A Review of Genotrichoses and Hair Pathology Associated with Inherited Skin Diseases

    March 2023 in “ British Journal of Dermatology ”
    Brent J. Doolan, Tuntas Rayinda, Frank Po‐Chao Chiu … Alexandros Onoufriadis
    Studysummary This review highlights the significant role of next-generation sequencing in uncovering the genetic basis of hair disorders, identifying 28 nonsyndromic conditions linked to specific genes.
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    Research cited in this study 26

    1. Beyond The Hot Comb: Updates In Epidemiology, Pathogenesis, And Treatment Of Central Centrifugal Cicatricial Alopecia From 2011 To 2021 American Journal of Clinical Dermatology · 2022
    2. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2022
    3. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants JAMA Dermatology · 2020
    4. The Role of the Microbiome in Scalp Hair Follicle Biology and Disease Experimental Dermatology · 2019
    5. Genome-Wide Association Study in Frontal Fibrosing Alopecia Identifies Four Susceptibility Loci Including HLA-B*07:02 Nature Communications · 2019
    6. Variant PADI3 in Central Centrifugal Cicatricial Alopecia The New England Journal of Medicine · 2019
    7. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018
    8. Fibroproliferative Genes Are Preferentially Expressed in Central Centrifugal Cicatricial Alopecia Journal of The American Academy of Dermatology · 2018
    9. Alopecia Areata: A Review of Disease Pathogenesis British journal of dermatology/British journal of dermatology, Supplement · 2018
    10. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016
    11. A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair Journal of Medical Genetics · 2015
    12. Frontal Fibrosing Alopecia: A Multicenter Review of 355 Patients Journal of The American Academy of Dermatology · 2014
    13. Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012
    14. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    15. Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families Human Genetics · 2010
    16. Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures Genomics · 2010
    17. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    18. The Hair Follicle as a Dynamic Mini-Organ Current Biology · 2009
    19. Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis Nature Genetics · 2009
    20. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    21. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    22. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006
    23. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998
    24. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998
    25. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    26. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997

    Related research 5

    1. A Review of Genotrichoses and Hair Pathology Associated with Inherited Skin Diseases British Journal of Dermatology · 2023
    2. Hair Disorders Harper's Textbook of Pediatric Dermatology · 2019
    3. Hypotrichosis With Juvenile Macular Dystrophy International Journal of Trichology · 2018
    4. Value of Dermoscopy for the Diagnosis of Monilethrix Dermatology online journal · 2017
    5. Disorders of Hair Growth: Diagnosis and Treatment McGraw-Hill eBooks · 1994