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CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
- Craiglow, Brittany G;
- Boyden, Lynn M;
- Hu, Ronghua;
- Virtanen, Marie;
- Su, John;
- Rodriguez, Gabriela;
- McCarthy, Catherine;
- Luna, Paula;
- Larralde, Margarita;
- Humphrey, Stephen;
- Holland, Kristen E;
- Hogeling, Marcia;
- Hidalgo-Matlock, Benjamin;
- Ferrari, Bruno;
- Fernandez-Faith, Esteban;
- Drolet, Beth;
- Cordoro, Kelly M;
- Bowcock, Anne M;
- Antaya, Richard J;
- Ashack, Kurt;
- Ashack, Richard J;
- Lifton, Richard P;
- Milstone, Leonard M;
- Paller, Amy S;
- Choate, Keith A
- et al.
Published Web Location
https://doi.org/10.1016/j.jaad.2018.02.034Abstract
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-α 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.Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.
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