Chanarin?Dorfman Syndrome: A comprehensive review

The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This associated with decrease in the lipolysis activity multiple tissue cells because of recessive mutations abhydrolase domain containing 5 (ABHD5) gene, which leads to accumulation lipid droplets types cells. Major clinical symptoms patients CDS include ichthyosis and intracytoplasmic droplets. variability depends on large number involved. In this syndrome, liver involvement an important cause mortality morbidity. review aims summarize demographic characteristic, symptoms, literature date.