Science ®Google Scholar
• Krause K, Tsianakas A, Wagner N, et al. Efficacy and safety of canakinumab in Schnitzler syndrome: a multicenter randomized placebo-controlled study. J Allergy Clin Immunol. 2017;139(4):1311–1320. doi:10.1016/j.jaci.2016.07.04127658762
   PubMed Web of Science ®Google Scholar
• Krause K, Bonnekoh H, Ellrich A, et al. Long-term efficacy of canakinumab in the treatment of Schnitzler syndrome. J Allergy Clin Immunol. 2020; S0091-6749(20)30031–2. doi:10.1016/j.jaci.2019.12.909.
   Web of Science ®Google Scholar
• Claus J, Vanderschueren S. Variable responses to Tocilizumab in four patients with Schnitzler syndrome. J Clin Immunol. 2019;39(4):370–372. doi:10.1007/s10875-019-00644-131111419
   PubMed Web of Science ®Google Scholar
• Vercruysse F, Barnetche T, Lazaro E, et al. Adult-onset Still’s disease biological treatment strategy may depend on the phenotypic dichotomy. Arthritis Res Ther. 2019;21(1):53. doi:10.1186/s13075-019-1838-630755262
   PubMed Web of Science ®Google Scholar
• Gerfaud-Valentin M, Maucort-Boulch D, Hot A, et al. Adult-onset still disease: manifestations, treatment, outcome, and prognostic factors in 57 patients. Medicine. 2014;93(2):91–99. doi:10.1097/MD.000000000000002124646465
   PubMed Web of Science ®Google Scholar
• Colafrancesco S, Priori R, Valesini G, et al. Response to Interleukin-1 Inhibitors in 140 Italian patients with adult-onset still’s disease: a multicentre retrospective observational study. Front Pharmacol. 2017;8:369. doi:10.3389/fphar.2017.0036928659802
   PubMed Web of Science ®Google Scholar
• Zhou S, Qiao J, Bai J, Wu Y, Fang H. Biological therapy of traditional therapy-resistant adult-onset Still’s disease: an evidence-based review. Ther Clin Risk Manag. 2018;24(14):167–171. doi:10.2147/TCRM.S155488
   Web of Science ®Google Scholar
• Ruscitti P, Cipriani P, Liakouli V, et al. Managing adult-onset Still’s disease: the effectiveness of high-dosage of corticosteroids as first-line treatment in inducing the clinical remission. Results from an observational study. Medicine. 2019;98(15):e15123. doi:10.1097/MD.000000000001512330985672
   PubMed Web of Science ®Google Scholar
• Levy R, Gérard L, Kuemmerle-Deschner J, et al.; for PRINTO and Eurofever. Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Ann Rheum Dis. 2015;74(11):2043–2049. doi:10.1136/annrheumdis-2013-204991.25038238
   PubMed Web of Science ®Google Scholar