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A case of Schnitzler syndrome complicated by rheumatoid arthritis treated with methotrexate.

Schnitzler syndrome (SchS) is a rare autoinflammatory disorder characterised by recurrent urticaria, monoclonal gammopathy, fever, and arthralgia. We herein report a case of SchS complicated by rheumatoid arthritis (RA). A 78-year-old man presented to our hospital with fever, myalgia, and urticaria, each lasting for ~1 week over the past 8 years. He was diagnosed with SchS based on monoclonal immunoglobulin G gammopathy, chronic urticaria, an intermittent fever, arthritis, high inflammatory markers, and neutrophil infiltration in the dermis on skin biopsy. Although colchicine improved the symp…

Schnitzler's syndrome associated with pancreatitis: a disease of IL-1 dysregulation.

Schnitzler's syndrome (SS) is a rare inflammatory disease of unknown origin characterized by chronic urticaria and monoclonal gammopathy (usually IgM) associated with at least two of the following components: fever, arthralgia or arthritis, bone pain, hepato- and/or splenomegaly, lymphadenopathy, elevated erythrocyte sedimentation rate, leukocytosis, and/or abnormal findings on bone morphological investigations. To date, about 100 cases have been described with only 4 being reported in the USA. The mean time to diagnosis from the onset of disease is 5.4 years, given the varied symptoms with wh

Chronic urticaria and macroglobulinemia (Schnitzler's syndrome): report of two cases.

Two cases of chronic urticaria associated with macroglobulinemia are reported, and the characteristics of 13 other cases are reviewed. This entity was described by Schnitzler in 1974 and has the following characteristics: chronic nonpruritic urticaria with leukocytoclastic vasculitis, bone pains with hyperostosis, intermittent fever, and a monoclonal IgM gammopathy. Liver, lymph node, and spleen enlargement may occur. Criteria for the diagnosis of Waldenström's disease are lacking (IgM level less than 10 gm/L, no overt lymphoid proliferation in bone marrow). Other immunologic findings (complem

Case report: Therapeutic use of bortezomib in a patient with Schnitzler syndrome.

Schnitzler syndrome (SchS) is a rare acquired systemic autoinflammatory disorder, characterized by chronic urticarial rash and immunoglobulin M (IgM) monoclonal gammopathy. Anti-interleukin-1 (IL-1) therapies have been shown to be more effective in managing the clinical symptoms of SchS compared to anti-IL-6 therapies. In this case report, we present a male patient with urticarial rash, fever, and arthralgia. Laboratory tests identified the presence of IgMκ monoclonal protein, and the absence of IL-1β in serum. Whole exome sequencing (WES) did not reveal any pathological variants associated wi…

Schnitzler syndrome: validation and applicability of diagnostic criteria in real-life patients.

BACKGROUND: Schnitzler syndrome is characterized by an urticarial rash, a monoclonal gammopathy, and clinical, histological, and biological signs of neutrophil-mediated inflammation. The aim of this study was to assess the applicability and validity of the existing diagnostic criteria in real-life patients. METHODS: This multicentric study was conducted between 2009 and 2014 in 14 hospitals in which patients with Schnitzler syndrome or controls with related disorders were followed up. We compared the sensitivities and specificities and calculated the positive and negative predictive values of…

Schnitzler Syndrome: the paradigm of an acquired adult-onset auto-inflammatory disease.

Schnitzler Syndrome is a rare acquired auto-inflammatory syndrome defined by an urticarial eruption and a monoclonal gammopathy, mainly of the IgM kappa isotype. It shares many clinical and biological features with other autoinflammatory disorders such as NLRP3-auto-inflammatory disorders (NLRP3-AID, formerly cryopyrin associated periodic syndromes or CAPS) or adult-onset Still disease (AOSD). Hence, recurrent fever, urticarial rash with a neutrophilic infiltrate on skin biopsy (i.e. neutrophilic urticarial dermatosis or NUD) and a significant elevation of blood inflammation markers are common…

Efficacy and safety of canakinumab treatment in schnitzler syndrome: A systematic literature review.

BACKGROUND: Schnitzler syndrome is a rare autoinflammatory disorder characterized by chronic urticarial rash and a monoclonal gammopathy, accompanied by intermittent fever, bone pain, and arthralgia or arthritis. Canakinumab is a fully human monoclonal anti-interleukin-1β (IL-1β) antibody proven to be effective in IL-1 driven autoinflammatory disorders. METHODS: We systematically searched PubMed and Embase to include all types of studies on canakinumab treatment in Schnitzler syndrome published until March 16, 2020. RESULTS: Since 2011, 7 publications have been reported on canakinumab treatm…

Correlative bone imaging in a case of Schnitzler's syndrome and brief review of the literature.

UNLABELLED: Schnitzler's syndrome is a rare disease characterized by a monoclonal IgM (or IgG) paraprotein, a nonpruritic urticarial skin rash, and 2 (or 3) of the following: recurrent fever, objective signs of abnormal bone remodeling, elevated CRP level or leukocytosis, and a neutrophilic infiltrate on skin biopsy. It responds well to treatment with the interleukine-1-inhibitor anakinra. We report the bone scintigraphy and MRI findings in a 45 years old man with this syndrome and compare them with data from the literature. CONCLUSION: None of the imaging findings are specific, but they lead

Canakinumab as effective therapy in anakinra-refractory Schnitzler syndrome: a case-based review.

