Introduction

Sturge–Weber syndrome (encephalofacial angiomatosis) is characterized by a venous malformation involving the skin, brain, and sometimes the eye. Most patients with brain involvement develop epileptic seizures, and many of these individuals are also cognitively impaired. Some patients develop focal neurological deficits such as hemiparesis, hemiatrophy, and visual field defects. Glaucoma is common. The syndrome is sporadic and occurs in all ethnic groups (Bodensteiner & Roach, 1999).

While the obvious cutaneous manifestations of Sturge–Weber syndrome (SWS) have no doubt been recognized for centuries, its clinical delineation did not begin until the nineteenth century (Bodensteiner & Roach, 1999). Schirmer first noted the facial nevus and other parts of the syndrome in 1860. Sturge (1879) linked the facial nevus to neurological impairment in a girl with a port-wine stained lesion of the face and trunk along with contralateral seizures and weakness, and Kalischer confirmed the intracranial pathology of SWS in 1897. Parkes Weber described some of the radiological features of SWS (Weber, 1922), but it was Dimitri a year later who described the classic ‘tram track’ calcification of SWS. The significance of this unusual radiographic appearance was not uncovered for almost 10 years, when Krabbe determined that this finding was from calcium deposition in the cortex beneath the leptomeningeal angiomatosis (Krabbe, 1934).

Clinical manifestations

Cutaneous features

The cutaneous lesion of SWS is a port-wine stain (Fig. 23.1) of the forehead or upper eyelid which is evident from birth.