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.
Cited in this study
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