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This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.

This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.

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.

This case report documents a rare instance of a trichilemmal cyst occurring on the plantar surface of the foot, highlighting the necessity of histological examination for accurate diagnosis when clinical or radiological presentations are atypical.

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.