Abstract
Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) were found to cause plaque psoriasis in two families and severe generalized pustular psoriasis as a monogenic form of childhood (CARD14-mediated psoriasis, CAMPS) [1]. CARD14 mutations have also been implicated in plaque-type psoriasis and pityriasis rubra pilaris [2].
Highlights
Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) were found to cause plaque psoriasis in two families and severe generalized pustular psoriasis as a monogenic form of childhood (CARD14-mediated psoriasis, CAMPS) [1]
Describing a family with an unusual clinical phenotype characterized by some members with childhood-onset erytrodermic psoriasis first localized and diffuse over all the skin surface; in some family members is reported psoriatic arthritis
Among variants shared by the four affected individuals and not present in the unaffected subject, a missense mutation of the CARD14 gene resulted worth of further investigation
Summary
Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) were found to cause plaque psoriasis in two families and severe generalized pustular psoriasis as a monogenic form of childhood (CARD14-mediated psoriasis, CAMPS) [1]. CARD14 mutations have been implicated in plaquetype psoriasis and pityriasis rubra pilaris [2]
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