Novel KRT83 and KRT86 Mutations Associated with Monilethrix

The study investigated monilethrix, a rare autosomal dominant hair disorder caused by mutations in the hard keratins KRT81, KRT83, and KRT86, which leads to fragile hair and scarring alopecia. The research identified new cases in Venezuela, the Netherlands, Belgium, and France, highlighting novel mutations in KRT83 and KRT86. Notably, the Venezuelan kindred exhibited digenic novel nucleotide changes, including a KRT86 mutation linked to monilethrix and a KRT81 variant of unknown significance. These findings expanded the known mutational spectrum of monilethrix, suggesting that the disorder might be underreported due to its potentially mild manifestations.