Nguyen Thi Thuy Trang, Trung Nguyen Kien, Le Nguyen Bang, Tran Thi Minh Tam, Do Tran Hung, Gia Tran Hung
Department of Dermato-Venereology, Faculty of Medicine, Can Tho University of Medicine and Pharmacy, Can Tho, Vietnam.
Can Tho University of Medicine and Pharmacy, Can Tho, Vietnam.
Dermatology. 2024;240(5-6):750-757. doi: 10.1159/000541886. Epub 2024 Oct 8.
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 aimed 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.
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.
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).
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.
脓疱型银屑病是一种罕见且严重的银屑病类型，其特征为在红斑背景上出现无菌性脓疱。该疾病范围从局限性到全身性，后者尤其危及生命且易复发。了解脓疱型银屑病的遗传基础，特别是白细胞介素36受体拮抗剂（IL36RN）突变，对于开发更好的治疗方法至关重要。本研究旨在确定越南芹苴市脓疱型银屑病患者中IL36RN基因突变的患病率和类型，以及它们与临床和副临床特征的关系。
在芹苴皮肤病医院进行了一项横断面研究，纳入了59例根据欧洲银屑病关节炎研究组（ERASPEN）和日本皮肤病协会标准诊断为泛发性脓疱型银屑病（GPP）的患者。收集了人口统计学、临床和实验室特征数据。通过基因组DNA测序鉴定IL36RN基因突变。进行统计分析以探讨IL36RN突变与临床特征之间的关联。
该研究包括59名参与者，以女性为主（69.5%），平均年龄为39.12岁。很大一部分（83.1%）有银屑病病史，且频繁复发（94.9%）。鉴定出的最常见的IL36RN突变是p.Arg10ArgfsX1，存在于44.1%的患者中。其他突变包括p.Pro76Leu（20.3%）和p.Arg102Trp（1.7%）。有IL36RN突变的患者更年轻且疾病发病更早。发现IL36RN突变与发热（比值比[OR]=11，p<0.0001）和地图舌（OR=14.67，p<0.0001）等临床特征之间存在显著关联。
我们的研究揭示了越南脓疱型银屑病患者中IL36RN突变的高患病率，特别是p.Arg10ArgfsX1，这些突变与发热和地图舌等临床特征密切相关。