Schnitzler syndrome is a rare autoinflammatory syndrome caused by a dysregulation of the interleukin-1β signalling pathway. Symptoms tend to appear in middle age and include urticariform skin lesions, fever, bone pain, lymphadenopathy and IgM monoclonal gammopathy. Interleukin-1 (IL-1) targeted therapy constitutes the basis for treatment and can lead to complete resolution of symptoms. We report a case of Schnitzler syndrome in a 49-year-old man refractory to anakinra and subsequently treated successfully with canakinumab.

Background and Clinical Features of a Unique and Mysterious Autoinflammatory Disease, Schnitzler Syndrome.

Schnitzler syndrome is a unique autoinflammatory disease, of which 747 cases have been described worldwide to date. The main features of the syndrome are a triad of recurrent urticaria, monoclonal IgM gammopathy, systemic inflammation associated with recurrent fever, joint and bone pain, and atypical bone remodeling (osteosclerosis). The abnormal activation of the NLRP3 inflammasome produces IL-1, which drives the disease pathology, but it also involves IL-6 and IL-18. Unlike other autoinflammatory diseases, Schnitzler syndrome lacks evidence of the gene divergence causing the abnormal activat…

Hyperimmunoglobulinemia E and efficacy of elimination diet in two patients with Schnitzler syndrome.

BACKGROUND: Schnitzler syndrome (SS) is a rare clinical entity characterized by chronic recurrent urticarial rash, monoclonal IgM gammopathy, intermittent fever and other symptoms. In this report, we present the cases of two patients with SS: a male and a female aged 50 and 49 years, respectively. Both patients had hyperimmunoglobulinemia E and showed good response to elimination diet. METHODS: The patients had chronic urticaria, IgM gammopathy and an elevation of the serum levels of inflammation markers. Total IgE levels were found to be high (2000 U/ml and 540 U/ml, respectively). No underl…

A case of Schnitzler's syndrome without monoclonal gammopathy successfully treated with canakinumab.

BACKGROUND: Schnitzler's syndrome (SchS) is a rare autoinflammatory syndrome with diagnostic challenge and be characterized by chronic urticaria, a monoclonal gammopath, periodic fever and bone pain. In addition to the monoclonal gammopathy, bone abnormalities are often found at the site of bone pain in patients with SchS. The remarkable efficacy of interleukin-1 (IL-1) inhibition was also demonstrated in this syndrome. CASE PRESENTATION: We describe a case of refractory chronic urticaria presenting with clinical manifestations consistent with SchS without monoclonal gammopathy. A 43-year-old

Diagnostic value of 18-F fluorodeoxyglucose PET/CT and bone scan in Schnitzler syndrome.

Introduction: Schnitzler syndrome is an auto-inflammatory disease defined by chronic urticarial eruption and monoclonal gammopathy. 18F fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) is often performed, but its utility in Schnitzler syndrome has not been specifically investigated. The aim of this study was to determine whether PET/CT is informative in the diagnosis and follow-up of Schnitzler syndrome relative to other imaging techniques, including bone scans.Patients and methods: Patients of this study were selected from the French cohort established by Néel et a…

Schnitzler's Syndrome: A Diagnostic Consideration in Evaluating the Constellation of Monoclonal Gammopathy and Chronic Urticaria.

Schnitzler's syndrome is a rare clinical entity characterized by intermittent, non-pruritic urticarial rash, fevers, arthralgias, myalgias and monoclonal gammopathy, most commonly of the immunoglobulin M (IgM) subtype. Schnitzler's syndrome should be considered in the differential diagnosis of fever of unknown origin. We report a case of a 56-year-old healthy Caucasian female, who initially presented to the primary care physician's office with complaints of severe generalized fatigue and myalgias involving thighs and calves. Patient subsequently underwent extensive rheumatologic workup, and wa

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… Based on the results of the above workup a diagnosis of Schnitzler’s syndrome was made. Patient was started on anakinra 100 mg subcutaneously daily for Schnitzler’s syndrome, and within 24 h of starting treatment she had complete resolution of fevers, arthralgia, myalgia and rash. … References 1 Simon A Asli B Braun-Falco M De Koning H Fermand JP Grattan C Krause K et al Schnitzler's syndrome: diagnosis, treatment, and follow-up Allergy 2013 68 5 562 568 10.1111/all.12129 23480774 2 Lipsker D The Schnitzler syndrome Orphanet J Rare Dis 2010 5 38 10.1186/1750-1172-5-38 21143856 …

Skin and Systemic Inflammation in Schnitzler's Syndrome Are Associated With Neutrophil Extracellular Trap Formation.

Schnitzler's syndrome is a rare autoinflammatory disorder characterized by interleukin-1ß-mediated and neutrophil-dominated inflammation. Neutrophil extracellular traps (NETs) are web-like structures of decondensed chromatin, histones, and antimicrobial peptides released by neutrophils. NETs were initially described in the context of pathogen defense but are also involved in autoimmune-mediated skin diseases. Here, we assessed the role of neutrophil extracellular trap formation (NETosis) in Schnitzler's syndrome. Immunofluorescence co-staining of myeloperoxidase and subnucleosomal complex was