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Klippel-Trenaunay & Sturge-Weber syndrome: Do these 100-year-old names hold up, now that we know genetic causes?

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.

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