Quinn Kirby E, Infante Juan, Thorson Willa, Thorson Chad M
Dewitt-Daughtry Family Department of Surgery, Division of Pediatric Surgery, University of Miami Miller School of Medicine, Miami, USA.
Department of Radiology, University of Miami Miller School of Medicine, Miami, USA.
Cureus. 2020 Sep 30;12(9):e10737. doi: 10.7759/cureus.10737.
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.
血管畸形越来越多地被发现与由散发的、非遗传性体细胞突变引起的相关综合征有关。CLOVES综合征是一种新认识的先天性脂肪瘤过度生长伴血管畸形、表皮痣和骨骼/脊柱异常的综合征。我们报告了一例独特的CLOVES综合征病例，该病例是在一名儿科患者首次手术切除累及胸部、颈部、腋窝和后躯干的广泛静脉淋巴管畸形五年后被诊断出来的。脂肪瘤过度生长被成功切除，随后的基因分析显示PIK3CA基因存在杂合性、致病性体细胞变异，证实了我们对CLOVES综合征的怀疑。
