Ichthyosis and neutral lipid storage disease

M. L. Williams, T. K. Koch, J. J. O'Donnell, P. H. Frost, L. B. Epstein, W. S. Grizzard, C. J. Epstein

Research output: Contribution to journalArticle

56 Scopus citations

Abstract

Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.

Original languageEnglish (US)
Pages (from-to)711-726
Number of pages16
JournalAmerican Journal of Medical Genetics
Volume20
Issue number4
DOIs
StatePublished - Jun 13 1985

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Williams, M. L., Koch, T. K., O'Donnell, J. J., Frost, P. H., Epstein, L. B., Grizzard, W. S., & Epstein, C. J. (1985). Ichthyosis and neutral lipid storage disease. American Journal of Medical Genetics, 20(4), 711-726. https://doi.org/10.1002/ajmg.1320200417