Department of Dermatovenereology, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Acta Dermatovenerol Alp Pannonica Adriat. 2022 Mar;31(Suppl):S27-S29.
Schnitzler syndrome is a rare acquired autoinflammatory syndrome. It presents with an urticarial rash and a monoclonal gammopathy, usually of the IgM kappa type. In addition, patients can present with bone and/or joint pain, recurrent fever, asthenia, weight loss, myalgia, headache, lymphadenopathy, hepatomegaly, or splenomegaly. An elevation of blood inflammation markers is commonly found. Skin biopsy of the urticarial rash reveals neutrophilic infiltrate, known as neutrophilic urticarial dermatosis. To confirm the diagnosis, two sets of diagnostic criteria have been established. The syndrome shares many features with other autoinflammatory disorders, such as adult-onset Still's disease and NLRP3-auto-inflammatory disorders (NLRP3-AID, formerly known as cryopyrin-associated periodic syndromes, or CAPS). The pathogenesis of the disease is not yet fully understood; however, it is believed that interleukin (IL)-1β plays a crucial role and explains the excellent effectiveness of IL-1 blocking agents. It is a chronic disease, and some patients develop lymphoproliferative disease, and seldom AA amyloidosis.
希氏综合征是一种罕见的获得性自身炎症综合征。其特征为荨麻疹样皮疹和单克隆丙种球蛋白病，通常为 IgM κ 型。此外，患者还可能出现骨和/或关节疼痛、反复发热、乏力、体重减轻、肌痛、头痛、淋巴结病、肝肿大或脾肿大。常伴有血液炎症标志物升高。荨麻疹样皮疹的皮肤活检显示中性粒细胞浸润，称为中性粒细胞性荨麻疹性皮炎。为了确诊，已经制定了两套诊断标准。该综合征与其他自身炎症性疾病（如成人Still 病和 NLRP3-自身炎症性疾病（NLRP3-AID，以前称为冷球蛋白血症相关周期性综合征或 CAPS））有许多共同特征。疾病的发病机制尚未完全阐明；然而，人们认为白细胞介素（IL）-1β 起着关键作用，并解释了 IL-1 阻断剂的极佳疗效。这是一种慢性疾病，一些患者会发展为淋巴增生性疾病，很少发生 AA 淀粉样变性。
