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Case Reports
. 1988 Feb;29(2):377-82.
doi: 10.1002/ajmg.1320290219.

Ichthyosis and neutral lipid storage disease

S Musumeci  1 , A D'Agata, C Romano, R Patané, D Cutrona
Affiliations
Case Reports

Ichthyosis and neutral lipid storage disease

S Musumeci et al. Am J Med Genet. 1988 Feb.

Abstract

A boy with a lipid storage disease characterized by lamellar ichthyosis, cataracts, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family. This patient shows all the characteristics of ichthyosis and neutral lipid storage disease (Chanarin-Dorfman syndrome). Family data confirm an autosomal recessive inheritance; the heterozygotes may be detected by the presence of vacuoles in circulating eosinophils.

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