In humans, fourteen mutations to GJB4 encoding thirteen missense mutant proteins have been clinically linked to EKVP (Macari et al., 2000; Richard et al., 2003; Common et al., 2005; Van Steensel et al., 2009; Scott et al., 2011; Kokotas et al., 2012; Liu et al., 2012; Sbidian et al., 2013; Ishida-Yamamoto, 2016; Yoshikata-Isokawa et al., 2016; Dai et al., 2020; Zhang et al., 2021) demonstrating an important role for Cx30.3 in the human epidermis. Here, GJB4 is linked to erythrokeratodermia variabilis.