Inherited Disorders of the Hair

January 2013 in “ Elsevier eBooks ”

Mazen Kurban, Angela M. Christiano

TLDR The document explains the genetic causes and characteristics of inherited hair disorders.

The document from January 1, 2013, provides a comprehensive overview of inherited hair disorders, focusing on the genetic and molecular mechanisms underlying these conditions. It discusses the role of various genes and signaling pathways, such as WNT10A, APCDD1, EDA-A1/EDAR/EDARADD, and keratins, in the development of hair follicle-related abnormalities. Conditions such as Schöpf-Schulz-Passarge syndrome, hereditary hypotrichosis simplex, hypohidrotic ectodermal dysplasia, monilethrix, and autosomal dominant woolly hair are described with their respective genetic mutations and clinical features. The document also addresses disorders involving desmosomes, cardiocutaneous diseases, and the LIPH/LPA/LPAR6 signaling pathway. Additionally, it covers hair pigmentation disorders, trichorrhexis nodosa, pili torti, and trichothiodystrophy, as well as metabolic diseases like acrodermatitis enteropathica and biotinidase deficiency. Hypertrichosis is discussed in both generalized and patchy forms, with various syndromes and their genetic causes. The document also touches on polygenic diseases such as Alopecia Areata and Androgenetic Alopecia, highlighting the importance of genetic research in understanding these conditions. However, the document does not provide specific study numbers or results, as it focuses on rare genetic disorders with varying prevalence.

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research Biology and Genetics of Hair

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The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.

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

199 citations , April 2010 in “Nature”

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

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Mutations in the KRT85 gene cause hair and nail problems.

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13 citations , February 2010 in “Journal of Dermatological Science”

A gene mutation causes woolly hair in a Syrian patient.

research Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation

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Desmoglein 4 is controlled by specific proteins that affect hair growth.

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Hair shedding is an active process that could be targeted to treat hair loss.

research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

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WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

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181 citations , January 2009 in “Nature Genetics”

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research Male-Pattern Baldness Susceptibility Locus at 20p11

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research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice

60 citations , August 2008 in “Human molecular genetics online/Human molecular genetics”

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

research Genome-Wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26

62 citations , March 2008 in “American Journal of Human Genetics”

Hair loss gene found on chromosome 3q26.

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

210 citations , February 2008 in “Nature genetics”

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

research Hair Follicle-Specific Keratins And Their Diseases

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Only a few hair-specific keratins are linked to inherited hair disorders.

research The Wnt Inhibitor, Dickkopf 4, Is Induced by Canonical Wnt Signaling During Ectodermal Appendage Morphogenesis

96 citations , May 2007 in “Developmental biology”

The study found that the protein Dkk4 helps regulate hair growth by controlling Wnt signaling in mice.

research Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation

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The HR protein's role as a repressor is essential for controlling hair growth.

research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene

19 citations , September 2006 in “Clinical and Experimental Dermatology”

Researchers found a new mutation causing total hair loss from birth.

research The Catalog of Human Hair Keratins

235 citations , July 1999 in “Journal of biological chemistry/The Journal of biological chemistry”

Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.

research The secret life of the hair follicle

745 citations , February 1992 in “Trends in genetics”

Hair follicles create different cell layers and proteins, controlled by various molecules.

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research Common Dermatologic Conditions

14 citations , May 2014 in “Medical Clinics of North America”

The document concludes that quick referral and appropriate treatments are crucial for managing common skin conditions and preventing permanent damage.