Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks.
Recently, the molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades (eg, RAS, MAPK, mTOR, PI3K/AKT and GNAQ pathways), which are often responsible of the mosaic distribution of cutaneous and extra-cutaneous features.