Gene Detection in a Family With Monilethrix and Observation of the Treatment Effect With 5% Topical Minoxidil

    September 2022 in “ Research Square (Research Square)
    Qingli Shen, Zhong-Hua Fu, Pengqiang Du, Jianbo Wang
    TLDR 5% topical minoxidil improves hair density and quality in monilethrix patients.
    The study identified the heterozygous missense variant c.1204G>A (p.E402K) in the KRT86 gene as the causative mutation in a family with monilethrix, which was not present in the mother or 100 unrelated healthy controls. The proband treated with 5% topical minoxidil showed significant improvement in hair density and hair shaft quality after six months, with no adverse events. The p.E402K mutation is suggested to be a "hotspot" for autosomal dominant monilethrix in China, and 5% topical minoxidil is confirmed to be a safe and effective treatment.
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