Chanarin-Dorfman Syndrome is a rare condition with accumulation of triglyceride droplets in multiple organs.

Inheritance: autosomal recessive


Chromosome: 3p21.33

Gene: ABHD5 (abhydrolase domain containing 5,lysophosphatidic acyltransferase), also known as CG1-58

Effect: defect in lipolysis, with accumulation of long-chain fatty acids (triacylglycerol)


Clinical features:

(1) congenital non-bullous ichthyosiform erythroderma (NCIE)

(2) Jordans' anomaly (lipid droplets in the cytoplasm of granulocytes)

(3) lipid droplets in the cells of multiple organs

(4) non-alcoholic fatty liver disease (NAFLD) which may progress to cirrhosis

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