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Definition

An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.

Acronym

CDS

Synonyms

DCS
Dorfman-Chanarin syndrome
Ichthyosiform erythroderma with leukocyte vacuolation
Ichthyotic neutral lipid storage disease
Neutral lipid storage disease with ichthyosis
Triglyceride storage disease with impaired long-chain fatty acid oxidation

Keywords

Deafness
Cataract
Ichthyosis

 
Disclaimer

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Main funding by: National Institutes of Health

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