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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/01/10 17:59:41」(JST)

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Phakomatoses (or "neurocutaneous syndromes") are disorders of central nervous system that additionally result in lesions on the skin and the eye.^[1]

These tissues have a common ectodermal origin. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.^[2]

The term, from the Greek φακός, phakos, "spot, lens" and the suffix -osis, was introduced by Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood.^[3]

Examples of phakomatoses

Phakomatoses are inconsistently defined, and there is not a consensus about what conditions are included in this category. ^[4]

Conditions included are:

Neurofibromatosis
Tuberous sclerosis
Ataxia telangiectasia
Sturge-Weber syndrome
von Hippel-Lindau disease
Incontinentia pigmenti
Nevoid basal cell carcinoma syndrome
Wyburn-Mason Syndrome

References

^ Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–. ISBN 978-0-632-06429-8. http://books.google.com/books?id=t2tERO4tAg8C&pg=SA5-PA69. Retrieved 27 October 2010.
^ vi_1/p/PHAKOMATOSIS article at GE's Medcyclopaedia
^ Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. http://www.whonamedit.com/doctor.cfm/792.html. Retrieved 2007-07-13.
^ Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. http://books.google.com/books?id=u43MTFr7-m8C&pg=PA937. Retrieved 27 October 2010.

^ Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–. ISBN 978-0-632-06429-8. http://books.google.com/books?id=t2tERO4tAg8C&pg=SA5-PA69. Retrieved 27 October 2010. ^ vi_1/p/PHAKOMATOSIS article at GE's Medcyclopaedia ^ Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. http://www.whonamedit.com/doctor.cfm/792.html. Retrieved 2007-07-13. ^ Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. http://books.google.com/books?id=u43MTFr7-m8C&pg=PA937. Retrieved 27 October 2010. ^ Sandra Bellezza, MD: Neurological Manifestations of Phakomatos

External links

1147863071 at GPnotebook
KidsHealth
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UpToDate Contents

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1. 遺伝性皮膚症 the genodermatoses
2. 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
3. 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
4. 点頭てんかんの病因および発症機序 etiology and pathogenesis of infantile spasms
5. シェーグレン・ラルソン症候群 sjogren larsson syndrome

English Journal

Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma.

Sarnat HB1, Flores-Sarnat L2.
Brain & development.Brain Dev.2015 Jun;37(6):553-562. doi: 10.1016/j.braindev.2014.08.010. Epub 2014 Oct 19.
Tau is a normal microtubule-associated protein; mutations to phosphorylated or acetylated forms are neurotoxic. In many dementias of adult life tauopathies cause neuronal degeneration. Four developmental disorders of the fetal and infant brain are presented, each of which exhibits up-regulation of t
PMID 25451314

Angiomatous meningioma in Sturge-Weber syndrome.

Ahmed Z1, Prayson RA2.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia.J Clin Neurosci.2015 Jun;22(6):1066-8. doi: 10.1016/j.jocn.2015.01.006. Epub 2015 Mar 9.
We report a case of an intraventricular angiomatous meningioma arising in a 3-year-old boy diagnosed with Sturge-Weber syndrome (SWS) who presented with intractable epilepsy and right-sided hemiparesis. He underwent surgical resection of the epileptogenic focus. Histologic sections showed the typica
PMID 25766367

Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies MRI as the best predictor of clinical outcome.

Waelchli R1, Aylett SE2,3, Atherton D1, Thompson D4, Chong WK5, Kinsler VA1,6.
The British journal of dermatology.Br J Dermatol.2015 May 12. doi: 10.1111/bjd.13898. [Epub ahead of print]
BACKGROUND: The spectrum of CNS abnormalities described in association with congenital melanocytic naevi (CMN) includes congenital, acquired, melanotic and non-melanotic pathology. Historically, symptomatic CNS abnormalities have been considered to carry a poor prognosis, although studies from large
PMID 25966033

Japanese Journal

Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcon-tinent

Intractable & Rare Diseases Research 6(1), 58-60, 2017
NAID 130005466193

Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcon-tinent

Intractable & Rare Diseases Research, 2016
NAID 130005252479

PHACES症候群の1例

日本口腔外科学会雑誌 57(11), 587-590, 2011-11-20
NAID 10030273045

Related Pictures

★リンクテーブル★

リンク元	「神経皮膚症候群」「母斑症」
関連記事	「syndrome」

「神経皮膚症候群」

Phakomatosis
	Classification and external resources
ICD-10	Q85
ICD-9	759.5-759.6
DiseasesDB	31496
MeSH	D020752

　　[★]

英: neurocutaneous syndrome、neurocutaneous disorder
関: 母斑症 phakomatosis

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

「母斑症」

　　[★]

英: phacomatosis, phakomatosis
関: 神経皮膚症候群、neurocutaneous disorder、neurocutaneous syndrome

[show details]

phakomatosis : 約 40,200 件
phacomatosis : 約 51,900 件

「syndrome」

　　[★]

n.

症候群

[Rook.28FRCP..292004-1] Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–. ISBN 978-0-632-06429-8. http://books.google.com/books?id=t2tERO4tAg8C&pg=SA5-PA69. Retrieved 27 October 2010.

[2] vi_1/p/PHAKOMATOSIS article at GE's Medcyclopaedia

[3] Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. http://www.whonamedit.com/doctor.cfm/792.html. Retrieved 2007-07-13.

[YanoffDuker2009-4] Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. http://books.google.com/books?id=u43MTFr7-m8C&pg=PA937. Retrieved 27 October 2010.

匿名

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案内

案内

neurocutaneous syndrome