We recently found that AcylCer deficiencies occur in Dorfman–Chanarin syndrome (DCS), an autosomal recessive, neutral lipid storage disorder with ichthyosis, due to loss-of-function mutations in CGI-58 (α/β-hydrolase domain containing protein 5, ABHD5) in human skin [44]. The gene discussed is ABHD5; the disease is Dorfman-Chanarin disease.