Overgrowth syndromes with vascular malformations

Semin Cutan Med Surg. 2016 Sep;35(3):161-9. doi: 10.12788/j.sder.2016.049.

Abstract

This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases.

Keywords: Beckwith-Wiedemann Syndrome; Klippel-Trenaunay Syndrome; PIK3CA; RASA1; hemihypertrophy; overgrowth; vascular anomaly; vascular malformation.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / therapy*
  • Beckwith-Wiedemann Syndrome / diagnosis
  • Beckwith-Wiedemann Syndrome / therapy
  • Class I Phosphatidylinositol 3-Kinases
  • Humans
  • Mutation
  • Neoplasms, Vascular Tissue / diagnosis
  • Neoplasms, Vascular Tissue / therapy
  • Phosphatidylinositol 3-Kinases / genetics
  • Proteus Syndrome / diagnosis
  • Proteus Syndrome / therapy
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / therapy
  • Syndrome
  • Vascular Diseases / diagnosis*
  • Vascular Diseases / therapy*
  • Vascular Malformations / diagnosis*
  • Vascular Malformations / therapy*

Substances

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