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

  • Shirley M
  • Tang H
  • Gallione C
  • et al.
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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 . . .

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APA

Shirley, M. D., Tang, H., Gallione, C. J., Baugher, J. D., Frelin, L. P., Cohen, B., … Pevsner, J. (2013). Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ. New England Journal of Medicine, 368(21), 1971–1979. https://doi.org/10.1056/nejmoa1213507

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