Keratitis, ichthyosis, and deafness syndrome with glycogen storage

Arch Dermatol. 1985 Jun;121(6):799-801.

Abstract

Electron microscopy performed in a young girl suffering from keratitis, ichthyosis, and deafness syndrome showed pathologic storage of glycogen in various types of tissues. This finding may be interpreted as evidence of an underlying inborn error of metabolism.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cytoplasm / metabolism
  • Deafness / complications*
  • Female
  • Glycogen / metabolism*
  • Humans
  • Ichthyosis / complications*
  • Keratitis / complications*
  • Mitochondria / metabolism
  • Skin / metabolism
  • Skin / ultrastructure
  • Staining and Labeling
  • Syndrome

Substances

  • Glycogen