A new KRT86 mutation in a Chinese family with monilethrix

Abstract

Monilethrix is a rare hereditary disorder, characterized by beaded appearance of hair that breaks easily, resulting localized or diffused sparse1 . Dermoscopic feature of monilethrix is described as "regularly bended ribbon sign"2 . It is usually caused by autosomal dominant mutations in the type II hair keratin genes KRT 81, KRT 83 and KRT 861 . Here, we reported a 2 years old girl with monilethrix due to a novel heterozygous deletion mutation in KRT86.