M. Velayos, K. Estefanía-Fernández, A. Muñoz-Serrano, C. Delgado-Miguel, M. C. S. Sarmiento Caldas, L. Moratilla, M. B. Beato Merino, P. Triana, J. López-Gutiérrez
{"title":"弥漫性肝皮肤血管瘤病:一种不寻常的表现。","authors":"M. Velayos, K. Estefanía-Fernández, A. Muñoz-Serrano, C. Delgado-Miguel, M. C. S. Sarmiento Caldas, L. Moratilla, M. B. Beato Merino, P. Triana, J. López-Gutiérrez","doi":"10.54847/cp.2022.02.20","DOIUrl":null,"url":null,"abstract":"INTRODUCTION\nInfantile hemangiomas with multi-organ involvement are rare, and presentation in the form of uncontrollable bleeding is exceptional.\n\n\nCLINICAL CASE\n4-day-old newborn with multiple hepatocutaneous hemangiomas and a purplish vascular lesion in the third finger of the right hand. In the third week of life, the lesion became ulcerated and caused uncontrollable bleeding. Therefore, urgent amputation was required, with a histopathological result of GLUT-1 positive infantile hemangioma, and an architecture compatible with arteriovenous malformation in the deep portion. Imaging tests revealed it was a high-flow lesion. Genetic tests (MAP2KI, RASA 1, EPHB4, GNAQ, and GNA 11) were negative. Patient progression was good, with hepatocutaneous lesions receding and eventually disappearing.\n\n\nDISCUSSION\nNo explanation has been given yet as to why the same vascular lesion may behave differently in different patients. New mutations may be accountable for this.","PeriodicalId":10316,"journal":{"name":"Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica","volume":"25 1","pages":"99-101"},"PeriodicalIF":0.0000,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Diffuse hepatocutaneous hemangiomatosis: an unusual presentation.\",\"authors\":\"M. Velayos, K. Estefanía-Fernández, A. Muñoz-Serrano, C. Delgado-Miguel, M. C. S. Sarmiento Caldas, L. Moratilla, M. B. Beato Merino, P. Triana, J. López-Gutiérrez\",\"doi\":\"10.54847/cp.2022.02.20\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"INTRODUCTION\\nInfantile hemangiomas with multi-organ involvement are rare, and presentation in the form of uncontrollable bleeding is exceptional.\\n\\n\\nCLINICAL CASE\\n4-day-old newborn with multiple hepatocutaneous hemangiomas and a purplish vascular lesion in the third finger of the right hand. In the third week of life, the lesion became ulcerated and caused uncontrollable bleeding. Therefore, urgent amputation was required, with a histopathological result of GLUT-1 positive infantile hemangioma, and an architecture compatible with arteriovenous malformation in the deep portion. Imaging tests revealed it was a high-flow lesion. Genetic tests (MAP2KI, RASA 1, EPHB4, GNAQ, and GNA 11) were negative. Patient progression was good, with hepatocutaneous lesions receding and eventually disappearing.\\n\\n\\nDISCUSSION\\nNo explanation has been given yet as to why the same vascular lesion may behave differently in different patients. New mutations may be accountable for this.\",\"PeriodicalId\":10316,\"journal\":{\"name\":\"Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica\",\"volume\":\"25 1\",\"pages\":\"99-101\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.54847/cp.2022.02.20\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.54847/cp.2022.02.20","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Diffuse hepatocutaneous hemangiomatosis: an unusual presentation.
INTRODUCTION
Infantile hemangiomas with multi-organ involvement are rare, and presentation in the form of uncontrollable bleeding is exceptional.
CLINICAL CASE
4-day-old newborn with multiple hepatocutaneous hemangiomas and a purplish vascular lesion in the third finger of the right hand. In the third week of life, the lesion became ulcerated and caused uncontrollable bleeding. Therefore, urgent amputation was required, with a histopathological result of GLUT-1 positive infantile hemangioma, and an architecture compatible with arteriovenous malformation in the deep portion. Imaging tests revealed it was a high-flow lesion. Genetic tests (MAP2KI, RASA 1, EPHB4, GNAQ, and GNA 11) were negative. Patient progression was good, with hepatocutaneous lesions receding and eventually disappearing.
DISCUSSION
No explanation has been given yet as to why the same vascular lesion may behave differently in different patients. New mutations may be accountable for this.