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PLCD1 and Pilar Cysts
Yutaka Shimomura1, Ryan O'Shaughnessy2, Neil Rajan3
1Department of Dermatology, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.
The Journal of Investigative Dermatology
|September 24, 2019
Abstract:
Trichilemmal or "pilar" cysts are commonly found on the scalp and are derived from the outer root sheath of the hair follicle. Multiple trichilemmal cysts present in an autosomal dominant pattern of inheritance, yet the genetic mechanism has remained elusive. In this issue, Hörer et al. (2019) highlight predisposing variants in PLCD1 in such families and propose a monoallelic mutational mechanism that drives cyst formation.
