|Title||CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.|
|Publication Type||Journal Article|
|Year of Publication||2018|
|Authors||Craiglow, BG, Boyden, LM, Hu, R, Virtanen, M, Su, J, Rodriguez, G, McCarthy, C, Luna, P, Larralde, M, Humphrey, S, Holland, KE, Hogeling, M, Hidalgo-Matlock, B, Ferrari, B, Fernandez-Faith, E, Drolet, B, Cordoro, KM, Bowcock, AM, Antaya, RJ, Ashack, K, Ashack, RJ, Lifton, RP, Milstone, LM, Paller, AS, Choate, KA|
|Journal||J Am Acad Dermatol|
|Date Published||2018 Sep|
|Keywords||Age of Onset, CARD Signaling Adaptor Proteins, Child, Child, Preschool, Dermatologic Agents, Facial Dermatoses, Genetic Testing, Guanylate Cyclase, Humans, Infant, Infant, Newborn, Membrane Proteins, Phenotype, Pityriasis Rubra Pilaris, Psoriasis, Retreatment, Skin Diseases, Papulosquamous, Ustekinumab|
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.
|Alternate Journal||J. Am. Acad. Dermatol.|
|PubMed Central ID||PMC6098739|
|Grant List||UM1 HG006504 / HG / NHGRI NIH HHS / United States |
R01 AR050266 / AR / NIAMS NIH HHS / United States
UL1 TR001863 / TR / NCATS NIH HHS / United States
S10 OD018521 / OD / NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
R01 AR068392 / AR / NIAMS NIH HHS / United States