A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter

A new heterozygous frameshift variant in the keratin 10 gene (KRT10) was identified in a father and daughter, both presenting with different manifestations of ichthyosis hystrix. The daughter exhibited congenital erythroderma and hyperkeratosis, while the father had linear verrucous hyperkeratotic plaques. Histopathological analysis confirmed the diagnosis, showing characteristic features of ichthyosis hystrix. Sanger sequencing revealed a c.1349dupC variant in exon 6 of KRT10, leading to a frameshift and premature termination of the protein. This study expands the known molecular basis of ichthyosis hystrix and highlights intrafamilial heterogeneity in its clinical presentation.