A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
March 2023
in “
JAAD case reports
”
Studysummary This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
