Supplementary Material for: IL36RN Mutations and Correlated Characteristics in Generalized Pustular Psoriasis Patients in Can Tho City, Vietnam: A Cross-sectional study

Introduction: Pustular psoriasis is a rare and severe form of psoriasis characterized by sterile pustules on an erythematous background. The disease ranges from localized to generalized forms, with the latter being particularly life-threatening and recurrent. Understanding the genetic basis of pustular psoriasis, particularly IL36RN mutations, is crucial for developing better treatments. This study aims to determine the prevalence and types of IL36RN gene mutations and their relationship with clinical and paraclinical features in patients with pustular psoriasis in Can Tho City, Vietnam. Methods: A cross-sectional study was conducted at Can Tho Dermatology Hospital involving 59 patients diagnosed with generalized pustular psoriasis (GPP) according to ERASPEN and Japanese Dermatological Association criteria. Data on demographic, clinical, and laboratory characteristics were collected. IL36RN gene mutations were identified through genomic DNA sequencing. Statistical analyses were performed to explore associations between IL36RN mutations and clinical features. Results: The study included 59 participants, predominantly female (69.5%), with an average age of 39.12 years. A significant proportion (83.1%) had a history of psoriasis, with frequent recurrences (94.9%). The most common IL36RN mutation identified was p.Arg10ArgfsX1, present in 44.1% of patients. Other mutations included p.Pro76Leu (20.3%) and p.Arg102Trp (1.7%). Patients with IL36RN mutations were younger and had an earlier disease onset. Significant associations were found between IL36RN mutations and clinical features such as fever (OR = 11, p < 0.0001) and geographic tongue (OR = 14.67, p < 0.0001). Conclusion: Our study reveals a high prevalence of IL36RN mutations, particularly p.Arg10ArgfsX1, in Vietnamese pustular psoriasis patients, strongly associating these mutations with clinical features like fever and geographic tongue.

引言：脓疱型银屑病（Pustular psoriasis）是一种罕见且重症的银屑病亚型，以红斑基底上出现无菌脓疱为特征。该疾病可分为局限型与泛发型两类，其中泛发型尤为危及生命且易复发。阐明脓疱型银屑病的遗传基础，尤其是白介素36RN基因（IL36RN）突变，对开发更优治疗方案至关重要。本研究旨在明确越南芹苴市脓疱型银屑病患者中IL36RN基因突变的患病率、类型，及其与临床及辅助临床特征的关联。
方法：本研究为横断面研究，于芹苴皮肤病医院开展，共纳入59名符合ERASPEN及日本皮肤病学会诊断标准的泛发型脓疱型银屑病（GPP）患者。收集患者的人口统计学、临床及实验室特征数据，通过基因组DNA测序鉴定IL36RN基因突变，并采用统计学分析探索IL36RN基因突变与临床特征之间的关联。
结果：本研究共纳入59名受试者，以女性患者为主，占比69.5%，平均年龄为39.12岁。83.1%的患者存在银屑病病史，其中94.9%的患者复发频繁。最常见的IL36RN突变为p.Arg10ArgfsX1，在44.1%的患者中检出；其他突变包括p.Pro76Leu（20.3%）与p.Arg102Trp（1.7%）。携带IL36RN基因突变的患者年龄更小，发病更早。研究发现IL36RN基因突变与发热（比值比（Odds Ratio，OR）=11，P<0.0001）、地图舌（OR=14.67，P<0.0001）等临床特征存在显著关联。
结论：本研究显示，越南脓疱型银屑病患者中IL36RN基因突变（尤其是p.Arg10ArgfsX1）的患病率较高，且此类突变与发热、地图舌等临床特征存在显著关联。