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 œjournal of investigative dermatology/Journal of investigative dermatology ”
    Jeffrey M. Miller, Karima Djabali, Thomas Chen … George Cotsarelis
    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.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on jidonline.org →
    Discuss this study in the Community →

    Research cited in this study 18

    1. Hair Follicle Expression of 1,25-Dihydroxyvitamin D3 Receptors During the Murine Hair Cycle British Journal of Dermatology · 2006
    2. Morphogenesis and Renewal of Hair Follicles from Adult Multipotent Stem Cells Cell · 2001
    3. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and Its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000
    4. Evaluation of Keratinocyte Proliferation and Differentiation in Vitamin D Receptor Knockout Mice Endocrinology · 2000
    5. A Novel Missense Mutation (C622G) in the Zinc-Finger Domain of the Human Hairless Gene Associated with Congenital Atrichia with Papular Lesions Experimental Dermatology · 2000
    6. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999
    7. The Biology of Hair Follicles The New England Journal of Medicine · 1999
    8. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999
    9. The Role of the Hairless (Hr) Gene in the Regulation of Hair Follicle Catagen Transformation American Journal Of Pathology · 1999
    10. Cytokeratin 15 Expression in Trichoepitheliomas and a Subset of Basal Cell Carcinomas Suggests They Originate from Hair Follicle Stem Cells Journal of Cutaneous Pathology · 1999
    11. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998
    12. Normalization of Mineral Ion Homeostasis by Dietary Means Prevents Hyperparathyroidism, Rickets, and Osteomalacia, But Not Alopecia in Vitamin D Receptor-Ablated Mice Endocrinology · 1998
    13. Molecular and Functional Aspects of the Hairless (Hr) Gene in Laboratory Rodents and Humans Experimental Dermatology · 1998
    14. Towards Defining the Pathogenesis of the Hairless Phenotype Journal of Investigative Dermatology · 1998
    15. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998
    16. Analysis of the Relation Between Alopecia and Resistance to 1,25-Dihydroxyvitamin D Clinical Endocrinology · 1986
    17. Calcitriol-Resistant Rickets With Alopecia Archives of Dermatology · 1985
    18. Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D Clinical endocrinology · 1981