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

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

卷:79

Article

Craiglow, Brittany G.¹  Boyden, Lynn M.²  Hu, Ronghua¹  Virtanen, Marie⁵  Su, John^6,7  Rodriguez, Gabriela⁸  McCarthy, Catherine⁹  Luna, Paula¹⁰  Larralde, Margarita¹⁰  Humphrey, Stephen¹¹  Holland, Kristen E.¹¹  Hogeling, Marcia¹²  Hidalgo-Matlock, Benjamin⁸  Ferrari, Bruno¹⁰  Fernandez-Faith, Esteban^13,14  Drolet, Beth¹⁴  Cordoro, Kelly M.^15,16  Bowcock, Anne M.^17,18,19  Antaya, Richard J.^1,3  Ashack, Kurt²⁰  Ashack, Richard J.²¹  Lifton, Richard P.²  Milstone, Leonard M.¹  Paller, Amy S.^22,23  Choate, Keith A.^1,2,4 

[1] Yale Univ, Sch Med, Dept Dermatol, POB 208059, New Haven, CT 06520 USA

[2] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA

[3] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06510 USA

[4] Yale Univ, Sch Med, Dept Pathol, New Haven, CT 06510 USA

[5] Uppsala Univ Hosp, Dept Dermatol, Uppsala, Sweden

[6] Monash Univ, Eastern Hlth, Dept Dermatol, Melbourne, Vic, Australia

[7] Univ Melbourne, Murdoch Childrens Res Inst, Dept Pediat, Melbourne, Vic, Australia

[8] Univ Costa Rica, Dept Dermatol, San Jose, Costa Rica

[9] Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA

[10] Ramos Mejia Hosp, Dept Pediat Dermatol, Buenos Aires, DF, Argentina

[11] Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI 53226 USA

[12] Univ Calif Los Angeles, David Geffen Sch Med, Div Dermatol, Los Angeles, CA 90095 USA

[13] Ohio State Univ, Med Ctr, Dept Pediat & Dermatol, Columbus, OH 43210 USA

[14] Nationwide Childrens Hosp, Dept Pediat & Dermatol, Columbus, OH USA

[15] Univ Calif San Francisco, Dept Dermatol, San Francisco, CA 94143 USA

[16] Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA

[17] Icahn Sch Med Mt Sinai, Dept Oncol Sci, New York, NY 10029 USA

[18] Icahn Sch Med Mt Sinai, Dept Dermatol, New York, NY 10029 USA

[19] Icahn Sch Med Mt Sinai, Dept Genet & Genome Sci, New York, NY 10029 USA

[20] Univ Illinois, Coll Med, Dept Dermatol, Chicago, IL 60680 USA

[21] Dermatol Associates West Michigan, Grand Rapids, MI USA

[22] Northwestern Univ, Feinberg Sch Med, Dept Dermatol, Chicago, IL 60611 USA

[23] Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA

关键词: CARD14;    genetics;    pityriasis rubra pilaris;    psoriasis;    treatment;    ustekinumab;   

DOI  :  10.1016/j.jaad.2018.02.034

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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