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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 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 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 case study reports a peculiar variant of an epidermal cyst in a patient, featuring unique characteristics like brownish, lumpy contents resembling bone marrow.

This case study discusses a 36-year-old female diagnosed with a facial variant of eruptive vellus hair cyst, confirmed by skin biopsy, and highlights the importance of considering this condition in the differential diagnosis of asymptomatic facial papules.