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

Rikke Maria Nielsen, Stine Bjørn Gram, Anette Bygum

Research output: Contribution to journalJournal articleResearchpeer-review

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.
Original languageEnglish
Article numbere235287
JournalBMJ Case Reports
Volume14
Issue number1
ISSN1757-790X
DOIs
Publication statusPublished - 11. Jan 2021

Keywords

  • dermatology
  • genetics
  • skin

Fingerprint

Dive into the research topics of 'Identification of a pathogenic CARD14 mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy'. Together they form a unique fingerprint.

Cite this