Cryopyrin相关的围手术期综合征(CAPS)是一种罕见的自身炎症性疾病(AID),由先天免疫基因的遗传变异引起。艾滋病,包括CAPS,介导促炎细胞因子,如白细胞介素(IL)-1和IL-18,并导致严重的全身性炎症。NLRP3基因的功能获得突变,编码蛋白质低温比林,2001年被确定为导致CAPS的原因,此后又发现了几个致病性突变。此外,根据严重程度和症状学确定了其他表型,包括家族性冷自身炎症综合征,Muckle-Wells综合征(MWS),和新生儿发病多系统炎症性疾病(NOMID)/慢性神经皮肤关节综合征(CINCA)。及时诊断CAPS仍然具有挑战性,然而,由于不具体,广泛的临床症状,以IL-1为目标的延迟诊断和治疗导致多器官损伤。另一个复杂的诊断因素是在某些情况下NLRP3基因中存在体细胞镶嵌突变,导致非典型的症状和临床过程。在一项系统评价中,CAPS中体细胞镶嵌突变的频率估计为19%。银屑病是一种慢性炎症性皮肤病,约占全球人口的3%。虽然没有报告显示CAPS和银屑病之间的并发症,这些疾病有几个相似之处和潜在的关系,例如,与正常皮肤相比,银屑病皮肤中Th17细胞的活化和NLRP3基因表达的增加。在这里,我们报告了一例CAPS,原因是体细胞镶嵌突变并伴有复发性环型红斑性牛皮癣。
Cryopyrin-associated periotic syndrome (CAPS) is a rare autoinflammatory disease caused by genetic variants in innate immunity genes. Autoinflammatory diseases, including CAPS, mediate proinflammatory cytokines such as interleukin (IL)-1 and IL-18 and result in severe systemic inflammation. A gain-of-function mutation in the NLR family pyrin domain-containing 3 (NLRP3) gene, which encodes the protein cryopyrin, was identified to be responsible for CAPS in 2001, and since then several additional pathogenic mutations have been found. Moreover, other phenotypes have been identified based on severity and symptomatology, including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease/chronic neurologic cutaneous articular syndrome. Prompt diagnosis of CAPS remains challenging, however, due to unspecific, extensive clinical signs, and delayed diagnosis and treatment targeting IL-1 lead to multiorgan damage. Another factor complicating diagnosis is the existence of somatic mosaic mutations in the NLRP3 gene in some cases, resulting in symptoms and clinical courses that are atypical. The frequency of somatic mosaic mutations in CAPS was estimated to be 19% in a systematic review. Psoriasis is a chronic inflammatory skin disease that affects ∼3% of the global population. Although no
reports have shown complication between CAPS and psoriasis, these diseases have several similarities and potential relationships, for instance activation of T helper 17 cells in the dermis and increased NLRP3 gene expression in psoriatic skin compared with normal skin. Here, we report a
case of CAPS due to a somatic mosaic mutation with recurrent circinate erythematous psoriasis.