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

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

Craiglow, Brittany G. (författare): Yale Univ, Sch Med, Dept Dermatol, POB 208059, New Haven, CT 06520 USA

Boyden, Lynn M. (författare): Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA

Hu, Ronghua (författare): Yale Univ, Sch Med, Dept Dermatol, POB 208059, New Haven, CT 06520 USA

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Virtanen, Marie (författare): Uppsala universitet,Dermatologi och venereologi

Su, John (författare): Univ Melbourne, Murdoch Childrens Res Inst, Dept Pediat, Melbourne, Vic, Australia;Monash Univ, Eastern Hlth, Dept Dermatol, Melbourne, Vic, Australia

Rodriguez, Gabriela (författare): Univ Costa Rica, Dept Dermatol, San Jose, Costa Rica

McCarthy, Catherine (författare): Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA

Luna, Paula (författare): Ramos Mejia Hosp, Dept Pediat Dermatol, Buenos Aires, DF, Argentina

Larralde, Margarita (författare): Ramos Mejia Hosp, Dept Pediat Dermatol, Buenos Aires, DF, Argentina

Humphrey, Stephen (författare): Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI 53226 USA

Holland, Kristen E. (författare): Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI 53226 USA

Hogeling, Marcia (författare): Univ Calif Los Angeles, David Geffen Sch Med, Div Dermatol, Los Angeles, CA 90095 USA

Hidalgo-Matlock, Benjamin (författare): Univ Costa Rica, Dept Dermatol, San Jose, Costa Rica

Ferrari, Bruno (författare): Ramos Mejia Hosp, Dept Pediat Dermatol, Buenos Aires, DF, Argentina

Fernandez-Faith, Esteban (författare): Ohio State Univ, Med Ctr, Dept Pediat & Dermatol, Columbus, OH 43210 USA;Nationwide Childrens Hosp, Dept Pediat & Dermatol, Columbus, OH USA

Drolet, Beth (författare): Nationwide Childrens Hosp, Dept Pediat & Dermatol, Columbus, OH USA

Cordoro, Kelly M. (författare): Univ Calif San Francisco, Dept Dermatol, San Francisco, CA 94143 USA;Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA

Bowcock, Anne M. (författare): Icahn Sch Med Mt Sinai, Dept Oncol Sci, New York, NY 10029 USA;Icahn Sch Med Mt Sinai, Dept Genet & Genome Sci, New York, NY 10029 USA;Icahn Sch Med Mt Sinai, Dept Dermatol, New York, NY 10029 USA

Antaya, Richard J. (författare): Yale Univ, Sch Med, Dept Dermatol, POB 208059, New Haven, CT 06520 USA;Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06510 USA

Ashack, Kurt (författare): Univ Illinois, Coll Med, Dept Dermatol, Chicago, IL 60680 USA

Ashack, Richard J. (författare): Dermatol Associates West Michigan, Grand Rapids, MI USA

Lifton, Richard P. (författare): Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA

Milstone, Leonard M. (författare): Yale Univ, Sch Med, Dept Dermatol, POB 208059, New Haven, CT 06520 USA

Paller, Amy S. (författare): Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA;Northwestern Univ, Feinberg Sch Med, Dept Dermatol, Chicago, IL 60611 USA

Choate, Keith A. (författare): Yale Univ, Sch Med, Dept Dermatol, POB 208059, New Haven, CT 06520 USA;Yale Univ, Sch Med, Dept Pathol, New Haven, CT 06510 USA;Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA

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Elsevier BV, 2018
2018
Engelska.
Ingår i: The Journal of American Academy of Dermatology. - : Elsevier BV. - 0190-9622 .- 1097-6787. ; 79:3, s. 487-494

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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.

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Dermatologi och ...

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

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