Delayed Diagnosis of Klippel-Trénaunay Syndrome in a 23-year-old African American Male

Description Klippel-Trénaunay syndrome is a rare genetic disorder that typically presents as a triad of symptoms consisting of venous malformations (varicosities), capillary malformations (port-wine stain), and limb overgrowth. We followed a 23-year-old African American male with a past medical history of peripheral vascular disease, who was visiting the dermatology clinic for a persistent skin lesion on his thigh. During physical examinations, we noted a subtle port-wine stain on his right leg, right leg hypertrophy, and peripheral vascular disease. Skin findings were difficult to observe on his darker skin tone, Fitzpatrick skin type VI, which may have led to the delayed diagnosis of Klippel-Trénaunay syndrome. The lesion of concern was removed during a follow-up visit and was consistent with an angiokeratoma. Our patient had not suffered any serious complications from his new diagnosis of Klippel-Trénaunay syndrome; however, there was a concern for thrombotic events.