Schnitzler's syndrome: lessons from 281 cases.

Heleen D De Koning

doi:10.1186/2045-7022-4-41

Abstract

Schnitzler’s syndrome is an autoinflammatory disorder characterized by the association of a monoclonal IgM (or IgG) gammopathy, a chronic urticarial rash, and signs and symptoms of systemic inflammation, including fever, arthralgias and bone pain. It was first described in 1972. This review summarizes the clinical features, efficacy of therapies, and follow-up data of the 281 cases that have been reported to date. Also, the results of skin histology, bone imaging, laboratory investigations, and studies of the pathogenesis will be discussed, including the pivotal role of interleukin-1 beta in this disorder.Electronic supplementary materialThe online version of this article (doi:10.1186/2045-7022-4-41) contains supplementary material, which is available to authorized users.

Highlights

Schnitzler’s syndrome (SchS) is an autoinflammatory disease characterized by the association of a monoclonal immunoglobulin M (IgM, or sometimes IgG) gammopathy (M-protein), a chronic urticarial rash, and signs and symptoms of systemic inflammation [1]
Somatic mosaicism of Nucleotide-binding oligomerization domain-like receptor family (NLRP3) was reported in neonatal onset Cryopyrin-associated periodic syndrome (CAPS) patients [170,171,172,173], but there was no significant difference in mutation frequency between several leukocyte subsets and buccal mucosa, which clearly differentiates these patients from the two SchS cases [170]
Since our previous review in 2007, the number of reported SchS cases has tripled due to increasing awareness of the disease and the remarkable efficacy of IL-1 inhibition

Summary

Introduction

Schnitzler’s syndrome (SchS) is an autoinflammatory disease characterized by the association of a monoclonal immunoglobulin M (IgM, or sometimes IgG) gammopathy (M-protein), a chronic urticarial rash, and signs and symptoms of systemic inflammation [1]. The first case was described by the French dermatologist Professor Dr Liliane Schnitzler in 1972 [2]. As the phenotype is rather unspecific and many physicians are not familiar with this syndrome, SchS is highly under-diagnosed. This was underlined by the recent retrospective study at the Mayo Clinic, in which 46 undiagnosed cases were identified by cross-referencing cases from their dysproteinemia database with medical records from all patients with chronic urticaria at that institution [3]. This review summarizes the clinical features, efficacy of therapies, and follow-up data regarding the 281 cases that have been reported to date. The results of skin histology, bone imaging, laboratory investigations, and studies on the pathophysiology will be discussed, including the pivotal role of interleukin-1 beta (IL-1β) in this disorder

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Methods

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Conclusion