WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)
verb / verso / 《話》very / velocity / volt[s] / volume / vide
…から(from),…の(of)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/17 11:12:36」(JST)

wiki en

Neurofibromatosis (NF) refers to a number of inherited conditions that are clinically and genetically distinct and carry a high risk of tumor formation, particularly in the brain.^[1] Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well (it is rarely the case that one person has the mutated gene twice, which would imply a 100% chance of his or her children developing NF). The severity in affected individuals can vary; this may be due to variable expressivity. Approximately half of cases are due to de novo mutations and no other affected family members are seen. It affects males and females equally. In addition, some individuals may have mosaic NF, in which some but not all cells of the body carry the mutation. The neurofibromatoses are as follows:

Neurofibromatosis type I, in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues.
Neurofibromatosis type II, in which bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma) develop, often leading to hearing loss.
Schwannomatosis, in which painful schwannomas develop on cranial, spinal and peripheral nerves.

Conditions which may be confused with NF-1 but which are not considered NF include:

LEOPARD syndrome
Legius syndrome
Proteus syndrome

The neurofibromatoses are considered as RASopathies and as members of the neurocutaneous syndromes (phakomatoses).^[2] In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome, and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.

Symptoms

Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia.
NF2 is less common and is characterized by slow-growing tumors on the eighth cranial nerves. The tumors cause pressure damage to neighboring nerves. [Diagnostic signs include] eighth nerve tumors, cataracts at an early age or changes in the retina that may affect vision, other nervous system tumors and similar signs and symptoms in a parent, sibling, or child.

The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes."

— National Institute of Neurological Disorders and Stroke^[3]

Prognosis

In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.
— NINDS^[3]

Education

Recently, non-profit and charitable organizations have started to bring awareness and education about Neurofibromatoses to mainstream media in order to better connect those afflicted with helpful resources to lead more productive and satisfying lives.^[4] Personalities with the condition, such as Reggie Bibbs, are becoming notable public figures around which others can rally to gain motivation and support.^[5]

References

^ Ferner, Rosalie E., Susan M. Huson, and D. Gareth R. Evans. Neurofibromatoses in clinical practice. Springer, 2011.
^ Conrad Fischer, Farshad Bagheri, Rajpal Manchandani, Richard Pinsker, Sudheer Chauhan, Parenkumar Patel, Mohammad Maruf, Dhaval Satani, Kaushik Doshi, Ayaz Alwani, Naveen Pathak, Craigh Thurm, Mohammad Babury, Mahendra C. Patel, Arthur Shalanov, Samir Sarkar, Sabiha Raouf, Jebun Nahar, Prakashkumar Patel (2010). Master the Board USMLE Step 2 CK. KAPLAN Medical. p. 287. ISBN 978-1-60714-653-7.
^ ^a ^b "NINDS Neurofibromatosis Information Page". 23 February 2015. Retrieved 2015-04-21.
^ "About the Foundation « Just Ask! Foundation". Justaskfoundation.org. Retrieved 2014-04-17.
^ Wikinews:Interview with Reggie Bibbs on his life with neurofibromatosis

External links

Children's Tumor Foundation
National Institute of Neurological Disorders and Stroke - information on Neurofibromatosis
Neurofibromatosis Type 1
A comprehensive list of current NF research studies, maintained by the St. Louis Children's Hospital

UpToDate Contents

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1. 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
2. 神経線維腫症2型 neurofibromatosis type 2
3. カウデン症候群などのPTEN過誤腫症候群 pten hamartoma tumor syndrome including cowden syndrome
4. Paragangliomas: Epidemiology, clinical presentation, diagnosis, and histology
5. 軟部および骨肉腫の病原因子 pathogenetic factors in soft tissue and bone sarcomas

English Journal

Hybrid schwannoma-perineurioma of the gastrointestinal tract: a clinicopathologic study of 2 cases and reappraisal of perineurial cells in gastrointestinal schwannomas.

Agaimy A, Michal M.Source*Institute of Pathology, University Hospital, Erlangen, Germany †Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic.
Applied immunohistochemistry & molecular morphology : AIMM / official publication of the Society for Applied Immunohistochemistry.Appl Immunohistochem Mol Morphol.2011 Oct;19(5):454-9.
Soft tissue neoplasms with features of both schwannoma and perineurioma (hybrid schwannoma-perineurioma) have been increasingly recognized in recent years. To date, only a single case of this entity has been documented in the gastrointestinal tract (sigmoid colon). We herein describe 2 new cases of
PMID 21297443

Neurofibromatosis type 1 associated with bilateral central giant cell granuloma of the mandible.

