Identification of a pathogenic CARD14 mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy

BMJ Case Rep. 2021 Jan 11;14(1):e235287. doi: 10.1136/bcr-2020-235287.

Abstract

Pityriasis rubra pilaris (PRP) is a rare dermatosis characterised by hyperkeratotic follicular papules, orange-red scaly plaques and palmoplantar keratoderma. The aetiology of the disease is in most cases unclear and treatment can be challenging. Familial cases of PRP may result from pathogenic variants in the caspase recruitment domain family member 14 (CARD14). We present a case of lifelong PRP in a 70-year-old woman, where genetic testing revealed a heterozygote missense variant c.412G>A, p.(Glu138Lys) in CARD14. Therapy with ustekinumab was initiated with remarkable effect, which improved the patient's quality of life significantly.

Keywords: dermatology; genetics; skin.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • CARD Signaling Adaptor Proteins / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Counseling*
  • Genetic Testing*
  • Guanylate Cyclase / genetics*
  • Heterozygote
  • Humans
  • Membrane Proteins / genetics*
  • Mutation, Missense
  • Pityriasis Rubra Pilaris / complications
  • Pityriasis Rubra Pilaris / diagnosis*
  • Pityriasis Rubra Pilaris / drug therapy
  • Pityriasis Rubra Pilaris / genetics
  • Quality of Life
  • Treatment Outcome
  • Ustekinumab / therapeutic use*

Substances

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