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Study links facial port-wine stain patterns with Sturge-Weber syndrome risk

Specific upper-facial port-wine stain patterns in infants were associated with an increased risk of Sturge-Weber syndrome, according to recently published study results.

Researchers in France prospectively studied consecutive cases of upper-facial port-wine stains (PWSs) larger than 1 cm² within the ophthalmic division of trigeminal nerve distribution in 66 infants. Cerebral MRI and facial photographs were obtained for all patients. Six distinct patterns of PWS were established: linear, frontotemporal, isolated cheek and canthus, combined linear and cheek, hemifacial and median.

Sturge-Weber syndrome (SWS), defined as an upper-facial PWS with neurologic manifestations and cerebral MRI signs, was present in 11 patients. Suspected SWS without neurologic manifestations was evident in four additional infants. High risk for SWS was seen in hemifacial (OR = 7.70) and median PWS patterns (OR = 17.08).

There was no significant association between non-median linear pattern and SWS, according to the researchers.

Disclosure: The authors have no relevant financial disclosures.