Congenital capillary malformations (CMC), also known as port-wine stains, are common congenital cutaneous capillary malformations. Most CMCs occur sporadically and present as a solitary lesion. CMC may also be associated with other syndromes, especially Sturge-Weber syndrome [DS:H01809]. A somatic GNAQ mutation was recently identified in patients with sporadic CMC and Sturge-Weber syndrome. The GNAQ gene encodes for G alpha q, a G-protein subunit that is involved in intracellular downstream signaling of transmembrane proteins.
