New study 2020

Description of the natural history of vasculopathies

Motivation

Vascular malformations or anomalies are alterations in the development of the vascular system that are usually part of a larger pathological entity known as a syndrome. Tissues such as skin and bone have a predisposition to excessive growth, generating injuries and tumours that are usually very evident. This extensive growth has a great impact on the quality of life of the affected people and their families.

The diseases included in this study are the following:

  • Capillary malformations
    • Sturge-Weber syndrome
    • Pigmentovascular phakomatosis
  • Venous malformations
  • Lymphatic malformations
  • Arteriovenous Malformations (AVMs):
    • Cobb syndrome
    • Parkes-Weber syndrome
    • Capillary malformation syndrome (CM-AVM)
  • PI3K-associated overgrowth syndromes:
    • Macrocephaly / megalencephaly capillary malformation syndrome
    • CLOVES syndrome
    • Proteus syndrome
    • Capillary malformation with overgrowth
    • PROS

Objectives

Data on quality of life in this group of patients is really scarce. For this reason, we are promoting this project with the aim of advancing research and knowledge on these pathologies.

Method

The information provided by these patients or their caregivers will allow us to analyse and evaluate the psychosocial impact and the impact on the quality of life of these diseases in pediatric patients. Four validated scales will be used as an instrument to report on pediatric dermatology, effects on mobility, pain intensity and impact of environmental attitudes.

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