Sturge–Weber Syndrome and Port Wine Stains — Different Manifestations of the Same Mutation

Port-wine stains (PWS) are cutaneous capillary malformations occurring in 3 of 1000 newborns. Sturge–Weber syndrome (SWS) occurs sporadically, affecting from 1 in 20,000 to 1 in 50,000 newborns. SWS is characterized by a facial PWS, venous-capillary leptomeningeal abnormalities, and eye abnormalities (e.g., glaucoma). A baby with a facial PWS has about a 6% chance of having SWS, but if the PWS is in the region of the ophthalmic branch of the trigeminal nerve, the risk increases to 26%. It has been hypothesized that SWS and PWS are caused by the same somatic mutation, with clinical manifestations dependent on where and when during fetal development the mutation occurred.

Investigators performed whole-genome sequencing of DNA from paired sampl…