Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in KRT16

In the present study, we report a consanguineous Kuwaiti pedigree with pseudo-dominant inheritance of a recessive KRT16 variant in which homozygotes had focal nonepidermolytic palmoplantar keratoderma accompanied by ragged periungual hyperkeratosis. The key value of this submission is that we believe we have identified the first autosomal recessive inherited skin disorder resulting from pathogenic variants in the keratin 16 gene, KRT16. Our findings expand both the genetic basis and phenotypic expression of inherited KRT16-related disorders.