A port-wine stain may be isolated or may occur as part of a syndrome. The most common syndromes associated with such capillary malformations are as follows:
- Sturge-Weber syndrome (encephalotrigeminal angiomatosis) – There are cerebral and meningeal lesions in addition to a cutaneous lesion on the forehead. Patients may have seizures, glaucoma, intellectual disability, hemiplegia, or subdural hemorrhages.
- Klippel-Trenaunay syndrome (angio-osteohypertrophy) consists of a triad of vascular stain, hemihypertrophy, and venous varicosities. In the past, the vascular stain has been thought to be a pure capillary malformation; however, it is now recognized that it is more commonly a combined capillary, lymphatic, and/or venous malformation. Some specialists prefer to characterize this syndrome with a description of the specific malformations found in each patient.
- Phakomatosis pigmentovascularis is characterized by the coexistence of a capillary malformation and a cutaneous pigmented lesion. Both are typically present at birth.