Two-year-old girl with tuberous xanthomas

J Clin Pathol. 2018 Oct;71(10):860-862. doi: 10.1136/jclinpath-2017-204818.
No abstract available

Keywords: lipids; plasma viscosity; skin.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily G, Member 8 / genetics
  • Child, Preschool
  • Female
  • Humans
  • Hypercholesterolemia / complications*
  • Hypercholesterolemia / genetics
  • Intestinal Diseases / complications*
  • Intestinal Diseases / genetics
  • Lipid Metabolism, Inborn Errors / complications*
  • Lipid Metabolism, Inborn Errors / genetics
  • Mutation
  • Phytosterols / adverse effects*
  • Phytosterols / genetics
  • Xanthomatosis / genetics
  • Xanthomatosis / pathology*

Substances

  • ABCG8 protein, human
  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • Phytosterols

Supplementary concepts

  • Sitosterolemia