| H01788 | |
| H番号 | H01788 |
| 名称 | クリッペル・トレノネー・ウェーバー症候群 |
| 概要 | Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas, varicose veins, and bone or soft tissue hypertrophy causing limb asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary embolism (PE), and recurrent bleeding. Most cases arise from sporadic mutations in one or more genes involved in early embryonic angiogenesis. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.60 ICD-10: Q87.2 MeSH: D007715 OMIM: 149000 |
| 文献 | PMID:26615353 著者 Bhat L, Bisht S, Khanijo K タイトル Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. 雑誌 Indian Pediatr 52:987-8 (2015) DOI:10.1007/s13312-015-0760-5 PMID:25293688 著者 Ricks CB, Grandhi R, Ducruet AF タイトル Klippel-Trenaunay syndrome and cavernous malformations. 雑誌 BMJ Case Rep 2014:bcr2014207486 (2014) DOI:10.1136/bcr-2014-207486 PMID:23799311 著者 Oduber CE, van Beers EJ, Bresser P, van der Horst CM, Meijers JC, Gerdes VE タイトル Venous thromboembolism and prothrombotic parameters in Klippel-Trenaunay syndrome. 雑誌 Neth J Med 71:246-52 (2013) |