ABHD5 and Dorfman-Chanarin disease: In humans, function-perturbing mutations in CGI58 cause neutral lipid storage disease with ichthyosis (NLSDI, also known as Chanarin-Dorfman syndrome), a rare autosomal recessive and severe multiorgan TG accumulation disease (43–46), in which the skin phenotype reflects the absence of the acylceramide intermediates essential for skin cornification (47).