Diagnosis and Treatment of Isolated Autosomal Recessive Woolly Hair/Hypotrichosis

    December 2025 in “ Frontiers in Medicine ”
    Ying Xie, Sha Luo, Xin Zou … Nuo Li
    Studysummary This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
    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 16

    1. Mesenchymal Stem Cell Exosome Therapy for Acquired Trichorrhexis Nodosa: A Case Series Journal of Cosmetic Dermatology · 2024
    2. Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient Frontiers in medicine · 2024
    3. Effectiveness of Tofacitinib in Pre-Adolescent Alopecia Areata: A Retrospective Case Series and Literature Review Acta dermato-venereologica · 2023
    4. Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case Journal of dermatology · 2023
    5. Botanical Extracts in Combination Improve Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Mutations Journal of cosmetic dermatology · 2022
    6. Isolated Autosomal Recessive Woolly Hair/Hypotrichosis: Genetics, Pathogenesis, and Therapies JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology · 2021
    7. Novel Small-Insertion Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis Journal of dermatology · 2020
    8. 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
    9. Topical Minoxidil and Tretinoin Combined with an Oral Vitamin D Analog as a Treatment for Woolly Hair Dermatologic Therapy · 2016
    10. Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles Journal of Investigative Dermatology · 2016
    11. Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations British Journal of Dermatology · 2015
    12. The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    13. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010
    14. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    15. Phosphatidic Acid Has Potential to Promote Hair Growth In Vitro and In Vivo, and Activates Mitogen-Activated Protein Kinase/Extracellular Signal-Regulated Kinase Kinase in Hair Epithelial Cells ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2003
    16. Woolly Hair Nevus: A Rare Case with Late Onset in Adolescence Journal of The American Academy of Dermatology · 1990