Ichthyosis and neutral lipid storage disease

Am J Med Genet. 1988 Feb;29(2):377-82. doi: 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.

Publication types

  • Case Reports

MeSH terms

  • Genes, Recessive
  • Genetic Carrier Screening
  • Humans
  • Ichthyosis / genetics
  • Ichthyosis / metabolism*
  • Ichthyosis / pathology
  • Leukocytes / pathology
  • Lipid Metabolism, Inborn Errors / genetics*
  • Pedigree
  • Vacuoles / pathology