{"title":"结节性硬化症合并Piebaldism的孤立性肾多灶上皮样血管平滑肌脂肪瘤导致肾功能障碍1例","authors":"Rohit Sanjay Deshpande, Uttam Kumar Mete","doi":"10.14260/jemds.v12i8.470","DOIUrl":null,"url":null,"abstract":"A 19-year-old gentleman presented to the outpatient department with chief complaint of a right loin mass which had been increasing in size since the past 1 year and had been insidious in onset, causing right loin pain, discomfort, early satiety, along with loss of weight and loss of appetite. Patient was a known case of tuberous sclerosis complex with piebaldism since childhood and had related clinical features like Ash-leaf macules on the trunk, retinal hamartomas along with a recurrent intra-oral disfiguring hamartoma (histopathologically proven acanthosis with hyperkeratosis).","PeriodicalId":47072,"journal":{"name":"Journal of Evolution of Medical and Dental Sciences-JEMDS","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Isolated Renal Multifocal Epithelioid Angiomyolipoma Leading to Non-Functioning Kidney in a Case of Tuberous Sclerosis Complex with Piebaldism\",\"authors\":\"Rohit Sanjay Deshpande, Uttam Kumar Mete\",\"doi\":\"10.14260/jemds.v12i8.470\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A 19-year-old gentleman presented to the outpatient department with chief complaint of a right loin mass which had been increasing in size since the past 1 year and had been insidious in onset, causing right loin pain, discomfort, early satiety, along with loss of weight and loss of appetite. Patient was a known case of tuberous sclerosis complex with piebaldism since childhood and had related clinical features like Ash-leaf macules on the trunk, retinal hamartomas along with a recurrent intra-oral disfiguring hamartoma (histopathologically proven acanthosis with hyperkeratosis).\",\"PeriodicalId\":47072,\"journal\":{\"name\":\"Journal of Evolution of Medical and Dental Sciences-JEMDS\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-08-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Evolution of Medical and Dental Sciences-JEMDS\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14260/jemds.v12i8.470\",\"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 Evolution of Medical and Dental Sciences-JEMDS","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14260/jemds.v12i8.470","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Isolated Renal Multifocal Epithelioid Angiomyolipoma Leading to Non-Functioning Kidney in a Case of Tuberous Sclerosis Complex with Piebaldism
A 19-year-old gentleman presented to the outpatient department with chief complaint of a right loin mass which had been increasing in size since the past 1 year and had been insidious in onset, causing right loin pain, discomfort, early satiety, along with loss of weight and loss of appetite. Patient was a known case of tuberous sclerosis complex with piebaldism since childhood and had related clinical features like Ash-leaf macules on the trunk, retinal hamartomas along with a recurrent intra-oral disfiguring hamartoma (histopathologically proven acanthosis with hyperkeratosis).