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- 1. 心疾患関連する遺伝性症候群 inherited syndromes associated with cardiac disease
English Journal
- Clinical and molecular analysis of RASopathies in a group of Turkish patients.
- Simşek-Kiper P, Alanay Y, Gülhan B, Lissewski C, Türkyılmaz D, Alehan D, Cetin M, Utine G, Zenker M, Boduroğlu K.SourcePediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Acibadem University, Istanbul, Turkey Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany Audiology Unit, Department of Ear-Nose-Throat, Faculty of Medicine, Hacettepe University, Ankara, Turkey Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey Pediatric Hematology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
- Clinical genetics.Clin Genet.2013 Feb;83(2):181-186. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9.
- Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyılmaz D, Alehan D, Çetin M, Utine GE, Zenker M, Boduroğlu K. Clinical and molecular analysis of patients with RASopathies in Turkish patients. The 'RASopathies' are a group of disorders sharing many clinical features and a common pathoph
- PMID 22420426
- Delayed primary diagnosis of LEOPARD syndrome type 1.
- Staub J, Behnecke A, Leverkus M.SourceDepartment of Dermatology, University Medical Center Mannheim, University of Heidelberg, Mannheim, Germany. Electronic address: janina.staub@umm.de.
- Journal of the American Academy of Dermatology.J Am Acad Dermatol.2013 Feb;68(2):e58-60. doi: 10.1016/j.jaad.2012.08.037.
- PMID 23317994
Japanese Journal
- lentiginosis profusa syndrome(LEOPARD syndrome)〔邦文〕 (症候群1982--概念の変遷とその今日的意義--皮膚・粘膜)
- 日本臨床 40(春季増刊), p1198-1199, 1982-03
- NAID 40003058602
- 汎発性黒子症候群Lentiginosis profusa syndromeと心臓--LEOPARD症候群,肥大閉塞性心筋症(循環器1病1例-49-)
- 日本臨床 35(4), p1724-1737, 1977-04
- NAID 40003053563
- 症例 心筋症を合併した汎発性黒子症候群の1例
- 心臓 7(5), 592-599, 1975
- NAID 130004137035
Related Links
- lentiginosis profusa characterized by black pigmented, slightly raised macules, called lentigines, mostly along the back, but generalized; occurs in young dogs ... Disclaimer All content on this website, including dictionary ...
- Lentiginosis profusa is a dermatological abnormality of dogs characterized by excess numbers of superficial lentigines (singular: lentigo). A predisposition has been reported in the Pug. Macroscopically the lentigines appear as small ...
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★リンクテーブル★
| リンク元 | 「神経皮膚症候群」 |
| 関連記事 | 「lentiginosis」 |
「神経皮膚症候群」
- 外胚葉異常により皮膚母斑や神経腫瘍を生じる先天性疾患
- 神経線維腫症1型, neurofibromatosis type 1, NF1, フォン・レックリングハウゼン病 von Recklinghausen disease：NF1の変異による常染色体優性遺伝疾患で多発性のカフェオレ斑、神経線維腫が特徴的。皮膚症状(カフェオレ斑、神経線維腫、黄色腫、貧血母斑、母斑性黄色内皮腫)、眼症状(リッシュ結節)
- 神経線維腫症2型, neurofibromatosis type 2, NF2
- 結節性硬化症, tuberous sclerosis
- ポイツ・イェーガー症候群, Peutz-Jeghers syndrome：顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1))、眼の脈絡膜血管腫、脳軟膜の血管腫 → 中枢神経症状(乳幼児期からの痙攣発作、大脳半球萎縮、石灰化、知能障害)、眼症状(脈絡膜の血管腫による眼圧亢進、緑内障 → 牛眼 )
- 色素失調症, incontinentia pigmenti, ブロッホ・ザルツバーガー症候群, Bloch-Sulzberger syndrome
- スタージ・ウェーバー症候群, Sturge-Weber syndrome：遺伝性無し。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)
- クリッペル・トレノーニイ・ウェーバー症候群, Klippel-Trenaunay-Weber syndrome
- 神経皮膚黒色症, neurocutaneous smelanosis
- 汎発性黒子症候群, lentiginosis profusa, LEOPARD症候群
- 基底細胞母斑症候群, basal cell nevus syndrome
- フォン・ヒッペル・リンドウ病, von Hippel-Lindau disease：常染色体優性遺伝。
- 色素血管母斑症, phacomatosis pigmentovascularis, オスラー病, Osler disease
- 遺伝性出血性毛細血管拡張症, hereditary hemorrhagic telangiectasia
- 青色ゴムマリ様母斑症候群, blue rubber-bleb nevus syndrome
- マフッチ症候群, Maffucci's syndrome
- Zinsser-Cole-Engman症候群, Zinsser-Cole-Engman syndrome
- 先天性角化異常症, dyskeratosis congenita
- 表皮母斑症候群, epidermal nervus syndrome
- 先天性血管拡張性大理石様皮斑, cutis marmorata telangiectatica congenita