36 citations
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March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
June 2026 in “Research Square” This report on a case of alopecia areata in a mother and daughter with a 16-year gap suggests genetic predisposition and environmental triggers rather than direct transmission.
21 citations
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September 1997 in “British Journal of Dermatology” This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.
September 2017 in “PubMed” In this case report, a Danish family with monilethrix showed varying symptoms, diagnosed via dermatoscopy, microscopy, and gene sequencing. The study highlights that while no cure exists, oral minoxidil shows promise in a single case, and reducing hair trauma remains key for management.
4 citations
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January 2014 in “Indian dermatology online journal” This article discusses the genetic hair disorder monilethrix, characterized by beaded, fragile hair due to defective keratin genes, and reports no effective treatment currently available; variability in severity was noted among affected siblings.