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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer 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.
OriginalsprogEngelsk
Artikelnummere235287
TidsskriftBMJ Case Reports
Vol/bind14
Udgave nummer1
ISSN1757-790X
DOI
StatusUdgivet - 11. jan. 2021

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