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The Australasian journal of dermatology
Mar 14, 2025;

Similar Molecular Features in Two Cases of CARD14-Associated Papulosquamous Eruption.

Yumeng Wang, Bing Wang, Jiawen Chen, Fuh-Miin Liang, Haifei Liu, Jinxiang Yang, Ming Li, Zhirong Yao, Xiaobo Feng
Author Information
  1. Yumeng Wang: Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. ORCID
  2. Bing Wang: Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. ORCID
  3. Jiawen Chen: Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. ORCID
  4. Fuh-Miin Liang: Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. ORCID
  5. Haifei Liu: Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
  6. Jinxiang Yang: Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. ORCID
  7. Ming Li: Department of Dermatology, The Children's Hospital of Fudan University, Shanghai, China.
  8. Zhirong Yao: Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. ORCID
  9. Xiaobo Feng: Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
PMID: 40084598 DOI: 10.1111/ajd.14455

Abstract

Subjects carrying variants in the caspase recruitment domain family member 14 (CARD14) gene can exhibit characteristics of psoriasis and pityriasis rubra pilaris (PRP). The term 'CARD14-associated papulosquamous eruption (CAPE)' is used to describe individuals presenting with symptoms of both conditions. This study aimed to diagnose two cases of CAPE and explore the pathogenic mechanisms, including inflammatory trends and differential features. Whole-exome sequencing and Sanger sequencing identified a novel variant, c.2768T>C and a recurrent variant, c.467T>C, in CARD14 in two unrelated individuals, both exhibiting incomplete penetrance. Both of patients exhibited increased IL-17A in skin lesions, but not in serum, potentially explaining the reported cases with low response rate to secukinumab. One patient also exhibited increased IL-23A in serum. Additionally, the epidermis of lesions showed aberrant late differentiation and active NF-��B signalling.

Keywords

CARD14 CARD14���associated papulosquamous eruption (CAPE) differentiation inflammation pathogenic variant

References

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Grants

  1. 81874252/National Natural Science Foundation of China
  2. 82103716/National Natural Science Foundation of China
Journal Article
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Word Cloud

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