CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris

Brittany G. Craiglow, Lynn M. Boyden, Ronghua Hu, Marie Virtanen, John Su, Gabriela Rodriguez, Catherine McCarthy, Paula Luna, Margarita Larralde, Stephen Humphrey, Kristen E. Holland, Marcia Hogeling, Benjamin Hidalgo-Matlock, Bruno Ferrari, Esteban Fernandez-Faith, Beth Drolet, Kelly M. Cordoro, Anne M. Bowcock, Richard J. Antaya, Kurt AshackRichard J. Ashack, Richard P. Lifton, Leonard M. Milstone, Amy S. Paller, Keith A. Choate*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)487-494
Number of pages8
JournalJournal of the American Academy of Dermatology
Volume79
Issue number3
DOIs
StatePublished - Sep 2018

Keywords

  • CARD14
  • genetics
  • pityriasis rubra pilaris
  • psoriasis
  • treatment
  • ustekinumab

ASJC Scopus subject areas

  • Dermatology

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