Von Hippel-Lindau Disease

Adv Exp Med Biol. 2018:1085:201-203. doi: 10.1007/978-3-319-95046-4_42.


Phakomatoses (phakoma = birthmark) are a group of diseases or syndromes that have hamartomas (tumorous malformations composed of tissues normally present at the location where they develop) of the skin, brain, and eye (oculoneurocutaneous syndromes).

Keywords: Phakomatoses; von Hippel-Lindau disease.

Publication types

  • Review

MeSH terms

  • Brain / pathology
  • Eye / pathology
  • Hamartoma / physiopathology
  • Humans
  • Skin / pathology
  • von Hippel-Lindau Disease / physiopathology*