Autosomal Recessive Woolly Hair/Hypotrichosis With Homozygous Mutation in the LIPH Gene: A Case Report

    May 2025 in “ Dermatology Reports ”
    Khalid Alwunais, Jamal Alqahtani, Abdullah Ali N Aljalfan, Hind Alotaibi
    Studysummary In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.
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    Research cited in this study 4

    1. Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient Frontiers in medicine · 2024
    2. Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles Journal of Investigative Dermatology · 2016
    3. Autosomal Recessive Hypotrichosis Simplex With Woolly Hair: A Report of a New Family Dermatology Reports · 2011
    4. 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