More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players

Research on monilethrix, a hereditary hair disorder, revealed that while it was initially linked to mutations in type II hair cortex keratins, other genetic factors were also involved. Specifically, mutations in the desmoglein 4 (DSG4) gene, a desmosomal cadherin, were identified as significant contributors to monilethrix and localized autosomal recessive hypotrichosis (LAH). These mutations disrupted cell-cell adhesion in hair follicles, leading to hair abnormalities in both humans and animal models. The study highlighted specific mutations, such as Pro267Arg, and suggested that the beaded hair phenotype in monilethrix might result from oscillations in hair follicle differentiation processes. This research provided new insights into the genetic basis of these hair disorders, although the autosomal dominant form of monilethrix was not explored.