Successful treatment of epidermolysis bullosa pruriginosa by dupilumab

作者全名："Wu, Xue-Ge; Yan, Shi; Jiang, Jin-Qiu; Zhou, Tian-Tian; Fang, Xiao; Yang, Huan; Bai, Xiao-Ming; Wang, Hua; Luo, Xiaoyan"

作者地址："[Wu, Xue-Ge; Yan, Shi; Jiang, Jin-Qiu; Zhou, Tian-Tian; Fang, Xiao; Yang, Huan; Bai, Xiao-Ming; Wang, Hua; Luo, Xiaoyan] Chongqing Med Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth & Disorders, Dept Dermatol,Minist Educ,Key Lab Child Dev & Diso, 136 Zhongshan 2nd Rd, Chongqing 400014, Peoples R China; [Wu, Xue-Ge; Yan, Shi; Jiang, Jin-Qiu; Zhou, Tian-Tian; Fang, Xiao; Yang, Huan; Bai, Xiao-Ming; Wang, Hua; Luo, Xiaoyan] Chongqing Key Lab Child Infect & Immun, Chongqing, Peoples R China"

通信作者："Wang, H; Luo, XY (通讯作者)，Chongqing Med Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth & Disorders, Dept Dermatol,Minist Educ,Key Lab Child Dev & Diso, 136 Zhongshan 2nd Rd, Chongqing 400014, Peoples R China."

来源：JOURNAL OF DERMATOLOGY

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000917800900001

JCR分区：Q2

影响因子：3.1

年份：2023

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期号：　

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文献类型：Article; Early Access

关键词：dupilumab; epidermolysis bullosa pruriginosa; treatment; type VII collagen

摘要："Epidermolysis bullosa pruriginosa (EBP) is a rare variant of dystrophic epidermolysis bullosa caused by COL7A1 gene mutation. Intense pruritus and nodular prurigo-like lesions are the main features of the disease. To date, the treatment strategies for this condition are not well established. Recent studies have indicated that type 2 inflammation plays a role in the pathophysiology of EBP, suggesting Th2 cytokines could be potential therapeutic targets. In this prospective case series study, we reported three patients with EBP, diagnosed by clinical manifestations, histopathological evaluations, and genetic sequencing, two of whom were treated with dupilumab for 20 weeks. Results showed that the clinical symptoms, pruritus, and quality of life of the patients were significantly improved, as measured by the Epidermolysis Bullosa Disease Activity and Scarring Index, the Visual Analog Scale, and the Children's Dermatology Life Quality Index. Serum immunoglobulin E levels also fell gradually over the 20-week treatment period. Immunotyping of Th1/2/17 cell subsets in peripheral blood by flow cytometry revealed a higher Th2 but parallel Th1 and Th17 cell subsets in patients compared to healthy controls, and a significant decrease in Th2 and an increase in Th17 cells after dupilumab administration. Of note, after 20 weeks of dupilumab treatment, the expression of type VII collagen in the basement membrane of the skin lesion of the patients significantly increased, which was evidenced by immunofluorescence analysis. No treatment-related adverse events were documented. Taken together, targeting type 2 inflammation with dupilumab may be an effective and safe treatment option for EBP."

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