PDF(Pubmed)
Abstract：
Schnitzler syndrome (SchS) is an autoinflammatory disease that is defined by the presence of 2 obligate criteria; an IgM or IgG monoclonal paraprotein and a chronic urticarial rash. Typically, there is an excellent clinical response to IL-1 antagonism. There are reports in the literature of a variant type of SchS that does not fulfil the 2 obligate criteria but responds to IL-1 blockade. Equally, there are reports of an urticarial rash preceding the development of a paraprotein by several years. We describe 3 cases in this manuscript. The first fits the Strasbourg diagnostic criteria of SchS, Simon and Asli (2013); however, with several decades of diagnostic delay. The second case at initial presentation did not fit the major criteria for SchS; however, later developed a monoclonal IgM. Finally we report, a third case that has not yet been confirmed to have a monoclonal IgM/IgG at the time of writing despite 12 years of symptoms and in whom a somatic autoinflammatory disorder remains within the differential. All cases responded strikingly to anakinra, an IL-1 receptor blocker. We propose a new clinical entity, paraprotein negative IL-1 mediated inflammatory dermatosis (PANID), that may act as a precursor or risk factor for the development of SchS or other autoinflammatory conditions.
摘要：
Schnitzler综合征（SchS）是一种自身炎性疾病，由2个强制性标准定义；IgM或IgG单克隆副蛋白和慢性荨麻疹。通常,对IL-1拮抗作用有很好的临床反应。文献中有关于SchS的变体类型的报道,其不满足2个强制性标准,但响应IL-1阻断。同样,有报道称，在副蛋白出现几年之前，出现了荨麻疹。我们在这篇手稿中描述了3个案例。第一个符合斯特拉斯堡的SchS诊断标准，西蒙和阿斯利(2013);然而，几十年的诊断延迟。最初介绍的第二种情况不符合SchS的主要标准；然而，后来开发了单克隆IgM。最后我们报告，第三例，尽管有12年的症状，但在撰写本文时仍未被证实患有单克隆IgM/IgG，并且其中躯体自身炎症性疾病仍存在差异。所有病例都对Anakinra做出了惊人的反应，IL-1受体阻断剂。我们提出了一个新的临床实体，副蛋白阴性IL-1介导的炎症性皮肤病（PANID），这可能是SchS或其他自身炎症性疾病发展的前兆或危险因素。
