Gupta Uma, Sarker Prasenjit, Chowdhury Tutul
Internal Medicine, Chittagong Medical College, Chittagong, BGD.
Internal Medicine, One Brooklyn Health System, Brooklyn, USA.
Cureus. 2021 Nov 20;13(11):e19776. doi: 10.7759/cureus.19776. eCollection 2021 Nov.
Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by abnormal development of soft tissues, lymphatic system, and blood vessels. Major features include tissue and bone overgrowth, vein malformation, and port-wine stains with or without lymphatic abnormalities. It is crucial to review this rare syndrome to avoid any diagnostic delay. In addition, it is also vital to follow disease courses with symptomatic treatment for rare complex diseases, which would help clinicians understand and implement a better treatment plan in the future. We present the case of a 19-year-old male eventually diagnosed with KTS who initially presented with swelling of his feet and skin erosion with bloody discharge. Associated findings were bluish skin discoloration, nodularity, and bleeding per rectum, leading to anemia and subsequent heart failure. Colonoscopy/sigmoidoscopy showed vascular malformation and an active bleeding site. Our patient manifested most of the clinical attributes of KTS, with an interesting clinical course of arteriovenous, soft tissue, capillary, lymphatic, and vascular malformations. However, in our case, the patient is receiving only symptomatic treatment (blood transfusion) without any limb amputation or reconstruction surgery, leading to no further deterioration of the quality of life.
克-特综合征(KTS)是一种罕见疾病,其特征为软组织、淋巴系统和血管发育异常。主要特征包括组织和骨骼过度生长、静脉畸形以及葡萄酒色斑,伴或不伴有淋巴系统异常。对这种罕见综合征进行回顾对于避免诊断延误至关重要。此外,对罕见复杂疾病进行对症治疗并跟踪疾病进程也很关键,这将有助于临床医生在未来理解并实施更好的治疗方案。我们报告一例最终诊断为KTS的19岁男性病例,该患者最初表现为足部肿胀和皮肤糜烂伴血性分泌物。相关表现包括皮肤发蓝、结节状以及直肠出血,导致贫血及随后的心力衰竭。结肠镜检查/乙状结肠镜检查显示血管畸形和一个活动性出血部位。我们的患者表现出了KTS的大多数临床特征,有着动静脉、软组织、毛细血管、淋巴和血管畸形的有趣临床病程。然而,在我们的病例中,患者仅接受对症治疗(输血),未进行任何肢体截肢或重建手术,从而未导致生活质量进一步恶化。