Wang Yirong, Cheng Ruhong, Lu Zhiyong, Guo Yifeng, Yan Ming, Liang Jianying, Huang Peichen, Li Ming, Yao Zhirong
Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
J Dermatol Sci. 2017 Mar;85(3):235-240. doi: 10.1016/j.jdermsci.2016.11.008. Epub 2016 Dec 13.
IL36RN mutation has been identified as one pathogenesis of generalized pustular psoriasis, but the existence of GPP patients without mutation makes this controversial.
Our study aimed at assessing the differences in clinical profiles of children with GPP, with and without IL36RN mutation.
An ambispective case series study involved review of the records of 66 childhood patients with pediatric-onset GPP and without previous psoriasis vulgaris.
c.115+6T>C was the most common mutation in this Chinese population with GPP alone. The age at onset was nearly halved in the homozygotes/compound heterozygotes than in IL36RN-negative patients. Besides a more severe inflammatory progression, three minor signs could prioritize patients with GPP for IL36RN screening (confluent lakes of pus (P=0.002), perianal erosion (P=0.014), and flexural erosion (P=0.007)). More patients with the pathogenic mutation converted to ACH than those without mutation (χ2=4.773, P=0.029). Children with GPP with or without IL36RN mutation responded well to oral low-dose acitretin, but IL36RN-positive cases suffered a much higher half-year recurrence rate after withdrawl of acitretin treatment(χ2=10.370, P=0.001).
Specific clinical features can remind dermatologists of the necessity of sequencing diagnosis. The mild pustular phenotype of those without mutation may imply the possible role of the epigenetic changes of IL36RN, or other IL36-blockers in the pathogenesis. Pediatric patients with GPP alone, both with and without IL36RN mutation responded well to low-dose acitretin.
IL36RN 突变已被确定为泛发性脓疱型银屑病的一种发病机制，但无突变的泛发性脓疱型银屑病患者的存在使这一观点存在争议。
我们的研究旨在评估有无 IL36RN 突变的泛发性脓疱型银屑病儿童的临床特征差异。
一项回顾性和前瞻性相结合的病例系列研究，涉及对 66 例儿童期起病、既往无寻常型银屑病的泛发性脓疱型银屑病患者的病历进行回顾。
c.115+6T>C 是该中国泛发性脓疱型银屑病人群中最常见的突变。纯合子/复合杂合子患者的发病年龄比 IL36RN 阴性患者几乎减半。除了更严重的炎症进展外，有三个轻微体征可优先对泛发性脓疱型银屑病患者进行 IL36RN 筛查（融合性脓疱湖（P=0.002）、肛周糜烂（P=0.014）和屈侧糜烂（P=0.007））。与无突变患者相比，有致病突变的患者转化为急性泛发性脓疱型银屑病的更多（χ2=4.773，P=0.029）。有无 IL36RN 突变的泛发性脓疱型银屑病儿童对口服低剂量阿维 A 反应良好，但 IL36RN 阳性病例在阿维 A 治疗停药后的半年复发率要高得多（χ2=10.370，P=0.001）。
特定的临床特征可提醒皮肤科医生进行测序诊断的必要性。无突变者的轻度脓疱型表型可能意味着 IL36RN 的表观遗传变化或其他 IL36 阻断剂在发病机制中的可能作用。仅患有泛发性脓疱型银屑病的儿科患者，无论有无 IL36RN 突变，对低剂量阿维 A 反应良好。
