Chanarin-Dorfman syndrome

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Chanarin-Dorfman syndrome2016-11-25T07:49:28+00:00

Chanarin-Dorfman syndrome 

METABOLISM

Definition Chanarin-Dorfman syndrome is an autosomal recessive inborn error of lipid metabolism (OMIM:275630) with systemic accumulation of triglycerides.

Clinical findings Congenital generalised ichthyosis, hepatosplenomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay, which presents at birth with generalised, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.

Lab Normal serum triglyceride levels, vacuolated leukocytes. 

Synonyms Chanarin-Dorfman disease, Dorfman-Chanarin syndrome, ichthyosiform erythroderma with leukocyte vacuolation, ichthyotic neutral lipid storage disease, neutral lipid storage disease, neutral lipid storage disease with ichthyosis, NLSDI, triglyceride storage disease with impaired long-chain fatty oxidation 

References http://www.uniprot.org/uniprot/Q8WTS1

http://www.omim.org/entry/275630 

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