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Identification of a pathogenic CARD14 mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy
  1. Rikke Maria Nielsen1,
  2. Stine Bjørn Gram2 and
  3. Anette Bygum3
  1. 1Department of Dermatology and Allergy Center, Odense University Hospital, Odense, Denmark
  2. 2University of Southern Denmark, Odense, Syddanmark, Denmark
  3. 3Dermatology and Allergy Center, University Hospital of Odense, Odense, Denmark
  1. Correspondence to Rikke Maria Nielsen; rikke.maria.nielsen2{at}rsyd.dk

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.

  • dermatology
  • skin
  • genetics

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Footnotes

  • Contributors RMN (dermatology): corresponding author. SBG (clinical genetics): contributed with genetic analysis, proof reading. AB (clinical genetics): supervision of process, proof reading.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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