2020 Volume 130 Issue 11 Pages 2379-2383
Familial pityriasis rubra pilaris (PRP) is caused by gain-of-function mutations in CARD14. We report familial cases of a 28-year old mother and a 11-month old daughter with well-demarcated salmon-coloured plaques accompanied by scales. The mother is tolerant with emollients and moisturizers, and her daughter's symptoms improved with topical vitamin D3, steroid, and oral vitamin A. After genetic counselling, genetic analysis revealed a heterozygous missense mutation in CARD14, c.467T>C (p.Leu156Pro) in the mother and the daughter, but not in the father. We diagnosed them with familial cases of PRP type V. This variant has been reported from a Israeli group. In Japan, 4 cases of PRP identified with a CARD14 mutation have been reported, but none of them had this variant.
