Monilethrix in three generations

The document reported a case of monilethrix, a rare autosomal dominant hair shaft disorder, affecting three generations in a family. A 4-year-old girl presented with short, sparse, and fragile hair, a condition shared by her mother and maternal grandmother, who both showed gradual improvement with age. The disorder is characterized by beaded hair shafts due to nodes and internodal thinning, leading to hair fragility. While there is no specific treatment, some improvement has been noted with age and certain medications. The study highlighted the genetic basis of monilethrix, linked to mutations in hair keratin genes, and noted that light microscopy is diagnostic.