Diagnosis and Treatment of Isolated Autosomal Recessive Woolly Hair/Hypotrichosis

    December 2025 in “ Frontiers in Medicine
    Ying Xie, Sha Luo, Xin Zou, Meijiao Du, Cancan Qi, Nuo Li
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    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. Our plain-language summary of this paper — not a Tressless recommendation.
    Isolated autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare congenital disorder characterized by sparse, tightly curled hair, primarily caused by mutations in the LIPH and LPAR6 genes. The prevalence of specific mutations varies by region, with notable founder mutations identified in Japan, Pakistan, Russia, and China. While no definitive treatment exists, potential therapies include minoxidil, gentamicin, regenerative therapies, and plant-derived compounds. The study highlights the significance of genetic founder effects and population-specific variations in the pathogenesis of ARWH.
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