Palmoplantar keratoderma with leukokeratosis anogenitalis caused by KDSR mutations

Hereditary keratodermas and ichthyoses comprise a large collection of genodermatoses for which underlying mutations in more than 100 genes have been identified (Oji et al., 2010). The implicated genes are involved in a multitude of biological pathways. Ceramides are important for cutaneous barrier function (Borodzicz et al., 2016) and cutaneous proliferation and differentiation (Uchida, 2014). In most organisms they are synthesized by three different biochemical pathways, named de novo, sphingomyelinase and salvage pathways (Hannun and Obeid, 2008, Kihara, 2016, Kitatani et al., 2008).

Source: Journal of Investigative Dermatology - January 23, 2020 Category: Dermatology Authors: Marcel Huber, Elena Chiticariu, Daniel Bachmann, Lukas Flatz, Daniel Hohl Tags: Letters to the Editor Source Type: research