Chrcanovic BR, Gomez RS, Freire-Maia B.SourceDepartment of Oral and Maxillofacial Surgery, School of Dentistry, (Head: Belini Freire-Maia), Pontificia Universidade Catolica de Minas Gerais, Av. Dom Jose Gaspar, 500 Predio 45, Coracao Eucaristico-30535-610, Belo Horizonte, MG, Brazil.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery.J Craniomaxillofac Surg.2011 Oct;39(7):538-43. Epub 2010 Nov 11.
Neurofibromatosis type 1, or von Recklinghausen disease, is one of the most common hereditary neurocutaneous disorders in humans. Clinically, Neurofibromatosis type 1 is characterized by cafe-au-lait spots, freckling, skin neurofibroma, plexiform neurofibroma, bony defects, Lisch nodules and tumors
PMID 21071237

Japanese Journal

Spontaneous Hemothorax Associated with von Recklinghausen's Disease : Report of a Case

MIYAZAKI Takuro,TSUCHIYA Tomoshi,TAGAWA Tsutomu,YAMASAKI Naoya,NAGAYASU Takeshi
Annals of thoracic and cardiovascular surgery 17(3), 301-303, 2011-06-01
… A 59-year-old woman with a history of von Recklinghausen’s disease (VRD) suffered sudden chest pain. … Spontaneous hemothorax in patients with von Recklinghausen’s disease represents a critical event, and exploratory video-assisted thoracic surgery appears useful in the removal of clotted blood and reinforcement of fragile arteries for the prevention of re-bleeding. …
NAID 10029687179

胃カルチノイド, 空腸GISTおよび肺癌を併発した von Recklinghausen 病の1例

奥村直樹,徳山泰治,山口和也,長田真二,岩田尚,広瀬善信,吉田和弘
日本臨床外科学会雑誌 = The journal of the Japan Surgical Association 72(5), 1297-1301, 2011-05-25
NAID 10029099634

Related Pictures

★リンクテーブル★

リンク元	「神経皮膚症候群」「神経線維腫症1型」「眼球突出」「neurofibromatosis type 1」「type 1 neurofibromatosis」
関連記事	「disease」「von Recklinghausen」「Recklinghausen」「VON」

「神経皮膚症候群」

Neurofibromatosis
	Back of an elderly woman with neurofibromatosis
Classification and external resources
Specialty	Neurosurgery
ICD-10	Q85.0
ICD-9-CM	237.7
ICD-O	M9540/0
OMIM	162200 101000,162091
eMedicine	derm/287
Patient UK	Neurofibromatosis
MeSH	D017253

　　[★]

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

「神経線維腫症1型」

　　[★]

英: neurofibromatosis type 1, NF1
同: フォン・レックリングハウゼン病, (国試)von Recklinghausen病, von Recklinghausen's disease, von Recklinghausen disease、皮膚弛緩症
関: 神経線維腫症

[show details]

フォン・レックリングハウゼン病 : 約 99,200 件
フォン・レクリングハウゼン病 : 約 99,200 件
レックリングハウゼン病 : 約 81,200 件
レクリングハウゼン病 : 約 10,500 件

概念

多発性のカフェオレ斑。神経線維腫。

病因

NF1の変異。17q11.2に座乗。ニューロフィブロミンをコード。rasに関係する系を抑制する癌抑制遺伝子。

遺伝

常染色体優性遺伝
浸透率：100%

疫学

3000出生に1人
60-70%が孤発例

病変形成＆病理

症状

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

骨症状

脊柱や胸郭の変形。四肢骨の変形。約半数の症例で見られる。

眼症状

虹彩小結節(リッシュ結節 Lisch結節)

中枢神経

脳神経・脊髄神経の神経線維腫、グリア細胞腫、髄膜腫

精神症状

てんかん発作、精神遅滞

合併症

骨腫瘍、白血病

診断

長径1.5cm以上のカフェオレ斑が6個以上存在すること

診断基準(NIH)

◎以下の所見のうち、2つ以上を有すること.

1. 5mm以上のカフェオレ斑が6個以上(思春期前)。15mm以上のカフェオレ斑が6個以上(思春期後)
2. 2つ以上の神経線維腫か、末梢神経内に1つ以上の神経線維腫
3. 腋窩あるいは鼠径部の色素斑
4. 眼窩内の神経線維腫
5. 2個以上のLisch結節
6. 骨の異常
7. NF1の家族歴

検査

治療

カフェオレ斑：レーザー治療、皮膚剥削術
神経線維腫：外科切除

予後

生命予後は良好

参考

1. NEUROFIBROMATOSIS, TYPE I; NF1

http://omim.org/entry/162200

「眼球突出」

　　[★]

英: exophthalmos
ラ: exophthalmus
同: 眼球前出 ocular proptosis, proptosis
関: 眼球突出症

原因

SOP.183改変

片眼性眼球突出

副鼻腔疾患に起因：

眼窩内組織の炎症

海綿静脈洞血栓腫
頚動脈海綿静脈洞瘻
眼窩出血眼窩腫瘍

両眼性眼球突出

甲状腺眼症(グレーブス病)
骨疾患に起因：

代謝疾患に起因

ハンド・シュラー・クリスチャン病

不明

腫瘍性病変

フォン・レックリングハウゼン病 von Recklinghausen disease 神経線維腫症1型:眼窩内の神経線維腫や眼科壁破壊による

未分類：ウェゲナー肉芽腫症、神経芽腫の眼窩転移

徴候

「neurofibromatosis type 1」

　　[★]

神経線維腫症1型

関: neurofibromatosis 1、neurofibromatosis I、neurofibromatosis type I、type 1 neurofibromatosis、type I neurofibromatosis、von Recklinghausen disease、von Recklinghausen's disease、Watson syndrome

「type 1 neurofibromatosis」

　　[★]