Cause of Sturge-Weber Syndrome

[William Anton Lee]


Good news. Although the specific use of the label Port Wine Stain in this medical article continues the conversation about its less than definitive use as those of us with Klippel-Trenaunay Syndrome see it used to describe one of our many conditions (Capillary Malformations). As we know K-T Syndrome is caused by a PIK3CA Gene mutation, a different genetic trigger.

http://www.webmd.com/skin-problems-and-treatments/news/20130508/researchers-pinpoint-cause-of-port-wine-stain-birthmarks#1

 

http://www.webmd.com/skin-problems-and-treatments/news/20130508/researchers-pinpoint-cause-of-port-wine-stain-birthmarks#1

 

https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome


Here are a couple of Klippel-Trenaunay Syndrome genetic references:

https://ghr.nlm.nih.gov/gene/PIK3CA


https://www.ncbi.nlm.nih.gov/pubmed/25557259