If a port-wine stain is present around the eye (the area of the first branch of the trigeminal nerve) additional research should be done to look at the possibility of Sturge-Weber Syndrome.
This syndrome may be present in the brain or vascular malformations in the eye. Glaucoma (increased eye pressure) can also occur. The ophthalmologist and neurologist should therefore watch patients closely. It is a rare syndrome (it occurs in 1 in 200,000 births) and the cause is unknown. There is a possible mutation place in a ‘precursor’ cell of a given region; therefore one finds multiple abnormalities. These patients often get epilepsy. There is no cure and you treat the problems that occur with the patient.
Vascular anomaly syndromes with eponyms such as Sturge-Weber syndrome and Klippel-Trenaunay syndrome, were described approximately 100 years ago. At that time, diagnoses were
primarily based on clinical observations, as imaging studies were limited and knowledge of genetics was not as advanced as it is today. Relying solely on clinical examination made achieving an accurate diagnosis challenging then and continues to pose difficulties today.
Currently, many vascular anomaly syndromes can be characterized genetically, with genetics as the most important clue to come to a diagnosis. Despite this advancement, eponyms continue to be used. Increasingly, these eponyms are associated with genetic diagnoses, offering a new perspective on the naming and genetic classification of disorders. This evolution brings the possibility of targeted therapeutic options, suggesting that completely ‘saying goodbye’ to well-known and frequently used eponyms might not be desirable yet.
(The FAQ’s booklet is produced by the Vascular Birthmarks Foundation USA).
