Unique Case of Congenital Lipomatous Overgrowth With Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Anomalies Syndrome in a Pediatric Patient

Vascular malformations are being increasingly identified with associated syndromes caused by sporadically occurring, non-heritable somatic mutations. CLOVES syndrome is a newly recognized constellation of congenital lipomatous overgrowth with vascular malformations, epidermal nevi, and skeletal/spinal anomalies. We report the unique case of CLOVES syndrome diagnosed in a pediatric patient five years after the initial surgical resection of an extensive venolymphatic malformation involving the chest, neck, axilla, and posterior trunk. The lipomatous overgrowths were successfully resected, and subsequent genetic analysis revealed a heterozygous, pathogenic, somatic variant in the PIK3CA gene, confirming our suspicion of CLOVES syndrome.