Molecular Basis of Hereditary Hair Diseases

January 2023 in “ The Keio Journal of Medicine ”

Yutaka Shimomura

hereditary hair diseases genes hair follicles autosomal recessive woolly hair lipase H LIPH gene Marie-Unna hereditary hypotrichosis hypohidrotic ectodermal dysplasia tricho–rhino–phalangeal syndrome hair follicle development morphogenesis woolly hair Marie-Unna hypotrichosis ectodermal dysplasia hair development

TLDR Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.

The document discusses the molecular basis of hereditary hair diseases, focusing on the role of specific genes expressed in hair follicles. It highlights that variants in these genes can cause hereditary hair diseases, which are categorized into non-syndromic and syndromic forms. The most common non-syndromic form in the Japanese population is autosomal recessive woolly hair, caused by pathogenic variants in the lipase H (LIPH) gene. Other types of hereditary hair diseases in Japan include Marie-Unna hereditary hypotrichosis, hypohidrotic ectodermal dysplasia, and tricho–rhino–phalangeal syndrome. The study emphasizes the importance of understanding these disorders for correct diagnosis and patient care. It also suggests that further research into the molecular basis of these diseases can reveal crucial genes for hair follicle development and morphogenesis in humans.

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Research cited in this study

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research Molecular Basis of Hereditary Hair Diseases

January 2023 in “The Keio Journal of Medicine”

Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

41 citations, November 2011 in “The Journal of Dermatology”

Some hair loss disorders are caused by genetic mutations affecting hair growth.

Molecular Basis of Hereditary Hair Diseases

Research cited in this study

research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

research Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants

research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

research Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice

research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

research Trichorhinophalangeal Syndrome with Low Expression of TRPS1 on Epidermal and Hair Follicle Epithelial Cells

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

research Biology and Genetics of Hair

research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Identification of Dkk4 as a Target of Eda-A1/Edar Pathway Reveals an Unexpected Role of Ectodysplasin as Inhibitor of Wnt Signaling in Ectodermal Placodes

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