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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the skin
Developmental anomalies of cutaneous vasculature
LC50 Developmental capillary vascular malformations of the skin
H02946 Congenital capillary malformations
