Gu Mengjiao, Huang Hanjing, Xiao Zhanshuo, Meng Fanzhang, Sheng Han, Lin Zhimin, Li Chen, Wu Yuanhao
First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, People's Republic of China.
National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, People's Republic of China.
Psoriasis (Auckl). 2025 Mar 26;15:67-70. doi: 10.2147/PTT.S498720. eCollection 2025.
In our manuscript, we present a case study of siblings with Generalized Pustular Psoriasis (GPP) and Acrodermatitis Continua of Hallopeau (ACH), both harboring IL36RN gene mutations. The 3-year-old proband exhibited systemic pustules leading to a GPP diagnosis, while his 6-year-old sister developed nail ulcers and subungual pustules characteristic of ACH. Despite standard treatments, their conditions were refractory. Genetic analysis revealed a homozygous splice variant c.115+6 T>C, with heterozygous parents. This case underscores the role of IL36RN mutations in pustular psoriasis and supports ACH as a localized form of the disease. The distinct subtypes in siblings with identical mutations suggest a complex pathogenesis influenced by additional factors. Our findings highlight the importance of genetic testing in pustular psoriasis and warrant further investigation into the phenotypic variability of IL36RN-related disease.
在我们的论文中，我们展示了一个患有泛发性脓疱型银屑病（GPP）和Hallopeau连续性肢端皮炎（ACH）的兄妹的病例研究，他们都携带IL36RN基因突变。3岁的先证者出现全身性脓疱，从而被诊断为GPP，而他6岁的妹妹则出现了ACH特有的甲床溃疡和甲下脓疱。尽管接受了标准治疗，他们的病情仍难以治愈。基因分析发现了一个纯合剪接变体c.115+6 T>C，其父母为杂合子。该病例强调了IL36RN突变在脓疱型银屑病中的作用，并支持ACH作为该疾病的一种局限性形式。具有相同突变的兄妹中的不同亚型表明存在受其他因素影响的复杂发病机制。我们的研究结果突出了基因检测在脓疱型银屑病中的重要性，并值得对IL36RN相关疾病的表型变异性进行进一步研究。
