New study 2020

Description of the natural history of vasculopathies


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


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.


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.

Research is the heart of Share4Rare. By working together we can help to advance the research efforts in rare diseases. This is why we need you. Join the community and participate in research!

Step 1

Join Share4Rare!

A valid email address. All emails from the system will be sent to this address. The email address is not made public and will only be used if you wish to receive a new password or wish to receive certain news or notifications by email.
Several special characters are allowed, including space, period (.), hyphen (-), apostrophe ('), underscore (_), and the @ sign.

Due to EU regulations, this platform is accessible only by users over 18 years old

Disease you are related to
Drag to re-order
Do you belong to any patients' registry?
Please, read carefully the Share4Rare terms of use and privacy policy.