Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients

    November 2025 in “ Clinical Cosmetic and Investigational Dermatology ”
    Can Cui, Xi Chen, Yingzi Zhang … Aihua Wei
    Studysummary LIPH mutations cause woolly hair in some Chinese people.
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    Research cited in this study 8

    1. ADAM17 Variant Causes Hair Loss via Ubiquitin Ligase TRIM47 Mediated Degradation JCI insight · 2024
    2. Botanical Extracts in Combination Improve Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Mutations Journal of cosmetic dermatology · 2022
    3. Novel Small-Insertion Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis Journal of dermatology · 2020
    4. Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles Journal of Investigative Dermatology · 2016
    5. Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient Journal of dermatology · 2013
    6. LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling The EMBO Journal · 2011
    7. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    8. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006