Xinrong Zhao, Zhaoyang Wang, Yunliu Chen, Xin Xiang, Yuanxiang Liu, Chaoyang Miao, Zigang Xu

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

Correspondence: Zigang Xu, Department of Dermatology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health and Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing, People’s Republic of China, Tel +8601013370110521, Email zigangxupek@163.com

Background: CARD14-associated papulosquamous eruption (CAPE) is a spectrum of disease exhibited by patients with CARD14 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 CARD14 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 CARD14-associated papulosquamous eruption were various. IL-17A inhibitors, such as secukinumab, can be an alternative treatment option for pediatric patients with CAPE.

Keywords: CARD14-associated papulosquamous eruption, CARD14 mutation, biological treatments, secukinumab