Neutral lipid storage disease with ichthyosis (NLSD)

Chanarin-Dorfman syndrome is also known as neutral lipid storage disease with ichthyosis. Clinically, it is an autosomal recessive form of non-bullous congenital ichthyosiform eryhthroderma (NCIE), demonstrating fine white scaling on an erythematous background. Babies with Chanarin-Dorfman may be born with a collodion membrane, and cases have been reported with bilateral ectropion and eclabion. Hair, nails, teeth, and mucosa are normal. In addition to NCIE, however, affected individuals have other organ involvement, the most frequent of which is hepatomegaly and liver steatosis. Muscle weakness, ataxia, neurosensory hearing loss, eye findings (subcapsular cataracts, nystagmus and strabismus), and mental retardation may also be present. Histologically, intracellular lipid droplets are found in most tissues and confirmation of the diagnosis can be made on a peripheral blood smear to evaluate the presence of these lipid vacuoles in granulocytes.