{"title":"遗传性出血性毛细血管扩张伴ACVRL1基因变异1例。","authors":"Sawako Ochiai, Reimon Yamaguchi, Kiminobu Takeda, Naoto Oishi, Sumihito Togi, Hiroki Ura, Yo Niida, Akira Shimizu","doi":"10.4081/dr.2026.10582","DOIUrl":null,"url":null,"abstract":"<p><p>Dear Editor, Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disease characterized by multiple localized abnormal connections between an artery and a vein. The majority (>85%) of HHT patients are heterozygous for loss-of-function variants in the ENG (HHT1) or ACVRL1 (HHT2) genes, while a minority (<5%) carry pathogenic variants in the SMAD4 gene and show a combined juvenile polyposis and HHT phenotype (JP/HHT). In addition, a very rare group of patients with an HHT-like phenotype maps to variants in GDF2 (also known as BMP9, HHT5). [...].</p>","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":" ","pages":""},"PeriodicalIF":1.3000,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case of hereditary hemorrhagic telangiectasia with <i>ACVRL1</i> gene variant.\",\"authors\":\"Sawako Ochiai, Reimon Yamaguchi, Kiminobu Takeda, Naoto Oishi, Sumihito Togi, Hiroki Ura, Yo Niida, Akira Shimizu\",\"doi\":\"10.4081/dr.2026.10582\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Dear Editor, Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disease characterized by multiple localized abnormal connections between an artery and a vein. The majority (>85%) of HHT patients are heterozygous for loss-of-function variants in the ENG (HHT1) or ACVRL1 (HHT2) genes, while a minority (<5%) carry pathogenic variants in the SMAD4 gene and show a combined juvenile polyposis and HHT phenotype (JP/HHT). In addition, a very rare group of patients with an HHT-like phenotype maps to variants in GDF2 (also known as BMP9, HHT5). [...].</p>\",\"PeriodicalId\":11049,\"journal\":{\"name\":\"Dermatology Reports\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2026-03-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Dermatology Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4081/dr.2026.10582\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Dermatology Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4081/dr.2026.10582","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"DERMATOLOGY","Score":null,"Total":0}
A case of hereditary hemorrhagic telangiectasia with ACVRL1 gene variant.
Dear Editor, Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disease characterized by multiple localized abnormal connections between an artery and a vein. The majority (>85%) of HHT patients are heterozygous for loss-of-function variants in the ENG (HHT1) or ACVRL1 (HHT2) genes, while a minority (<5%) carry pathogenic variants in the SMAD4 gene and show a combined juvenile polyposis and HHT phenotype (JP/HHT). In addition, a very rare group of patients with an HHT-like phenotype maps to variants in GDF2 (also known as BMP9, HHT5). [...].
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
