Klippel Trenaunay syndrome in the context of work-related injury: Case report and review of the literature

BACKGROUND: Uncommon diseases are usually not suspected at initial presentation, and the diagnosis might be challenging. Here we present a rare disease diagnosed in a work-related injury setting, highlighting the importance of further investigation by means of a more detail physical exam, imaging studies and involvement of other specialties. CASE PRESENTATION: A 21-year-old Hispanic male, who is a food service worker, presented following a work-related right elbow contusion with severe pain to his right elbow associated with swelling and purplish-red bruising/discoloration on its medial side and forearm. Physical exam demonstrated swelling, tenderness, and conspicuous dilated blood vessels across the right arm and forearm; additionally, multiple red-purplish scattered patches were found on the right arm, anterior and posterior right upper chest. His past medical history was significant for Capillary Hemangioma. He was initially treated conservatively and with work restriction; however, the pain in the forearm persisted. CT angiogram showed multiple interweaving vascular structures on the forearm, and further imaging by MR angiography depicted multiple vascular malformations in the right upper extremity and chest. Vascular surgery was consulted, and the diagnosis of Klippel-Trenaunay syndrome was made. CONCLUSIONS: Klippel-Trenaunay syndrome is a rare congenital disorder that could present in a wide-range of signs and symptoms. Thorough history taking and clinical examination is warranted in any work-related injuries. Further work up and referral to specialist should always be considered when diagnosis is unclear, or when initial symptoms do not resolve with treatment.