VASCULAR MALFORMATIONS ASSOCIATED WITH RARE SYNDROMES IN CHILDREN
Keywords:
Vascular anomalies, syndromes, treatment, multidisciplinary approachAbstract
The International Society for the Study of Vascular Anomalies (ISSVA) classifies vascular anomalies into two major groups: vascular tumors and vascular malformations. Most vascular tumors are hemangiomas, representing benign vascular proliferations. Vascular malformations, on the other hand, are divided into two major categories. The first includes simple lymphatic, venous, capillary malformations and their combinations, while the second comprises vascular malformations associated with specific syndromes. These conditions are extremely rare and require highly individualized therapeutic approaches. This study presents children with rare syndromes associated with vascular anomalies who were treated at the University Clinic for Pediatric Surgery in the period 2019–2025, including Sturge–Weber syndrome, Proteus syndrome, Coffin–Siris syndrome, FAVA syndrome, and Klippel–Trenaunay syndrome. Advanced imaging techniques were utilized to characterize the extent and hemodynamic characteristics of each lesion. The therapeutic focus was directed primarily on the vascular anomaly. Treatment modalities varied among patients and included surgical intervention, conservative management, sclerotherapy, combined approaches, and expectative management. Results showed satisfactory outcomes regarding the vascular anomaly, with regression of up to 90%. This resulted in reduced expected complications and improved quality of life, supported by measures such as oral analgesic and/or anticoagulant therapy, compression, and skin-protective care. Early intervention can significantly influence long-term outcomes in these patients.
A multidisciplinary approach is essential in managing these children, involving pediatric surgeons, specialized pediatricians, anesthesiologists, radiologists, ophthalmologists, orthopedic surgeons, and other specialists. Such coordinated care improves early diagnostic accuracy and supports optimized therapeutic decision-making. Detailed long-term follow-up improves clinical assessment and supports the development of individualized treatment strategies. The aim of this study is to present rare syndromes associated with vascular malformations, their diagnostic challenges, and treatment specificities. Recommendations emphasize the importance of early recognition of the syndrome, timely referral to specialized centers, and the application of modern minimally invasive techniques whenever appropriate. Additional information highlights that the diagnostic process is complex and, in addition to standard evaluations, often requires advanced diagnostic methods, including genetic testing, due to the clinical variability and rarity of these conditions.
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