Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

Abstract

A port-wine stain is a cutaneous capillary malformation (Figure 1A, 1B, and 1C) that occurs in approximately 3 of every 1000 newborns1,2 and usually involves the head and neck.3 The Sturge–Weber syndrome, also known as encephalofacial angiomatosis, is a neurocutaneous disorder that occurs as a sporadic congenital condition; it is characterized by a port-wine stain that affects the skin in the distribution of the ophthalmic branch of the trigeminal nerve (Figure 1A and 1B) and is associated with venous-capillary abnormalities of the leptomeninges (Figure 1D, 1E, and 1F) and the eye. It occurs in both male and female newborns, in approximately 1 in 20,000 . . .