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":"毛细血管畸形-动静脉畸形2型6例分析及主要鉴别诊断","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":"33 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"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\":\"33 1\",\"pages\":\"\"},\"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}","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}
Capillary Malformation-Arteriovenous Malformation Type 2, A Report of 6 Cases and Main Differential Diagnosis
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.