Skin and Hair Abnormalities of Cantu Syndrome: A Congenital Hypertrichosis Due to a Genetic Alteration Mimicking the Pharmacological Effect of Minoxidil

    January 2020 in “ Journal of Dermatology
    Kentaro Ohko, Kimiko Nakajima, Hideki Nakajima, Yoko Hiraki, Kazuo Kubota, Toshiyuki Fukao, Satoko Miyatake, Naomichi Matsumoto, Shigetoshi Sano
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    TLDR Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
    In 2020, a study on three Japanese patients with Cantu syndrome, a disorder marked by excessive hair growth, facial anomalies, and enlarged heart, found that the syndrome is caused by mutations in the ABCC9 gene. This gene regulates SUR2, a potassium channel opener expressed in hair follicles. The patients showed skin manifestations like excessive hair growth and multiple creases in their palm and foot skin. Abnormalities were also found in their hair follicles and sebaceous glands. The study concluded that future analysis of these functional aberrations could lead to new treatments for hair diseases, including alopecia and hirsutism.
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      community Being Safe on Oral Minoxidil: tl;dr on the literature.

      in Research/Science  47 upvotes 1 week ago
      Oral minoxidil is effective for hair loss but can cause cardiovascular side effects, such as pericardial effusion, especially in those with genetic predispositions. Starting with low doses and monitoring cardiovascular health are advised to reduce risks.

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