{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T16:35:51Z","timestamp":1764174951221,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,11,26]]},"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>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&gt;A, p.(Glu138Lys) in CARD14. Therapy with ustekinumab was initiated with remarkable effect, which improved the patient\u2019s quality of life significantly.<\/jats:p>","DOI":"10.1136\/bcr-2020-235287","type":"journal-article","created":{"date-parts":[[2021,1,12]],"date-time":"2021-01-12T18:18:21Z","timestamp":1610475501000},"page":"e235287","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of a pathogenic <i>CARD14<\/i> mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5675-996X","authenticated-orcid":false,"given":"Rikke Maria","family":"Nielsen","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergy Center, Odense University Hospital, Odense, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stine Bj\u00f8rn","family":"Gram","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Odense University Hospital, Odense, Denmark"},{"name":"Clinical Institute, University of Southern Denmark, Odense, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anette","family":"Bygum","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Odense University Hospital, Odense, Denmark"},{"name":"Clinical Institute, University of Southern Denmark, Odense, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,1,11]]},"reference":[{"key":"2025082710314844000_14.1.e235287.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1976.tb01397.x"},{"key":"2025082710314844000_14.1.e235287.2","doi-asserted-by":"publisher","DOI":"10.1097\/00000372-198608000-00001"},{"key":"2025082710314844000_14.1.e235287.3","unstructured":"Griffiths A . Pityriasis rubra pilaris. in: Dowling oration, 2003. Available: http:\/\/www.prp-support.org\/wp\/wp-content\/uploads\/2014\/03\/Griffiths-Dowling-Oration-2003.pdf [Accessed 13 Oct 2019]."},{"key":"2025082710314844000_14.1.e235287.4","doi-asserted-by":"crossref","unstructured":"Griffiths W . Pityriasis rubra pilaris. 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Secukinumab in pityriasis rubra pilaris: a case series demonstrating variable response and the need for minimal clinical datasets. 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Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab. 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