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

September 2001 in “ The journal of investigative dermatology/Journal of investigative dermatology ”

Jeffrey M. Miller, Karima Djabali, Thomas Chen, Yaping Liu, Michael D. Ioffreda, Stephen Lyle, Angela M. Christiano, Michael F. Holick, George Cotsarelis

Vitamin D Receptor VDR Hairless gene HR gene atrichia hair loss hair follicles hair follicle cycling vitamin D resistant rickets Vitamin D Receptor Hairless gene hair loss hair follicles hair follicle cycling vitamin D resistant rickets

Studysummary This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.

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