中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (8): 580-582.doi: 10.12144/zgmfskin202308580

• 临床研究 • 上一篇    下一篇

携带罕见突变的CARD14相关丘疹鳞屑性疾病一例

陈文杰,周盛基,陈声利,王真真,刘红,张福仁   

  1. 山东第一医科大学附属皮肤病医院(山东省皮肤病医院)，山东省皮肤病性病防治研究所，山东济南，250022
  • 出版日期:2023-08-15 发布日期:2023-07-19

CARD14-associated papulosquamous eruption caused by a novel mutation: a case report

CHEN Wenjie, ZHOU Shengji, CHEN Shengli, LIU Hong, ZHANG Furen   

  1. Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University, Jinan 250022, China
  • Online:2023-08-15 Published:2023-07-19

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摘要： 患者，男，41岁。因 “全身红斑鳞屑40天”来我院就诊，临床、组织病理学具有毛发红糠疹和银屑病的交叉表现，无家族史，首次发病年龄为41岁。初步诊断为I型毛发红糠疹，口服阿维A有显著改善。经过全外显子测序和Sanger测序发现患者携带CARD14基因的罕见致病性突变位点c.1799 C>T(p.Pro600Leu)，综合临床、组织病理学表现，以及基因检测的结果，最终诊断为CARD14相关的丘疹鳞屑性疾病。

关键词: CARD14, CAPE, 毛发红糠疹, 银屑病

Abstract: A 41-year-old male presented with erythematous, desquamative dermatitis  all over the body for 40 days. The clinical manifestation and biopsy features of the lesions were consistence with both pityriasis rubra pilaris and psoriasis, with negative family history. The age of first onset was 41 years old. Preliminary diagnosis was pityriasis rubra pilaris (Type I). Systemic acitretin shows significant improvement. Whole-exome and Sanger DNA sequencing were used to characterize the disease gene in the patient, and a novel heterozygous mutation c.1799 C>T(p.Pro600Leu) in the CARD14 gene was identified. The final diagnosis of CAPE (CARD14-associated papulosquamous eruption) was made according to the clinical and pathological features, as well as the genetic results.

Key words: CARD14, CAPE, pityriasis rubra pilaris, psoriasis