Klippel-Trenaunay syndrome: The importance of "geographic stains" in identifying lymphatic disease and risk of complications

Background: Klippel-Trenaunay syndrome (KTS) is a rare congenital anomaly classically defined as the triad of vascular stain, soft tissue and/or bony hypertrophy, and venous varicosities. Objective. To determine whether the morphologic characteristics of the associated vascular stains in KTS are predictive of the presence of lymphatic involvement and/or complications. Setting. Outpatient dermatology practice, tertiary care medical center. Methods: We retrospectively reviewed all cases of KTS identified between January 1989 and September 2001 at the University of California San Francisco (UCSF) Department of Dermatology. Forty patients were identified. We further classified them by type of cutaneous vascular stain, either "geographic" or "blotchy/ segmental." Patients were further classified as having definite, probable, possible, or no evidence of lymphatic disease. We also reviewed the charts for other possibly associated manifestations and complications of KTS. Results: Of those with sharply demarcated geographic stains (n=22), 21 had definite or probable evidence of lymphatic disease. Of those with blotchy port-wine stains (n=17), 16 had possible or no evidence of lymphatic disease (P<.001). Determination of the type of stain had 95% sensitivity and 94% specificity in differentiating the definite or probable presence of definite or probable lymphatic disease from possible or no evidence of lymphatic disease. Complications occurred in 19 (86%) of 22 patients with a geographic stain vs 7 of 17 (41%) with a blotchy/segmental stain (P<.003). Conclusion. This study demonstrates that the presence of a geographic vascular stain is a predictor of the risk of both associated lymphatic malformation and complications in patients with KTS. Since these stains are present at birth, this clinical observation can help in identifying individuals with KTS at greatest risk for complications and in need of closer observation.