5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”
This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
September 2016 in “Journal of Dermatological Science”
This case report describes the first documented instance of epidermal nevus syndrome caused by a postzygotic KRAS G12C mutation in a three-year-old Japanese girl.
53 citations
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January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”
In this study, reduced androgen receptor gene methylation and shorter CAG repeats in children with premature pubarche may lead to increased hair follicle sensitivity to steroid hormones, potentially causing early pubic hair development.
This review examines the genetics of acne vulgaris, concluding that stem/progenitor cell maintenance and cellular migration are key processes in its pathogenesis, potentially shifting future treatment strategies beyond traditional antibiotics and retinoids, which have notable side effects.