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A novel mutation in a CARD14-associated papulosquamous eruption

Nana Li1,2, Jing Tao1,2, Jingli Zhang3

  • 1National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Pediatric Dermatology
|February 1, 2023
PubMed

Insights

CARD14-associated papulosquamous eruption (CAPE) involves psoriasis and pityriasis rubra pilaris (PRP) due to CARD14 gene mutations. This study identifies a new mutation and includes ectropion in the CAPE spectrum.

Area of Science:

  • Dermatology
  • Genetics
  • Molecular Biology

Background:

  • CARD14-associated papulosquamous eruption (CAPE) is a skin condition spectrum.
  • CAPE shares features with psoriasis and pityriasis rubra pilaris (PRP).
  • Activating mutations in the CARD14 gene are linked to CAPE.

Observation:

  • A family presented with clinical features of CAPE.
  • A novel mutation in the CARD14 gene was identified in this family.
  • Ectropion was observed as part of the clinical presentation.

Findings:

  • The study identified a novel CARD14 mutation in a family with CAPE.
  • The findings expand the known phenotypic spectrum of CAPE.
  • Ectropion is recognized as a potential feature of CAPE.

Implications:

  • This research deepens the understanding of CARD14-associated genetic skin disorders.
  • Identifying new mutations aids in diagnosing and managing CAPE.
  • Recognizing ectropion broadens the diagnostic criteria for CAPE.

Keywords:
CAPECARD14 genemutation

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