Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

Br J Dermatol. 2018 Mar;178(3):e219-e221. doi: 10.1111/bjd.16053. Epub 2018 Jan 22.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics*
  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Homozygote
  • Humans
  • Ichthyosis / genetics*
  • Keratosis / genetics*
  • Lipase / genetics*
  • Lipid Metabolism / genetics
  • Male
  • Mutation, Missense / genetics*

Substances

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human
  • Lipase
  • PNPLA1 protein, human