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CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
Yale Univ, Sch Med, Dept Dermatol, POB 208059, New Haven, CT 06520 USA.
Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA.
Yale Univ, Sch Med, Dept Dermatol, POB 208059, New Haven, CT 06520 USA.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Dermatology and Venereology.
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2018 (English)In: The Journal of American Academy of Dermatology, ISSN 0190-9622, E-ISSN 1097-6787, Vol. 79, no 3, p. 487-494Article in journal (Refereed) Published
Abstract [en]

Background: Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-alpha inhibitors. Objective: We sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14. Methods: Subjects were referred for genetic testing as part of a registry of subjects with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed. Results: We identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset; prominent involvement of the cheeks, chin, and ears; family history of psoriasis or PRP; minimal response to conventional topical and systemic psoriasis therapies; and improvement with ustekinumab. Limitations: Relatively small sample size. Conclusions: Many subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption to describe this spectrum of disease. Subjects with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab.

Place, publisher, year, edition, pages
2018. Vol. 79, no 3, p. 487-494
Keywords [en]
CARD14, genetics, pityriasis rubra pilaris, psoriasis, treatment, ustekinumab
National Category
Dermatology and Venereal Diseases
Identifiers
URN: urn:nbn:se:uu:diva-362637DOI: 10.1016/j.jaad.2018.02.034ISI: 000441509200022PubMedID: 29477734OAI: oai:DiVA.org:uu-362637DiVA, id: diva2:1254350
Available from: 2018-10-09 Created: 2018-10-09 Last updated: 2019-01-21Bibliographically approved

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