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. 2018 Sep;79(3):487-494.
doi: 10.1016/j.jaad.2018.02.034. Epub 2018 Mar 1.

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

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
Affiliations

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

Brittany G Craiglow et al. J Am Acad Dermatol. 2018 Sep.

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.

Keywords: CARD14; genetics; pityriasis rubra pilaris; psoriasis; treatment; ustekinumab.

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Conflict of interest statement

Conflict of Interest: Dr. Choate has received honoraria from Janssen Biotech and Abbvie.

Figures

Figure 1
Figure 1. Characteristic facial involvement in CAPE
Symmetric and geometric pink, scaly patches or plaques involving the cheeks, upper cutaneous lip and chin with sparing of the infralabial region is highly characteristic of CAPE.
Figure 2
Figure 2. Spectrum of phenotypes of patients with CAPE
Clinical appearance ranges from more psoriasis-like (a), mixed features of psoriasis and PRP (b), to PRP-like (c), to erythroderma (d).
Figure 2
Figure 2. Spectrum of phenotypes of patients with CAPE
Clinical appearance ranges from more psoriasis-like (a), mixed features of psoriasis and PRP (b), to PRP-like (c), to erythroderma (d).
Figure 2
Figure 2. Spectrum of phenotypes of patients with CAPE
Clinical appearance ranges from more psoriasis-like (a), mixed features of psoriasis and PRP (b), to PRP-like (c), to erythroderma (d).
Figure 2
Figure 2. Spectrum of phenotypes of patients with CAPE
Clinical appearance ranges from more psoriasis-like (a), mixed features of psoriasis and PRP (b), to PRP-like (c), to erythroderma (d).
Figure 3
Figure 3. Response to ustekinumab
Subject 9 at baseline demonstrating widespread thin pink plaques with classic ‘islands of sparing’ (a) and after 6 months of treatment with ustekinumab (b). He demonstrated near complete clearance after 2 monthly doses of 0.6 mg/kg but in order to maintain this he ultimately required ustekinumab 1.2 mg/kg every 8 weeks.
Figure 3
Figure 3. Response to ustekinumab
Subject 9 at baseline demonstrating widespread thin pink plaques with classic ‘islands of sparing’ (a) and after 6 months of treatment with ustekinumab (b). He demonstrated near complete clearance after 2 monthly doses of 0.6 mg/kg but in order to maintain this he ultimately required ustekinumab 1.2 mg/kg every 8 weeks.
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References

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