Cause of Port Wine Birthmarks Discovered

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Registered: 11-13-2008
Cause of Port Wine Birthmarks Discovered
Fri, 05-10-2013 - 4:12pm

Researchers found that port wine birthmarks are caused by a single genetic mutation: 

The mutation occurs after conception — it is not present in sperm or egg cells — but exactly when it occurs could determine whether a baby develops only a birthmark, or the serious neurological disorder Sturge-Weber syndrome, the researchers say. People with this disorder have port wine birthmarks (reddish to purplish discolorations), typically on the face, and also can suffer seizures, paralysis, blindness and learning disabilities.

Finding the genetic cause of Sturge-Weber syndrome and port wine birthmarks is the first step in developing new treatments for the conditions, the researchers said.

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This discovery verifies that it's not a genetic condition passed from the parents.  Any thoughts on the research?