Ultrasound diagnosis of syndromic cases with vascular malformations and soft tissue overgrowth: A rare case of CLOVES syndrome.

Abstract

Syndromes associated with vascular malformation and soft tissue overgrowth in the paediatric population present with multiple soft tissue swellings. Ultrasound is the initial investigation of choice for paediatric soft tissue swellings. Ultrasound evaluation can accurately assess the nature of vascular malformations and pattern of lipomatous hypertrophy in areas of soft tissue overgrowth to facilitate early diagnosis of such syndromes. Here, we report a case of CLOVES (congenital lipomatous overgrowth (CLO), vascular malformations (V), epidermal nevi (E), and spinal/skeletal anomalies/scoliosis (S)) syndrome in a 6-year-old girl referred for evaluation of soft tissue swellings. CLOVES syndrome is a rare overgrowth syndrome in the paediatric population which presents with multiple soft tissue swellings. The ultrasound and clinical features of the syndrome have been illustrated to help radiologists accurately diagnose this rare syndrome based on detailed ultrasound and clinical evaluation. Radiological features of CLOVES syndrome and differentiating ultrasound features of other such syndromes have been described in detail. A systematic stepwise approach to diagnosing complex syndromic associations of vascular malformations with lipomatous overgrowth has been proposed. Role of ultrasound in the management, Wilms tumour screening and follow-up of CLOVES syndrome have also been discussed. Ultrasound plays a crucial role in the early diagnosis and management of complex syndromes presenting with soft tissue swelling in the paediatric population. It also aids in the differentiation of such syndromes, tumour screening, guided sclerotherapy and follow-up of vascular lesions encountered in such syndromes.