Hereditary Port-wine Stains, Do They Exist?

Abstract

. Patients with a port-wine stain applying for laser treatment often mentioned having a member in the family with a similar birthmark. Of 280 consecutive new patients with a port-wine stain 55 mentioned relatives with the same anomaly. Family tendency (19.6%) for vascular malformations in our group was significantly higher than mentioned by others. Pedigrees were made of 32 families with two or more affected members, including probands. We present nine representative pedigrees of families with three or more members affected by port-wine stains. In these families no clear mode of inheritance can be discerned. Genetic linkage studies identified causative gene defects in certain venous malformations and Rendu–Osler–Weber disease. Knowledge of new theories on angiogenesis and molecular genetics has to be linked to our patients with familial port-wine stains.