Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation

Br J Dermatol. 2006 Jun;154(6):1194-8. doi: 10.1111/j.1365-2133.2006.07196.x.

Abstract

A 3-year-old boy with Proteus syndrome has a novel germline p.Y68D mutation of the PTEN gene inherited from his mother who has Cowden syndrome. In addition, DNA extracted from curettings of his widespread epidermal naevus shows loss of heterozygosity for this mutation. To our knowledge, this has not been described before.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Germ-Line Mutation
  • Humans
  • Loss of Heterozygosity*
  • Male
  • Nevus, Pigmented / genetics*
  • Nevus, Pigmented / pathology
  • PTEN Phosphohydrolase / genetics*
  • Pedigree
  • Proteus Syndrome / genetics*
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology

Substances

  • PTEN Phosphohydrolase
  • PTEN protein, human