Study Sets New Guidelines for Evaluating Facial Port-Wine Birthmarks

SEPTEMBER 5, 2014

Study by researchers at Great Ormond Street Hospital for Children in London sets new guidelines for evaluating facial port-wine birthmarks

They studied almost 200 patients with facial port wine birthmarks, and in light of our discovery of the causative somatic mutation, hypothesized that the port-wine birthmarks may have an embryologic vascular distribution rather than the so-called V1 nerve distribution used for many year. Their analysis revealed this to be correct. The facial port-wine birthmarks associated with Sturge-Weber syndrome are on the forehead. This region was defined as spanning from the outer aspect of the eye to the upper part of the ear, covering the entire forehead and including the upper eyelid.

Sturge-Weber port-wine birthmarkSee this picture: the thin black line and pink shading shows the high risk area on the right side. It can involve either or both sides of the forehead in this way.

This paper is an important contribution in a couple of ways. It makes clear that infants with a port-wine birthmark anywhere in this broadened distribution are at greatly increased risk for Sturge-Weber syndrome. I have diagnosed or seen patients, who had what previously might have been considered “atypical” port-wine birthmarks (midline forehead or temple region), with brain involvement. This study makes it clear that these patients are not atypical.

Early diagnosis is crucial to appropriate treatment. It is essential that seizures and glaucoma be aggressively treated. Furthermore, our group first suggested pre-symptomatic treatment with low-dose aspirin (Lance EI, Sreenivasan AK, Zabel TA, Kossoff EH, Comi AM. (2013). Aspirin Use in Sturge-Weber Syndrome: Side Effects and Clinical Outcomes. Journal of Child Neurology, 28(2), 213-218). The London group is now studying this approach as well.

Finally, their study provides further support that it is likely that the underlying somatic mutation in GNAQ occurs in neural crest cells during fetal development. Research efforts here at the Hunter Nelson Sturge-Weber Center continue to identify the cell types involved and to develop new and targeted treatment strategies for Sturge-Weber syndrome.

You can access the summary of the study by clicking on the link below: (You can also find a link to the full text of the study on the summary page.)

Waelchli R, Aylett SE, Robinson K, Chong KW, Martinez AE, Kinsler VA. (2014). New Vascular Classification of Port Wine Stains: Improving Prediction of Sturge-Weber Risk. The British Journal of Dermatology. doi: 10.1111/bjd.13203.

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