Neutral lipid storage disease

Neutral lipid storage disease, also known as Chanarin-Dorfman syndrome, is a congenital autosomal recessive disorder in which triglycerides build up inside the cells of several tissues, including white blood cells, muscle, liver and fibroblasts. The white cell finding is called the Jordans anomaly. It commonly occurs in two subtypes: a myopathic form in which muscle disease predominates, linked to mutations in the ATGL or PNPLA2 gene, and an ichthyotic form, in which scaling skin predominates, linked to the CGI-58 gene. The ichthyosis is typically a non-bullous congenital ichthyosiform erythroderma with white scaling. Affected people are not typically obese. The atlas records the condition as a description of the disorder and its genetics, not as medical advice.