一种与 CARD14 相关的丘疹鳞屑性发疹相关的新型突变。
A novel mutation in a CARD14-associated papulosquamous eruption.
机构信息
National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
出版信息
Pediatr Dermatol. 2023 Jul-Aug;40(4):706-709. doi: 10.1111/pde.15254. Epub 2023 Feb 1.
CARD14-associated papulosquamous eruption (CAPE), a spectrum that includes clinical features of psoriasis and pityriasis rubra pilaris (PRP), is associated with activating mutations in the CARD14 gene. Herein we describe the clinical features of a family with CAPE and a novel mutation of CARD14, and highlight ectropion as part of the phenotypic spectrum of CAPE.
CARD14 相关的丘疹鳞屑性发疹（CAPE），一种包括银屑病和毛发红糠疹（PRP）临床特征的疾病谱，与 CARD14 基因的激活突变有关。在此，我们描述了一个 CAPE 家族的临床特征和 CARD14 的一个新突变，并强调了睑外翻是 CAPE 表型谱的一部分。
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