Nguyen Daniel A, Patel Pranav, Weis Stephen E
University of North Texas Health Science Center, Fort Worth, TX.
Medical City Fort Worth, Fort Worth, TX.
HCA Healthc J Med. 2022 Jun 28;3(3):175-178. doi: 10.36518/2689-0216.1420. eCollection 2022.
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.
描述
克-特综合征是一种罕见的遗传性疾病，通常表现为三联征症状，包括静脉畸形（静脉曲张）、毛细血管畸形（葡萄酒色斑）和肢体过度生长。我们跟踪了一名23岁的非裔美国男性，他有外周血管疾病病史，因大腿部持续存在的皮肤病变前来皮肤科诊所就诊。体格检查时，我们注意到他右腿有轻微的葡萄酒色斑、右腿肥大以及外周血管疾病。在他 Fitzpatrick VI型深肤色上，皮肤表现很难观察到，这可能导致了克-特综合征的诊断延迟。在后续就诊时切除了可疑病变，结果与血管角皮瘤一致。我们的患者新诊断为克-特综合征后尚未出现任何严重并发症；然而，存在血栓形成事件的担忧。
