Abstract

Trichilemmal cysts (TC), also known as pilar cysts, are keratin-filled, subepidermal nodules originating from the outer root sheath of the hair follicle (Leppard et al., 1977). TCs occur sporadically or in an autosomal dominant fashion (Seidenari et al., 2013). Recently, a monoallelic two-hit model affecting PLCD1 was proposed to explain the inheritance of hereditary TCs (Hörer et al., 2019; Yousaf et al., 2021). A germline variant in PLCD1 (c.1379G>A, p.Ser460Leu) was identified as the major risk allele for familial TCs.

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