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- 1. 遺伝性皮膚症 the genodermatoses
- 2. 毛細血管奇形（ポートワイン母斑）：臨床的特徴、診断、および関連する症候群 capillary malformations port wine stains clinical features diagnosis and associated syndromes
- 3. 結節性硬化症：遺伝学、臨床的特徴、および診断 tuberous sclerosis complex genetics clinical features and diagnosis
- 4. 神経線維腫症I型（NF1）：病因、臨床的特徴、および診断 neurofibromatosis type 1 nf1 pathogenesis clinical features and diagnosis
- 5. スタージウェーバー症候群 sturge weber syndrome
English Journal
- An Intracardiac Mass in a Pregnant Woman Presenting With Ventricular Tachycardia.
- Alimi H1, Samiei N2, Madadi S3, Zare A4, Azizian N3, Chitsazan M5, Mozaffari K6, Yousefnia MA4, Kashfi F5.
- The Annals of thoracic surgery.Ann Thorac Surg.2016 Jun;101(6):2388-90. doi: 10.1016/j.athoracsur.2015.08.087.
- A pregnant patient presented with symptomatic ventricular tachycardia. Echocardiography revealed a large intramyocardial mass. Surgical resection was attempted in conjunction with cryoablation of the surrounding myocardial tissue. Histologic examination of the resected mass revealed cardiac neurofib
- PMID 27211956
- Correspondence on "Neurocutaneous Syndromes and Brain Tumors".
- Toledano H1, Barnes-Kedar I2, Baris HN3.
- Journal of child neurology.J Child Neurol.2016 Jun;31(7):944. doi: 10.1177/0883073815627863.
- PMID 27169900
- Atypical Phacomatosis Pigmentokeratotica as the Expression of a Mosaic RASopathy With the BRAF-Glu586Lys Mutation.
- Ayala D1, Ramón MD2, Martín JM2, Jordá E2.
- Actas dermo-sifiliograficas.Actas Dermosifiliogr.2016 May;107(4):344-346. doi: 10.1016/j.ad.2015.07.017. Epub 2015 Dec 15.
- PMID 26703821
Japanese Journal
- Intramedullary and Retroperitoneal Melanocytic Tumor Associated With Congenital Blue Nevus and Nevus Flammeus
- KUROKAWA Ryo,KIM Phyo,KAWAMOTO Toshiki,MATSUDA Hadzki,HAYASHI Shujiro,YAMAZAKI Soji,HATAMOCHI Atsushi,MORI Shozo,SHIMODA Mitsugi,KUBOTA Keiichi
- Neurologia medico-chirurgica = 神経外科 53(10), 730-734, 2013-10-15
- NAID 10031191647
- 線維柱帯切開術が有効であった色素血管母斑症を伴う発達緑内障の1例
- 岡安 隆,松原 みどり,小林 かおり [他],岡田 守生
- あたらしい眼科 = Journal of the eye 30(7), 1014-1016, 2013-07-30
- NAID 10031189387
- Intramedullary and Retroperitoneal Melanocytic Tumor Associated With Congenital Blue Nevus and Nevus Flammeus: An Uncommon Combination of Neurocutaneous Melanosis and Phacomatosis Pigmentovascularis—Case Report
- KUROKAWA Ryu,KIM Phyo,KAWAMOTO Toshiki,MATSUDA Hadzki,HAYASHI Shujiro,YAMAZAKI Soji,HATAMOCHI Atsushi,MORI Shozo,SHIMODA Mitsugi,KUBOTA Keiichi
- Neurologia medico-chirurgica 53(10), 730-734, 2013
- … Phacomatosis pigmentovascularis (PPV) is an association of vascular nevus with pigmentary nevus. …
- NAID 130003383188
Related Links
- phac·o·ma·to·sis or phak·o·ma·to·sis (f k -m -t s s). n. Any of a group of congenital and hereditary diseases characterized by the development of hamartomas in various tissues and including neurofibromatosis, Lindau's disease, Sturge-Weber ...
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★リンクテーブル★
| リンク元 | 「スタージ・ウェーバー症候群」「母斑症」 |
「スタージ・ウェーバー症候群」
- 英
- Sturge-Weber syndrome
- 同
- (国試)Sturge-Weber症候群、パルケス・ウェーバー・ディミトリ病 Parkes-Weber-Dimitri disease、nevoid amentia、三叉神経脳血管腫症 trigeminal encephaloangiomatosis encephalo-trigeminal angiomatosis
- 関
- (使われない傾向にある)母斑症 phacomatosis、神経皮膚症候群
概念
遺伝形式
- なし
症状
- 皮膚症状：顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1))
- 中枢神経症状：顔面血管腫が存在する側の特に後頭葉に脳軟膜の血管腫が発生 (NDE.349)。乳幼児期からの血管発作。大脳半球萎縮、石灰化、知能障害
- 眼症状：緑内障(牛眼)
治療
- 皮膚症状：レーザー療法
- 中枢神経症状：(痙攣発作)薬物療法、脳切除
- 眼症状：眼圧の調整
参考
http://www.nature.com/eye/journal/v19/n3/fig_tab/6701474f1.html