Article
Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene.
The Journal of investigative dermatology - 1 Sept 2001
Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, Christiano A M, Holick M, Cotsarelis G
Abstract excerpt
Generalized atrichia with papules is a rare disorder characterized by loss of hair shortly after birth and development of cutaneous cysts. Mutations in the hairless gene (HR) cause this phenotype in both mouse and human. Here we present a case of atrichia with papules in a patient with a normal HAIRLESS gene but with mutations in both alleles of the VITAMIN D RECEPTOR. The patient exhibited vitamin D resistant...
Topics
- Alopecia
- Female
- Humans
- Middle Aged
- Mutation
- Proteins
- Receptors, Calcitriol
- Transcription Factors