Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

The study demonstrated that mutations in the Vitamin D Receptor (VDR) gene caused a form of atrichia (hair loss) that was clinically and pathologically indistinguishable from generalized atrichia caused by mutations in the Hairless (HR) gene. The patient exhibited vitamin D resistant rickets and had skin showing an absence of normal hair follicles, similar to individuals with HR mutations. Genetic analysis revealed two mutations in the VDR gene, leading to disrupted hair follicle cycling. The findings suggested that VDR and HR are part of the same genetic pathway controlling postnatal hair follicle cycling, highlighting the need for further research to clarify their roles.