A PIK3CA mutation in an acquired capillary malformation

Pediatr Dermatol. 2020 Jan;37(1):246-247. doi: 10.1111/pde.14068. Epub 2019 Dec 12.

Abstract

Acquired capillary malformations are rare vascular anomalies composed of dilated capillaries in the skin. We present a pediatric case of an acquired capillary malformation as a novel presentation of the PIK3CA-related overgrowth syndromes. Using next-generation sequencing, we identified a PIK3CA p.Val344Met mutation within the acquired capillary malformation with possible prognostic and therapeutic significance.

Keywords: genetic diseases; mechanisms; vascular malformation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biopsy
  • Capillaries / abnormalities*
  • Capillaries / pathology
  • Class I Phosphatidylinositol 3-Kinases / genetics*
  • Female
  • Humans
  • Mutation
  • Skin / blood supply*
  • Skin / pathology
  • Vascular Malformations / genetics*
  • Vascular Malformations / pathology

Substances

  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human