March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
8 citations
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April 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This case report details the first pediatric occurrence of naevus trichilemmocysticus, a newly defined type of organoid naevus.
9 citations
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December 2012 in “Indian Journal of Dermatology Venereology and Leprology” This study reports a rare case of a 40-year-old woman with multiple calcified trichilemmal cysts, associated with alopecia universalis and suggesting a potential genetic link.
44 citations
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January 1999 in “Dermatology” This article reviews different perspectives on nevus comedonicus, discussing its classification and potential associations with systemic findings, but it reports no new results.
38 citations
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June 2005 in “International Journal of Dermatology” This case report describes a 28-year-old man with widespread pigmented basal cell carcinomas and recurrent infections that were challenging to control, associated with nevus comedonicus and a rudimentary toe.