Vascular Overgrowth

  • Kelly J. DuffyEmail author
  • Michael E. Kelly
  • David Bick
Part of the Molecular and Translational Medicine book series (MOLEMED)


Blood and lymphatic vessel formation is a vital and dynamic process that when dysregulated can lead to excessive or abnormal formation of the vasculature. Vascular malformations can occur in isolation or in association with other clinical phenotypes, such as bony and/or soft tissue hypertrophy (overgrowth) that may occur regionally or involve the entire body. These overgrowth syndromes are often classified based on the type of vascular malformations they are associated with; slow-flow lesions of lymphatic, venous, or capillary origin; or fast-flow lesions such as arteriovenous malformations and arteriovenous fistulas. Most overgrowth syndromes associated with vascular malformations are sporadic and demonstrate mosaic distribution of lesions, suggesting that post-zygotic somatic mutation may be responsible. Though primarily sporadic in nature, a few syndromes demonstrating inheritance patterns have facilitated identification of the responsible molecular defects. Those defects that have been characterized tend to occur within the PI3K/AKT pathway, a pathway that regulates cellular growth and survival. While intriguing to speculate on the potential role of this pathway in the various disease processes within the overgrowth syndrome spectrum, sporadic occurrence, unclear clinical delineation, and small patient populations make molecular characterization an ongoing challenge.


Vascular overgrowth Proteus syndrome Klippel-Trenaunay syndrome (KTS) CMTC MCAP Beckwith-Wiedemann syndrome PHTS CM-AVM PKWS 


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Kelly J. Duffy
    • 1
    Email author
  • Michael E. Kelly
    • 2
  • David Bick
    • 3
  1. 1.Department of RadiologyMedical College of WisconsinMilwaukeeUSA
  2. 2.Pediatrics Department, Division of Pediatric Hematology, Oncology, Bone Marrow TransplantationChildren’s Hospital of WisconsinMilwaukeeUSA
  3. 3.Pediatrics DepartmentMedical College of WisconsinMilwaukeeUSA

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