M. Cordisco, Jinia El-Feghaly, J. Prezzano, Agustina Lanöel, Natalia Torres, Susana Persico, F. Requejo, S. Sierre, M. Fiandrino, Laura Luna, Maria Fernanda Maccario, P. Brouillard, M. Vikkula
{"title":"Capillary Malformation-Arteriovenous Malformation Type 2, A Report of 6 Cases and Main Differential Diagnosis","authors":"M. Cordisco, Jinia El-Feghaly, J. Prezzano, Agustina Lanöel, Natalia Torres, Susana Persico, F. Requejo, S. Sierre, M. Fiandrino, Laura Luna, Maria Fernanda Maccario, P. Brouillard, M. Vikkula","doi":"10.1097/jova.0000000000000053","DOIUrl":null,"url":null,"abstract":"See Related Tests Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a disorder of the vascular system characterized by enlarged capillaries that appear as small, round dots on the skin. Some affected individuals also have fastow vascular anomalies, including arteriovenous malformations (AVMs) or arteriovenous stulas (AVFs) in the skin, muscle, bone, spine, or brain. These lesions may cause life-threatening complications such as bleeding, congestive heart failure, or neurological consequences. Additional manifestations include lymphatic abnormalities, recurrent epistaxis (CM-AVM2), dermal telangiectasias (CM-AVM2), and bier spots (CM-AVM2). Genetic testing can con rm diagnosis of RASA1 -related CM-AVM disorder (CM-AVM1) or EPHB4 -related CM-AVM disorder (CM-AVM2) in individuals with clinical ndings suggestive of CM-AVM.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of vascular anomalies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/jova.0000000000000053","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
See Related Tests Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a disorder of the vascular system characterized by enlarged capillaries that appear as small, round dots on the skin. Some affected individuals also have fastow vascular anomalies, including arteriovenous malformations (AVMs) or arteriovenous stulas (AVFs) in the skin, muscle, bone, spine, or brain. These lesions may cause life-threatening complications such as bleeding, congestive heart failure, or neurological consequences. Additional manifestations include lymphatic abnormalities, recurrent epistaxis (CM-AVM2), dermal telangiectasias (CM-AVM2), and bier spots (CM-AVM2). Genetic testing can con rm diagnosis of RASA1 -related CM-AVM disorder (CM-AVM1) or EPHB4 -related CM-AVM disorder (CM-AVM2) in individuals with clinical ndings suggestive of CM-AVM.
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