Case Reports
doi: 10.1002/ajmg.1320290219.
Ichthyosis and neutral lipid storage disease
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- PMID: 3354610
- DOI: 10.1002/ajmg.1320290219
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Case Reports
Ichthyosis and neutral lipid storage disease
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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