Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant

Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006118. doi: 10.1101/mcs.a006118. Print 2021 Dec.

Abstract

Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germline variants in RASA1 and EPHB4 We report two individuals with Parkes Weber syndrome of the leg and primary lymphedema containing a somatic KRAS variant (NM_004985.5:c.35G > A; p.Gly12Asp). KRAS variants, which cause somatic intracranial and extracranial arteriovenous malformations, also result in Parkes Weber syndrome with lymphatic malformations.

Keywords: peripheral arteriovenous fistula; predominantly lower limb lymphedema.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Arteriovenous Fistula*
  • Arteriovenous Malformations*
  • Humans
  • Lymphedema*
  • Proto-Oncogene Proteins p21(ras)
  • Sturge-Weber Syndrome*
  • p120 GTPase Activating Protein

Substances

  • KRAS protein, human
  • RASA1 protein, human
  • p120 GTPase Activating Protein
  • Proto-Oncogene Proteins p21(ras)