Article
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.
The British journal of dermatology - 1 Oct 2005
Pujol R M, Gilaberte M, Toll A, Florensa L, Lloreta J, González-Enseñat M A, Fischer J, Azon A
Abstract excerpt
Neutral lipid storage disease (Chanarin-Dorfman syndrome) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids (lipid droplets) in various types of cells. The clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a 4-year-old boy presenting a generalized...
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