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

The document discussed the development and genetic disorders of hair and nails. Hair follicles begin forming in the 10th week of gestation, influenced by mesodermal and ectodermal interactions, while nail development starts around the 9th week and completes by the fifth month. Various genetic disorders affect hair and nails, including disorders of hair morphogenesis, cycling, and shaft structure, as well as isolated congenital nail dysplasia and pachyonychia congenita types 1 and 2. Advances in understanding the molecular basis of these disorders have improved diagnosis and provided options for premarital counseling and prenatal diagnosis, significantly impacting affected families.

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

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

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

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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”

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

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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.

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