{"title":"伴有软组织肥大和毛状畸形的双侧斯特奇-韦伯综合征。","authors":"Shivangi Singh, Priyanka Kowe, Gitesh U Sawatkar","doi":"10.1136/bcr-2025-265439","DOIUrl":null,"url":null,"abstract":"<p><p>Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare congenital neurocutaneous syndrome characterised by a triad of cutaneous, ocular and central nervous system findings. In the majority of the patients, it manifests as unilateral facial port-wine stain (PWS), which is a capillary malformation frequently affecting the first branch (ophthalmic division) of the trigeminal nerve. The ocular manifestations involve glaucoma and choroidal haemangiomas, whereas intracranial leptomeningeal venous angiomas form part of the central nervous system involvement. There are a few reports of bilateral PWS involving the trigeminal nerve's ophthalmic and maxillary branches. We hereby report a case of bilateral SWS associated with soft tissue hypertrophy of the lip and trichomegaly.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Bilateral Sturge-Weber syndrome with soft tissue hypertrophy and trichomegaly.\",\"authors\":\"Shivangi Singh, Priyanka Kowe, Gitesh U Sawatkar\",\"doi\":\"10.1136/bcr-2025-265439\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare congenital neurocutaneous syndrome characterised by a triad of cutaneous, ocular and central nervous system findings. In the majority of the patients, it manifests as unilateral facial port-wine stain (PWS), which is a capillary malformation frequently affecting the first branch (ophthalmic division) of the trigeminal nerve. The ocular manifestations involve glaucoma and choroidal haemangiomas, whereas intracranial leptomeningeal venous angiomas form part of the central nervous system involvement. There are a few reports of bilateral PWS involving the trigeminal nerve's ophthalmic and maxillary branches. We hereby report a case of bilateral SWS associated with soft tissue hypertrophy of the lip and trichomegaly.</p>\",\"PeriodicalId\":9080,\"journal\":{\"name\":\"BMJ Case Reports\",\"volume\":\"18 5\",\"pages\":\"\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-05-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMJ Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/bcr-2025-265439\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMJ Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/bcr-2025-265439","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Bilateral Sturge-Weber syndrome with soft tissue hypertrophy and trichomegaly.
Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare congenital neurocutaneous syndrome characterised by a triad of cutaneous, ocular and central nervous system findings. In the majority of the patients, it manifests as unilateral facial port-wine stain (PWS), which is a capillary malformation frequently affecting the first branch (ophthalmic division) of the trigeminal nerve. The ocular manifestations involve glaucoma and choroidal haemangiomas, whereas intracranial leptomeningeal venous angiomas form part of the central nervous system involvement. There are a few reports of bilateral PWS involving the trigeminal nerve's ophthalmic and maxillary branches. We hereby report a case of bilateral SWS associated with soft tissue hypertrophy of the lip and trichomegaly.
期刊介绍:
BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.