Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene

Targeted next-generation sequencing and Sanger sequencing identified a novel heterozygous mutation: c.2263C>T, p.Q755* in exon 16 of CARD14 in the proband (III: 1) and in all the affected family members. Familial PRP is an autosomal dominant genodermatoses, so it is quite expected that all the affected family members showed a similar disease phenotype as they are harboring the same pathogenic mutation in a heterozygous state. [3] In this family, the extreme interindividual phenotypic diversity in the disease symptoms might be caused by the differences in the genetic background and the presence of “modifier genes” in each of the individuals.