CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris,Journal of the American Academy of Dermatology

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CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
Journal of the American Academy of Dermatology ( IF 12.8 ) Pub Date : 2018-03-01 , DOI: 10.1016/j.jaad.2018.02.034
Brittany G Craiglow ₁ , Lynn M Boyden ₂ , Ronghua Hu ₁ , Marie Virtanen ₃ , John Su ₄ , Gabriela Rodriguez ₅ , Catherine McCarthy ₆ , Paula Luna ₇ , Margarita Larralde ₇ , Stephen Humphrey ₈ , Kristen E Holland ₈ , Marcia Hogeling ₉ , Benjamin Hidalgo-Matlock ₅ , Bruno Ferrari ₇ , Esteban Fernandez-Faith ₁₀ , Beth Drolet ₈ , Kelly M Cordoro ₁₁ , Anne M Bowcock ₁₂ , Richard J Antaya ₁₃ , Kurt Ashack ₁₄ , Richard J Ashack ₁₅ , Richard P Lifton ₂ , Leonard M Milstone ₁ , Amy S Paller ₁₆ , Keith A Choate ₁₇

Affiliation

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Department of Dermatology, Uppsala University Hospital, Uppsala, Sweden.
Department of Dermatology, Monash University, Eastern Health, Melbourne, Australia; Department of Pediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia.
Department of Dermatology, University of Costa Rica, San Jose, Costa Rica.
Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri.
Department of Pediatric Dermatology, Ramos Mejía Hospital, Buenos Aires, Argentina.
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin.
Division of Dermatology, David Geffen School of Medicine at University of California, Los Angeles, California.
Department of Pediatrics and Dermatology, The Ohio State University Medical Center, Columbus, Ohio; Department of Pediatrics and Dermatology, Nationwide Children's Hospital, Columbus, Ohio.
Department of Dermatology, University of California, San Francisco, California; Department of Pediatrics, University of California, San Francisco, California.
Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genome Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.
Department of Dermatology, University of Illinois at Chicago College of Medicine, Chicago, Illinois.
Dermatology Associates of West Michigan, Grand Rapids, Michigan.
Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut.

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.

中文翻译：

CARD14 相关丘疹鳞屑性皮疹：包括银屑病和毛发红糠疹特征的谱系

背景

半胱天冬酶募集域家族成员 14 基因 ( CARD14 ) 的杂合突变已被证明与银屑病和家族性毛发红糠疹 (PRP) 相关。许多具有CARD14突变的受试者表现出这两种疾病的特征，这可能导致诊断的不确定性。此外，这些皮疹通常对甲氨蝶呤、口服维甲酸和肿瘤坏死因子-α 抑制剂等传统银屑病疗法无效。