Ichthyosis and neutral lipid storage disease
- 1 February 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 29 (2), 377-382
- https://doi.org/10.1002/ajmg.1320290219
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.Keywords
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