PDF(Pubmed)
Abstract：
Schnitzler syndrome is a rare autoinflammatory disorder characterized by urticarial rash, joint pain, recurrent fever, leucocytosis, elevated C-reactive protein (CRP) and serum amyloid A (SAA), and monoclonal IgM or IgG gammopathy. According to the Strasbourg criteria, both urticarial rash and gammopathy are mandatorily required for the diagnosis of Schnitzler\'s syndrome. However, incomplete variants lacking either skin symptoms or monoclonal gammopathy have also been described. Here, we report a case in which the diagnosis of Schnitzler-like syndrome was made despite the absence of gammopathy, based on neutrophilic dermal inflammation, episodic and excessive increase in inflammatory parameters, and prompt response to anakinra, a soluble IL1 receptor antagonist (sIL-1RA). In addition, we detected neutrophil epitheliotropism, which is highly suggestive of autoinflammatory disease. Using whole-exome sequencing, we were unable to find a causative pathogenic mutation but did find several mutations possibly related to the inflammatory processes in this patient. This and other cases highlight that the existing Strasbourg criteria are too strict to capture Schnitzler-like syndromes that may respond well and rapidly to IL1 inhibition. Recurrent episodes of disease with normalization of inflammatory symptoms in the interval, rapid response to anakinra, and neutrophilic epitheliotropism in a lesional skin biopsy may help confirm the diagnosis of Schnitzler-like syndrome.
摘要：
Schnitzler综合征是一种罕见的自身炎症性疾病，以荨麻疹为特征，关节痛,反复发烧,白细胞增多症,升高的C反应蛋白（CRP）和血清淀粉样蛋白A（SAA），和单克隆IgM或IgG丙种球蛋白病。根据斯特拉斯堡的标准,荨麻疹皮疹和丙种球蛋白病都是Schnitzler综合征诊断所必需的。然而,还描述了缺乏皮肤症状或单克隆丙种球蛋白病的不完整变体。这里,我们报告了一个病例，尽管没有丙种球蛋白病，但仍诊断为Schnitzler样综合征，基于中性粒细胞性皮肤炎症，炎症参数的偶发性和过度增加，对阿纳金拉的迅速反应，可溶性IL1受体拮抗剂（sIL-1RA）。此外,我们检测到嗜中性粒细胞上皮性,高度提示自身炎症性疾病。使用全外显子组测序，我们未能发现致病突变,但在该患者中发现了几个可能与炎症过程相关的突变.这种情况和其他情况突出表明，现有的斯特拉斯堡标准过于严格，无法捕获可能对IL1抑制反应良好且迅速的Schnitzler样综合征。疾病反复发作，炎症症状在间隔内正常化，对阿纳金拉的快速反应，病灶皮肤活检中的嗜中性粒细胞上皮性可能有助于确认Schnitzler样综合征的诊断。
