Isolated Autosomal Recessive Woolly Hair/Hypotrichosis: Genetics, Pathogenesis, and Therapies

    Masashi Akiyama
    Studysummary This study suggests that topical minoxidil may be a promising treatment for isolated autosomal recessive woolly hair due to LIPH mutations, although effective treatments are not yet established.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 25

    1. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants JAMA Dermatology · 2020
    2. Minoxidil And Its Use In Hair Disorders: A Review Drug Design Development and Therapy · 2019
    3. Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review The Journal of Dermatology · 2018
    4. Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation British journal of dermatology/British journal of dermatology, Supplement · 2016
    5. Prognosis and Management of Congenital Hair Shaft Disorders Without Fragility—Part II Pediatric Dermatology · 2016
    6. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016
    7. Topical Minoxidil and Tretinoin Combined with an Oral Vitamin D Analog as a Treatment for Woolly Hair Dermatologic Therapy · 2016
    8. Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles Journal of Investigative Dermatology · 2016
    9. A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair Journal of Medical Genetics · 2015
    10. Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations British Journal of Dermatology · 2015
    11. Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations PloS one · 2014
    12. Clinical Effects of Non-Ablative and Ablative Fractional Lasers on Various Hair Disorders: A Case Series of 17 Patients Journal of Cosmetic and Laser Therapy · 2013
    13. The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    14. Prevalent Founder Mutation c.736T>A of LIPH in Autosomal Recessive Woolly Hair of Japanese Leads to Variable Severity of Hypotrichosis in Adulthood JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology · 2012
    15. Congenital Hair Loss Disorders: Rare, But Not Too Rare The Journal of Dermatology · 2011
    16. LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling The EMBO Journal · 2011
    17. Identification of 736T>A Mutation of Lipase H in Japanese Siblings with Autosomal Recessive Woolly Hair Journal of dermatology · 2011
    18. A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient Journal of Dermatological Science · 2009
    19. Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, P2Y5/LPA6 Journal of Biological Chemistry · 2009
    20. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    21. Adenosine Stimulates Fibroblast Growth Factor-7 Gene Expression Via Adenosine A2b Receptor Signaling in Dermal Papilla Cells ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2007
    22. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    23. Minoxidil: Mechanisms of Action on Hair Growth British Journal of Dermatology · 2004
    24. Minoxidil-Induced Hair Growth Is Mediated by Adenosine in Cultured Dermal Papilla Cells: Possible Involvement of Sulfonylurea Receptor 2B as a Target of Minoxidil Journal of Investigative Dermatology · 2001
    25. Mice With a Null Mutation of the TGFα Gene Have Abnormal Skin Architecture, Wavy Hair, and Curly Whiskers and Often Develop Corneal Inflammation Cell · 1993