TLDR Three genes linked to the development of trichilemmal cysts were found.
A genome-wide association study (GWAS) has identified three genetic loci that are associated with the development of trichilemmal cysts (TCs), which are keratin-filled nodules originating from the hair follicle. The study supports the previously proposed monoallelic two-hit model, where a germline variant in the PLCD1 gene (c.1379G>A, p.Ser460Leu) acts as a major risk allele for familial TCs. According to this model, a subsequent somatic mutation in the same allele of PLCD1 is necessary for the formation of each familial TC. This finding enhances the understanding of the genetic pathogenesis of hereditary trichilemmal cyst formation.
21 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
52 citations,
October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
5 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
5 citations,
January 2021 in “Frontiers in cell and developmental biology” Skin cysts might help advance stem cell treatments to repair skin.
7 citations,
March 2017 in “Journal of dermatology” The conclusion is that accurately identifying folliculosebaceous tumors requires understanding their clinical signs and microscopic features.
May 2020 in “International journal of dermatology and venereology” Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
