Genetic Hair and Nail Disorders

January 2005 in “ Clinics in dermatology ”

Eli Sprecher

hair follicles hair morphogenesis hair cycling hair shaft structure congenital nail dysplasia pachyonychia congenita type 1 pachyonychia congenita type 2

Studysummary This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

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Research cited in this study

17 / 17 results

research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

52 citations , November 2003 in “Journal of Investigative Dermatology”

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia

26 citations , October 2002 in “Journal of Investigative Dermatology”

This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.

research The Hairless Gene in Androgenetic Alopecia: Results of a Systematic Mutation Screening and a Family-Based Association Approach

15 citations , April 2002 in “British Journal of Dermatology”

This study found no strong evidence that the human hairless gene is significantly involved in the development of androgenetic alopecia, though a minor role cannot be completely ruled out.

research Mice Lacking Desmocollin 1 Show Epidermal Fragility Accompanied by Barrier Defects and Abnormal Differentiation

195 citations , November 2001 in “The Journal of Cell Biology”

This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.

research The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor

178 citations , October 2001 in “Genes & Development”

This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.

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

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

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.

research Towards a Molecular Understanding of Hair Loss and Its Treatment

236 citations , July 2001 in “Trends in Molecular Medicine”

This review discusses common hair loss conditions and explores how advancements in hair follicle biology might lead to more effective treatments but reports no new results.

research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene

2 citations , June 2000 in “Journal of The American Academy of Dermatology”

In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.

research A Novel Missense Mutation (C622G) in the Zinc-Finger Domain of the Human Hairless Gene Associated with Congenital Atrichia with Papular Lesions

47 citations , April 2000 in “Experimental Dermatology”

This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.

research Ornithine Decarboxylase Transgenic Mice as a Model for Human Atrichia with Papular Lesions

20 citations , April 2000 in “Experimental dermatology”

This study observed that overexpression of the enzyme ODC in transgenic mice caused hair loss and skin changes similar to human papular atrichia, suggesting that ODC might be involved in a critical hair follicle function pathway.

research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia

66 citations , December 1999 in “Journal of Investigative Dermatology”

New mutations in the hairless gene may cause hair loss and affect bone development.

research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

62 citations , October 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia

37 citations , August 1999 in “Journal of Investigative Dermatology”

This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.