Severe gynaecological involvement in Proteus Syndrome

Eur J Med Genet. 2019 Apr;62(4):270-272. doi: 10.1016/j.ejmg.2018.08.003. Epub 2018 Aug 10.

Abstract

Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p.Glu17Lys), presenting with a severe gynaecological involvement which necessitated a complete hysterectomy and a left adnexectomy. Cases of gynecological involvements in Proteus Syndrome are rare, not well known by physicians while they can be potentially severe.

Keywords: AKT1 mutation; Gynaecological involvement; Proteus syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Hysterectomy
  • Mutation, Missense
  • Phenotype*
  • Proteus Syndrome / genetics
  • Proteus Syndrome / pathology*
  • Proteus Syndrome / surgery
  • Proto-Oncogene Proteins c-akt / genetics
  • Uterine Diseases / genetics
  • Uterine Diseases / pathology*
  • Uterine Diseases / surgery

Substances

  • AKT1 protein, human
  • Proto-Oncogene Proteins c-akt