A Case Report of Klippel–Trenaunay Syndrome in a 4-Year-Old Child with Lobular Capillary Hemangiomas in Pakistan

Abstract

Introduction: Klippel–Trenaunay syndrome (KTS) is an extremely rare congenital disorder belonging to the wider group of PIK3CA-related overgrowth spectrum disorders, and it is characterized by vascular malformations. It usually presents with a clinical triad of port-wine stains, soft tissue and bone hypertrophy, and vascular malformations mainly affecting the lower limbs. Its etiology has been linked to sporadic mutations in the PIK3CA gene. This case contributes to the limited body of literature from South Asia and highlights regional presentation and diagnostic challenges due to its rarity. Although port-wine stains are classically described in KTS, the presence of multiple widespread cutaneous hemangiomas has not been widely documented in association with this syndrome. Case presentation: A 4-year-old girl presented with multiple blue-colored, tortuous swellings in the right lower limb, including the ventral lateral aspect of the foot, knee, labia majora, and posterior thigh. The swellings were irregular in shape, compressible, non-tender, and demonstrated minimal flow on color Doppler examination. Sequential progression was noted from foot to buttock. A port-wine stain was observed on the buttocks. Additionally, several hemangiomas were scattered throughout body regions including the axilla, left leg, left arm, and post-auricular area. Some lesions were bleeding and crusted. Developmental milestones were achieved appropriately for age. Conclusion: The diagnosis of KTS was established based on clinical findings and imaging investigations including color Doppler ultrasound, CT angiography, and MRI. Imaging demonstrated venolymphatic malformations with absence of arterial feeders. Conservative management was adopted. The patient remained clinically stable without major complications during follow-up. This case expands the dermatological spectrum of KTS by describing multiple widespread hemangiomas in association with classic KTS features. Imaging plays a pivotal role in differentiating KTS from overlapping vascular syndromes such as Parkes Weber and Sturge–Weber syndrome, especially in resource-limited settings.