New vascular classification of port-wine stains: improving prediction of Sturge–Weber risk

SUMMARY: BACKGROUND: Facial port-wine stains (PWSs) are usually isolated findings; however, when associated with cerebral and ocular vascular malformations they form part of the classical triad of Sturge–Weber syndrome (SWS). OBJECTIVES: To evaluate the associations between the phenotype of facial PWS and the diagnosis of SWS in a cohort with a high rate of SWS. METHODS: Records were reviewed of all 192 children with a facial PWS seen in 2011–13. Adverse outcome measures were clinical (seizures, abnormal neurodevelopment, glaucoma) and radiological [abnormal magnetic resonance imaging (MRI)], modelled by multivariate logistic regression. RESULTS: The best predictor of adverse outcomes was a PWS involving any part of the forehead, delineated at its inferior border by a line joining the outer canthus of the eye to the top of the ear, and including the upper eyelid. This involves all three divisions of the trigeminal nerve, but corresponds well to the embryonic vascular development of the face. Bilateral distribution was not an independently significant phenotypic feature. Abnormal MRI was a better predictor of all clinical adverse outcome measures than PWS distribution; however, for practical reasons guidelines based on clinical phenotype are proposed. CONCLUSIONS: Facial PWS distribution appears to follow the embryonic vasculature of the face, rather than the trigeminal nerve. We propose that children with a PWS on any part of the ‘forehead’ should have an urgent ophthalmology review and a brain MRI. A prospective study has been established to test the validity of these guidelines. WHAT’S ALREADY KNOWN ABOUT THIS TOPIC? Facial port-wine stains (PWSs) are common, but are rarely associated with Sturge–Weber syndrome (SWS). Early diagnosis of SWS is important to reduce ophthalmological and neural complications. Bilateral and ophthalmic division trigeminal nerve PWSs are thought to confer higher risk of SWS. WHAT DOES THIS STUDY ADD? The strongest predictor of SWS was found using a new classification of PWS based on the vascular embryological distribution and not the neural innervation of the face. We propose new guidelines for investigation of children with facial PWS based on this new classification of phenotype.