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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/21 11:04:07」(JST)

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Phakomatoses (or "neuro-oculo-cutaneous syndromes") are multisystem disorders that have characteristic central nervous system, ocular and cutaneous lesions of variable severity. 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" , matos -mother and the suffix -osis, also called "Mother's spot " or " Birth mark "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[edit]

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[edit]

^ Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–. ISBN 978-0-632-06429-8. Retrieved 27 October 2010.
^ "Phakomatosis". Medcyclopaedia. GE. Archived from the original on 2012-02-05.
^ Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. Retrieved 2007-07-13.
^ Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. 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[edit]

1147863071 at GPnotebook
KidsHealth
OSU

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1. 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
2. 遺伝性皮膚症 the genodermatoses
3. 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
4. 神経線維腫症I型（フォンレックリングハウゼン病） neurofibromatosis type 1 von recklinghausens disease
5. シェーグレン・ラルソン症候群 sjogren larsson syndrome

English Journal

Hemimegalencephaly: what happens when children get older?

Wu N1, Borlot F, Ali A, Krings T, Andrade DM.
Developmental medicine and child neurology.Dev Med Child Neurol.2014 Sep;56(9):905-9. doi: 10.1111/dmcn.12390. Epub 2014 Feb 5.
AIMS: Hemimegalencephaly (HME) is a rare congenital malformation of cortical development, usually associated with developmental delay and severe epilepsy. This condition has rarely been reported in adults. The aim of this study was to examine and compare neurological findings in adult patients with
PMID 24494819

Neurocutaneous melanosis is associated with tethered spinal cord.

Tian AG1, Foster KA, Jakacki RI, Reyes-Múgica M, Greene S.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery.Childs Nerv Syst.2014 Aug 15. [Epub ahead of print]
PURPOSE: Neurocutaneous melanosis (NCM) is a rare congenital disorder occurring in children born with multiple or large congenital melanocytic nevi (CMN) in association with melanocytic deposits in the leptomeninges. Multiple associations between NCM and other syndromes or neurologic abnormalities h
PMID 25119153

Sturge Weber-Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1.

Chatterjee S1, Mukherjee SB2, Mendiratta V3, Aneja S2.
Journal of child neurology.J Child Neurol.2014 Aug 12. pii: 0883073814542947. [Epub ahead of print]
A 10-year-old girl presented with poorly controlled epilepsy. On evaluation, she had microcephaly, neuro-cutaneous stigmata of tuberous sclerosis complex, profound mental retardation, and spastic hemiparesis. Computed tomography (CT) revealed a calcified subependymal nodule and extensive left gyral
PMID 25117416

Japanese Journal

Optic Disc Hemangioblastoma (Capillary Hemangioma) with Ipsilateral Oculodermal Melanocytosis

FINE Howard F.,SHIELDS Jerry A.,FISHER Yale L.,YANNUZZI Lawrence A.
Japanese journal of ophthalmology 52(3), 233-234, 2008-05-01
NAID 10024154179

Sturge-Weber 症候群の画像所見-CT, MRI所見を中心に

中田安浩,柳下章,土屋一洋
日本醫學放射線學會雜誌 64(4), 210-215, 2004-05-25
NAID 10013298901

Related Pictures

★リンクテーブル★

リンク元	「神経皮膚症候群」「母斑症」

「神経皮膚症候群」

Phakomatoses
	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

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

[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. Retrieved 27 October 2010.

[2] "Phakomatosis". Medcyclopaedia. GE. Archived from the original on 2012-02-05.

[3] Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. Retrieved 2007-07-13.

[YanoffDuker2009-4] Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. Retrieved 27 October 2010.

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phakomatosis