Article
Novel genetic mutations in a sporadic port-wine stain.
JAMA dermatology - 1 Dec 2014
Lian Christine Guo, Sholl Lynette M, Zakka Labib R, O Teresa M, Liu Cynthia, Xu Shuyun, Stanek Ewelina, Garcia Elizabeth, Jia Yonghui, MacConaill Laura E, Murphy George F, Waner Milton, Mihm Martin C
Abstract excerpt
IMPORTANCE Port-wine stains (PWSs) are common congenital cutaneous capillary malformations. A somatic GNAQ mutation was recently identified in patients with sporadic PWSs and Sturge-Weber syndrome. However, subsequent studies to confirm or extend this observation are lacking.OBSERVATIONS We report a long-standing, unilateral facial PWS of a man in his early 70s confirmed by histopathological analysis. Staged...
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