CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris - 16/08/18

Doi : 10.1016/j.jaad.2018.02.034

Brittany G. Craiglow, MD ^a, Lynn M. Boyden, PhD ^b, Ronghua Hu, MD ^a, Marie Virtanen, MD ^c, John Su, MD ^d,^e, Gabriela Rodriguez, MD ^f, Catherine McCarthy, MD, PhD ^g, Paula Luna, MD ^h, Margarita Larralde, MD, PhD ^h, Stephen Humphrey, MD ⁱ, Kristen E. Holland, MD ⁱ, Marcia Hogeling, MD ^j, Benjamin Hidalgo-Matlock, MD ^f, Bruno Ferrari, MD ^h, Esteban Fernandez-Faith, MD ^k,^l, Beth Drolet, MD ⁱ, Kelly M. Cordoro, MD ^m,ⁿ, Anne M. Bowcock, PhD ^o,^p,^q, Richard J. Antaya, MD ^a,^r, Kurt Ashack, MD ^s, Richard J. Ashack, MD ^t, Richard P. Lifton, MD, PhD ^b, Leonard M. Milstone, MD ^a, Amy S. Paller, MD ^u,^v, Keith A. Choate, MD, PhD ^a,^b,^w,^⁎
^a Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut
^b Department of Genetics, Yale University School of Medicine, New Haven, Connecticut
^r Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut
^w Department of Pathology, Yale University School of Medicine, New Haven, Connecticut
^c Department of Dermatology, Uppsala University Hospital, Uppsala, Sweden
^d Department of Dermatology, Monash University, Eastern Health, Melbourne, Australia
^e Department of Pediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia
^f Department of Dermatology, University of Costa Rica, San Jose, Costa Rica
^g Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri
^h Department of Pediatric Dermatology, Ramos Mejía Hospital, Buenos Aires, Argentina
ⁱ Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin
^j Division of Dermatology, David Geffen School of Medicine at University of California, Los Angeles, California
^k Department of Pediatrics and Dermatology, The Ohio State University Medical Center, Columbus, Ohio
^l Department of Pediatrics and Dermatology, Nationwide Children's Hospital, Columbus, Ohio
^m Department of Dermatology, University of California, San Francisco, California
ⁿ Department of Pediatrics, University of California, San Francisco, California
^o Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, New York
^p Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, New York
^q Department of Genetics and Genome Sciences, Icahn School of Medicine at Mount Sinai, New York, New York
^s Department of Dermatology, University of Illinois at Chicago College of Medicine, Chicago, Illinois
^t Dermatology Associates of West Michigan, Grand Rapids, Michigan
^u Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois
^v Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois

^∗Correspondence to: Keith A. Choate, MD, PhD, Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT 06520.Department of DermatologyYale University School of MedicinePO Box 208059New HavenCT06520

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.

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Key words : CARD14, genetics, pityriasis rubra pilaris, psoriasis, treatment, ustekinumab

Abbreviations used : CAPE, IL, NF-κB, PRP

Plan

Methods

Results

Discussion

	Dr Craiglow and Boyden contributed equally to this work.
	Drs Milstone and Paller also contributed equally.
	Funding sources: Supported in part by National Institutes of Health (grants R01 AR068392 [to Dr Choate] and R01 AR050266 [to Dr Bowcock]), the Foundation for Ichthyosis and Related Skin Types and Dermatology Foundation (to Dr Craiglow), and the Yale Center for Mendelian Genomics (grant U54 HG006504).
	Disclosure: Dr Choate has received honoraria from Janssen Biotech and Abbvie. Drs Craiglow, Boyden, Hu, Virtanen, Su, Rodriguez, McCarthy, Luna, Larralde, Humphrey, Holland, Hogeling, Hidalgo-Matlock, Ferrari, Fernandez-Faith, Drolet, Cordoro, Bowcock, Antaya, Ashack, Ashack, Lifton, Milstone, and Paller have no conflicts of interest to disclose.
	Reprints not available from the authors.

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Vol 79 - N° 3

P. 487-494 - septembre 2018 Retour au numéro

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CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris - 16/08/18

Abstract

Background

Objective

Methods

Results

Limitations

Conclusions

Plan

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