{"title":"一例罕见的安德森-法布里病：病例报告。","authors":"Alpana Mohta, Achala Mohta, Pramila Kumari","doi":"10.2196/49573","DOIUrl":null,"url":null,"abstract":"<p><p>Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease; however, current consensus states that it is also seen in various other lysosomal enzymatic deficiencies. In this report, we present the case of a 12-year-old boy who developed angiokeratoma corporis diffusum with sensorineural deafness, acroparesthesias, and renal involvement.</p>","PeriodicalId":73553,"journal":{"name":"JMIR dermatology","volume":"7 ","pages":"e49573"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10828944/pdf/","citationCount":"0","resultStr":"{\"title\":\"An Unusual Case of Anderson-Fabry Disease: Case Report.\",\"authors\":\"Alpana Mohta, Achala Mohta, Pramila Kumari\",\"doi\":\"10.2196/49573\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease; however, current consensus states that it is also seen in various other lysosomal enzymatic deficiencies. In this report, we present the case of a 12-year-old boy who developed angiokeratoma corporis diffusum with sensorineural deafness, acroparesthesias, and renal involvement.</p>\",\"PeriodicalId\":73553,\"journal\":{\"name\":\"JMIR dermatology\",\"volume\":\"7 \",\"pages\":\"e49573\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10828944/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JMIR dermatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2196/49573\",\"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":"JMIR dermatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2196/49573","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
An Unusual Case of Anderson-Fabry Disease: Case Report.
Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease; however, current consensus states that it is also seen in various other lysosomal enzymatic deficiencies. In this report, we present the case of a 12-year-old boy who developed angiokeratoma corporis diffusum with sensorineural deafness, acroparesthesias, and renal involvement.
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