Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.

摘要: Overgrowth syndromes with complex vascular anomalies pose a challenge for diagnosis and management. The purpose of this descriptive study is to present cohort patients congenital lipomatous overgrowth, malformations, epidermal nevi syndrome, distinct clinical phenotype characterized by truncal-lipomatous mass, vascular, acral, other anomalies. This was ascertained following review patient data entered into the Vascular Anomalies Center database Children's Hospital, Boston over period 7 years. Clinical data, imaging findings, photographic archive were reviewed. search identified 18 unrelated phenotype. Variable portions truncal masses observed in these composed lymphatic malformation. Capillary malformations high-flow lesions commonly encountered. mass infiltrated adjacent anatomic spaces associated capillary, lymphatic, venous, arteriovenous malformations. Paraspinal-intraspinal extension morbid sequelae. Acral deformities included large, wide feet hands, macrodactyly, sandal gap. Scoliosis musculoskeletal, neurologic, renal, cutaneous also uniform highly characteristic features combination anomalies, provide evidence nosologic entity. Morbid sequelae involvement condition can be deforming disabling; hence, prompt multidisciplinary care are necessary.