CARD14相关丘疹鳞屑性皮疹的临床特征及司库奇尤单抗的疗效评估
Clinical Characteristics of CARD14-Associated Papulosquamous Eruption and Evaluation of Therapeutic Efficacy of Secukinumab.
作者信息
Zhao Xinrong, Wang Zhaoyang, Chen Yunliu, Xiang Xin, Liu Yuanxiang, Miao Chaoyang, Xu Zigang
机构信息
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health and KeyLaboratory of Major Diseases in Children, Ministry of Education, Beijing, People's Republic of China.
出版信息
J Inflamm Res. 2025 May 23;18:6597-6605. doi: 10.2147/JIR.S519554. eCollection 2025.
BACKGROUND
-associated papulosquamous eruption (CAPE) is a spectrum of disease exhibited by patients with mutations, which are rare and have a wide variety of clinical manifestations. Patients usually have limited response to traditional therapies.
METHODS
We retrospectively analyzed a case series of 8 patients with CAPE in China. Whole-exome sequencing (WES) was performed in all patients to identify the mutation type. Three patients received the treatment of secukinumab with a 52-week follow-up period. They achieved 84.6%, 76.9%, and 68.8% improvement in PASI score, respectively.
RESULTS
The study identified three new variants in that had not been previously reported: c.392_397del, c.391_392delinsTT, and c.-280C>T. Three patients with different clinical manifestations showed good response to secukinumab.
CONCLUSION
The mutation types in -associated papulosquamous eruption were various. IL-17A inhibitors, such as secukinumab, can be an alternative treatment option for pediatric patients with CAPE.
背景
-相关丘疹鳞屑性皮疹（CAPE）是一种由基因突变患者表现出的疾病谱，这些突变罕见且有多种临床表现。患者通常对传统疗法反应有限。
方法
我们回顾性分析了中国8例CAPE患者的病例系列。对所有患者进行全外显子组测序（WES）以确定突变类型。3例患者接受了司库奇尤单抗治疗，随访期为52周。他们的银屑病面积和严重程度指数（PASI）评分分别改善了84.6%、76.9%和68.8%。
结果
该研究在中鉴定出三个先前未报道的新变异：c.392_397del、c.391_392delinsTT和c.-280C>T。三名临床表现不同的患者对司库奇尤单抗显示出良好反应。
结论
-相关丘疹鳞屑性皮疹的突变类型多种多样。IL-17A抑制剂，如司库奇尤单抗，可为患有CAPE的儿科患者提供一种替代治疗选择。
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