Discreet Monilethrix: De Novo Mutation in Polish Families

The document described a case of a 6-year-old Polish girl with an atypical form of monilethrix, a hair disorder characterized by fragile, beaded hair and keratosis pilaris. The condition was observed after a fever, leading to significant hair loss and the development of short, sparse, and dry hair. Trichoscopy and microscopic examination revealed characteristic beaded hair with nodes and constrictions. Despite treatment with a pharmacological mix, the symptoms persisted, although there was some improvement in hair density. The study suggested that monilethrix is caused by mutations in hair keratin genes, with the E413K mutation in hHb6 being common. The girl's case was identified as a de novo mutation, as her family showed no signs of the disorder.