Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families

The study investigated three Chinese patients with autosomal recessive monilethrix (ARM), a rare hereditary hair loss disorder. It identified four new variants in the DSG4 gene, which is crucial for hair follicle development. These variants were found in non-related families, suggesting a possible founder effect. The study also found that ARM's clinical manifestations are more severe than the autosomal dominant form, with more extensive hair loss and keratotic follicular papules. Currently, there is no cure for ARM, and while hair improvement can occur with age and during pregnancy, hair loss typically returns post-delivery. These findings enhance understanding of the DSG4 protein's structure and function and genotype-phenotype correlations.