Inherited Disorders of the Hair
November 2024
in “
Elsevier eBooks
”
Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
Research cited in this study
72 / 72 results
research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.
research Dermal Adipose Tissue Secretes HGF to Promote Human Hair Growth and Pigmentation
This study demonstrates that dermal white adipose tissue regulates human hair growth and pigmentation through hepatocyte growth factor secretion, highlighting potential therapeutic targets for hair-related disorders.
research Knockdown of FOXA2 Impairs Hair-Inductive Activity of Cultured Human Follicular Keratinocytes
This study found that the trichogenicity of cultured human outer root sheath follicular keratinocytes decreased with longer cultivation periods and was significantly influenced by the expression of the transcription factor FOXA2.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
research A Subset of TREM2+ Dermal Macrophages Secretes Oncostatin M to Maintain Hair Follicle Stem Cell Quiescence and Inhibit Hair Growth
This study found that Oncostatin M, via JAK-STAT5 signaling, keeps hair follicle stem cells inactive, and its removal leads to hair growth initiation in mice.
research Genome-Wide Association Study in Frontal Fibrosing Alopecia Identifies Four Susceptibility Loci Including HLA-B*07:02
This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.
research Hypotrichosis With Juvenile Macular Dystrophy
This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
research GWAS for Male-Pattern Baldness Identifies 71 Susceptibility Loci Explaining 38% of the Risk
This genome-wide association study identified 71 genetic loci linked to male pattern baldness, with 30 novel loci, explaining 38% of the risk and suggesting shared pathways with lifespan and cancer traits.
research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation
This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.
research Meta-Analysis Identifies Novel Risk Loci and Yields Systematic Insights into the Biology of Male-Pattern Baldness
This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
research FOXN1 Duplication And Congenital Hypertrichosis
This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.
research Genetic Prediction of Male Pattern Baldness
In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females
This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
research The Role of P-Cadherin in Skin Biology and Pathology: Lessons from the Hair Follicle
This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.
research Novel KRT83 and KRT86 Mutations Associated with Monilethrix
This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
research Macrophages Contribute to the Cyclic Activation of Adult Hair Follicle Stem Cells
This study found that macrophages near hair follicles contribute to the activation of skin epithelial stem cells in mice, suggesting a novel role for macrophages in regulating hair growth.
research Resting No More: Redefining Telogen, the Maintenance Stage of the Hair Growth Cycle
This article explores the dynamic and energy-efficient nature of telogen hair follicles, challenging the notion of dormancy, and highlights their potential in advancing treatments for hair growth disorders.
research Alopecia Areata Is Driven by Cytotoxic T Lymphocytes and Is Reversed by JAK Inhibition
This study found that JAK inhibitors promote hair regrowth in both mice and human alopecia areata cases by blocking key immune pathways involved in disease development.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
research Marie-Unna Hereditary Hypotrichosis
This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.
research Mutation Detection of Type II Hair Cortex Keratin Gene KRT86 in a Chinese Han Family With Congenital Monilethrix
This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
research Loose Anagen Hair Syndrome in Black-Haired Indian Children
This article reviews loose anagen hair syndrome, an inheritable hair disorder affecting children and sometimes adults, but does not report any new clinical results.
research Position Effect on FGF13 Associated with X-Linked Congenital Generalized Hypertrichosis
This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
research Androgenetic Alopecia: Identification Of Four Genetic Risk Loci And Evidence For The Contribution Of WNT Signaling To Its Etiology
Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
research Desmogleins: Hair Perspective
This study found that the distribution of desmogleins is associated with specific types of keratinization and hair anchorage, as well as hypotrichosis.
research Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases
This study found that early-onset androgenetic alopecia in individuals of European ancestry is significantly associated with increased odds of Parkinson's disease and is influenced by specific genetic loci, including some linked to reduced fertility.
research Cantú Syndrome Is Caused by Mutations in ABCC9
This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
research Dermal β-Catenin Activity in Response to Epidermal Wnt Ligands Is Required for Fibroblast Proliferation and Hair Follicle Initiation
In this mouse study, researchers found that dermal Wnt signaling/β-catenin activity is essential for fibroblast proliferation and initiating hair follicle formation by interacting with epidermal Wnt ligands.
research Susceptibility Variants on Chromosome 7p21.1 Suggest HDAC9 as a New Candidate Gene for Male-Pattern Baldness
This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
research Adipocyte Lineage Cells Contribute to the Skin Stem Cell Niche to Drive Hair Cycling
This study found that intradermal adipocyte lineage cells in mice are necessary and sufficient to activate follicular stem cells, highlighting their role in regulating skin stem cell activity.
research LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling
The enzyme PA-PLA1α is important for proper hair follicle development.
research Marie-Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
This report describes a new case of Marie-Unna hereditary hypotrichosis in an 18-year-old girl, marking the first occurrence in a previously unaffected family.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
research Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families
research Keratin Gene Mutations in Disorders of Human Skin and Its Appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity
This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.
research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Loose Anagen Hair Syndrome
This review discusses the diagnostic criteria and guidelines for managing loose anagen syndrome and differentiating it from non-scarring alopecias, but it reports no new clinical results.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis
In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
research Susceptibility Variants for Male-Pattern Baldness on Chromosome 20p11
research Male-Pattern Baldness Susceptibility Locus at 20p11
In their study, Tim Spector and colleagues identified a new genetic association at chromosome 20p11.22 with male-pattern baldness, confirmed by the increased risk when combined with a known androgen receptor gene variant.
research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice
This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
research Dlx3 Is a Crucial Regulator of Hair Follicle Differentiation and Cycling
This research found that Dlx3 plays a central role in hair formation and regeneration, with its absence leading to alopecia through disrupted differentiation and signaling pathways.
research The Human Keratins: Biology And Pathology
This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.
research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair
This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family
The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.
research Hair Follicle-Specific Keratins And Their Diseases
This review discusses hair keratins and hair follicle-specific epithelial keratins and their association with inherited hair disorders, reporting no new clinical results.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type
This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
research Edar Signaling in the Control of Hair Follicle Development
This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.
research Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling
In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.
research Keratins of the Human Hair Follicle
More research is needed to understand how hair keratins work and their role in hair disorders.
research Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling
This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Is Loose Anagen Hair Syndrome a Keratin Disorder?
This study found that a keratin mutation may cause diffuse partial woolly hair associated with loose anagen hair syndrome in some families, but other genetic factors could play a role in different cases.
research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression
This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.
research The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor
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
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 Forkhead/Winged-Helix Transcription Factor Whn Regulates Hair Keratin Gene Expression: Molecular Analysis of the Nude Skin Phenotype
This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research A New Case of Ambras Syndrome Associated with a Paracentric Inversion (8) (q12; q22)
This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.
research Alopecia Universalis Associated With a Mutation in the Human Hairless Gene
This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.
research Uncombable Hair (Pili Trianguli Et Canaliculi): Evidence for Dominant Inheritance with Complete Penetrance Based on Scanning Electron Microscopy
This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.
Similar Research
5 / 1000+ resultsresearch Inherited Hair Disorders
This discussion highlights the genetic and phenotypic variability in inherited hair disorders and emphasizes the importance of accurate diagnosis due to potential systemic manifestations; no new clinical results are reported.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research The genetics of hair shaft disorders
This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
research To grow or not to grow: Hair morphogenesis and human genetic hair disorders
This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
research Hair Shaft Disorders
This article reviews various congenital and acquired hair shaft disorders, examining their characteristics and potential links to wider health conditions, but does not present any new clinical results.