Jordans’ anomaly in Chanarin-Dorfman syndrome

Chanarin-Dorfman syndrome is characterized by a mutation in the <i>CGI-58</i> gene. This gene is involved in the catabolism of long-chain triglycerides stored in cytoplasmic lipid droplets. Jordans' anomaly is a congenital alteration characterized by the presence of multiple vacuoles in the granulocytic series due to defective lipid metabolism. In this syndrome, long-chain triglycerides build up in tissues, thereby causing dermatological manifestations that are controllable through diet.