293 Pityriasis rubra pilaris type V with a heterozygous mutation in CARD14

Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory skin disorder clinically characterized by keratotic follicular papules, well-demarcated scaly erythematous plaques interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. The autosomal dominant subtype, which is classified as PRP type V (PRPV), is associated with gain-of-function mutations in CARD14. Although around 30 cases with PRPV have been reported in the literature, diagnosis and treatment remain difficult.

Source: Journal of Investigative Dermatology - August 31, 2019 Category: Dermatology Authors: T. Miyauchi, T. Nomura, S. Suzuki, M. Takeda, J. Peh, K. Natsuga, Y. Fujita, W. Nishie, M. Akiyama, H. Shimizu Tags: Genetics and Cell Based Therapy Source Type: research