148 citations
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May 2012 in “The American Journal of Human Genetics”
This study identified heterozygous mutations in the ABCC9gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
7 citations
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January 2020 in “Journal of Dermatology”
This study described specific skin and hair follicle abnormalities in three Japanese patients with Cantu syndrome, which may relate to the regulation role of SUR2 in hair follicle growth.
This article analyzes the potential for insights from monogenic disorders to inform the understanding and treatment of common polygenic diseases, though complete predictability based on genotype remains unrealistic.
3 citations
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February 2022 in “Journal of Dermatological Science”
This study identified clinical features and genetic variants associated with early onset female pattern hair loss, highlighting decreased hair shaft density and specific SNPs related to androgenic features.
This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
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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