A novel mutation in a CARD14-associated papulosquamous eruption

Pediatr Dermatol. 2023 Jul-Aug;40(4):706-709. doi: 10.1111/pde.15254. Epub 2023 Feb 1.

Abstract

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.

Keywords: CAPE; CARD14 gene; mutation.

Publication types

  • Case Reports

MeSH terms

  • CARD Signaling Adaptor Proteins / genetics
  • Ectropion*
  • Exanthema*
  • Gain of Function Mutation
  • Guanylate Cyclase / genetics
  • Humans
  • Membrane Proteins / genetics
  • Mutation
  • Pityriasis Rubra Pilaris* / diagnosis
  • Pityriasis Rubra Pilaris* / genetics
  • Psoriasis*

Substances

  • CARD14 protein, human
  • Guanylate Cyclase
  • Membrane Proteins
  • CARD Signaling Adaptor Proteins