basal cell nevus syndrome

WordNet

1. small room in which a monk or nun lives (同)cubicle
2. a device that delivers an electric current as the result of a chemical reaction (同)electric cell
3. a room where a prisoner is kept (同)jail cell, prison cell
4. (biology) the basic structural and functional unit of all organisms; they may exist as independent units of life (as in monads) or may form colonies or tissues as in higher plants and animals
5. any small compartment; "the cells of a honeycomb"
6. a small unit serving as part of or as the nucleus of a larger political movement (同)cadre
7. of primary importance (同)primary
8. serving as or forming a base; "the painter applied a base coat followed by two finishing coats" (同)base
9. a pattern of symptoms indicative of some disease
10. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (刑務所の)『独房』;(修道院の)小さい独居室 / (ミツバチの)みつ房,巣穴 / 小さい部屋 / 『細胞』 / 電池 / 花粉室 / (共産党などの)細胞
2. 基底の,基部の / 基礎的な,基本的な
3. (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
4. 母斑(ぼはん)(先天性のあざ・ほくろ・そばかすなど)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/07/09 19:43:27」(JST)

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Nevoid Basal Cell Carcinoma Syndrome
Classification and external resources
Micrograph showing keratocystic odontogenic tumour, a common finding in nevoid basal cell carcinoma syndrome. H&E stain.
ICD-10	Q87.0
OMIM	109400
DiseasesDB	5370
MedlinePlus	001452
eMedicine	derm/291
MeSH	C04.182.089.530.690.150

Nevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell nevus syndrome, multiple basal cell carcinoma syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome, is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancers.

About 10% of people with the condition do not develop basal cell carcinomas (BCCs). The name Gorlin syndrome refers to researcher Robert J. Gorlin (1923–2006).

First described in 1960, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,000-164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm 9q. If a child inherits the defective gene from either parent, he or she will have the disorder.

Incidence

About 750,000 new cases of sporadic basal cell carcinomas (BCCs) occur each year in the United States. Ultraviolet (UV) radiation from the sun is the main trigger of these cancers, and people with fair skin are especially at risk. Most sporadic BCCs arise in small numbers on sun-exposed skin of people over age 50, although younger people may also be affected. By comparison, NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in Australia. One aspect of NBCCS is that basal cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of palmar and plantar pits. One of the prime features of NBCCS is development of multiple BCCs at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.

Components

Some or all of the following may be seen in someone with Gorlin Syndrome:

1. Multiple basal cell carcinomas of the skin
2. Odontogenic keratocyst: Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 yrs average).
3. Rib and vertebrae anomalies
4. Intracranial calcification
5. Skeletal abnormalities: bifid ribs, kyphoscoliosis, early calcification of falx cerebri (diagnosed with AP radiograph)
6. Distinct faces: frontal and temporopariental bossing, hypertelorism, and mandibular prognathism

Diagnostic criteria

Diagnosis of NBCCS is made by having 2 major criteria or 1 major and 2 minor criteria. [2]

The major criteria consist of the following:

1. more than 2 BCCs or 1 BCC in a person younger than 20 years;
2. odontogenic keratocysts of the jaw
3. 3 or more palmar or plantar pits
4. ectopic calcification or early (<20 years) calcification of the falx cerebri
5. bifid, fused, or splayed ribs
6. first-degree relative with NBCCS.

The minor criteria include the following:

1. macrocephaly.
2. congenital malformations, such as cleft lip or palate, frontal bossing, eye anomaly (cataract, coloboma, microphtalmia, nystagmus).
3. other skeletal abnormalities, such as Sprengel deformity, pectus deformity, polydactyly, syndactyly or hypertelorism.
4. radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
5. ovarian and cardio fibroma or medulloblastoma (the latter is generally found in children below the age of two).

People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. They should reduce UV light exposure, to minimize the risk of BCCs. They should also be advised that receiving Radiation therapy for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition.

Genetic counseling is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected.

Treatment

Treatment is usually supportive treatment, that is, treatment to reduce any symptoms rather than to cure the condition.

• Enucleation of the odontogenic cysts can help but new lesions, infections and jaw deformity are usually a result.
• The severity of the basal cell carcinoma determines the prognosis for most patients. BCCs rarely cause gross disfigurement, disability or death [3].
• Genetic counseling

See also

• List of cutaneous conditions
• List of radiographic findings associated with cutaneous conditions
• List of dental abnormalities associated with cutaneous conditions
• List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer

References

External links

• GeneReviews/NCBI/NIH/UW entry on Nevoid Basal Cell Carcinoma Syndrome
• GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion
• US National Library of Medicine page

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 母斑性基底細胞癌症候群 nevoid basal cell carcinoma syndrome
• 2. 基底細胞癌の疫学および臨床的特徴 epidemiology and clinical features of basal cell carcinoma
• 3. 遺伝性皮膚症 the genodermatoses
• 4. 小児における中枢神経系腫瘍の疫学 epidemiology of central nervous system tumors in children
• 5. 大動脈弁狭窄症における大動脈弁口面積 aortic valve area in aortic stenosis

English Journal

• Dermoscopy for the Pediatric Dermatologist, Part II: Dermoscopy of Genetic Syndromes with Cutaneous Manifestations and Pediatric Vascular Lesions.

• Haliasos EC, Kerner M, Jaimes N, Zalaudek I, Malvehy J, Lanschuetzer CM, Hinter H, Hofmann-Wellenhof R, Braun RP, Marghoob AA.SourcePrivate practice, Warren, New Jersey.
• Pediatric dermatology.Pediatr Dermatol.2012 Sep 20. doi: 10.1111/j.1525-1470.2012.01874.x. [Epub ahead of print]
• Genetic syndromes including basal cell nevus syndrome (BSNS), xeroderma pigmentosum (XP), and epidermodysplasia verruciformis (EV) predispose the individual to skin cancer. Basal cell carcinomas (BCCs) often develop in patients with BCNS and XP. One of the aims of surveillance examination in these p
• PMID 22994304

• Papular Epidermal Nevus with "Skyline" Basal Cell Layer (PENS) with Extracutaneous Findings.

• Rodríguez-Díaz E, Gonzalvo P, Colmenero I, Requena L, Hernández-Martín A, Torrelo A.SourceDepartments of Dermatology Pathology, Hospital de Cabueñes, Gijón, SpainDepartments of Pathology Dermatology, Hospital del Niño Jesús, Madrid, Spain Department of Dermatology, Fundación Jiménez Díaz, Madrid, Spain.
• Pediatric dermatology.Pediatr Dermatol.2012 Sep 18. doi: 10.1111/j.1525-1470.2012.01830.x. [Epub ahead of print]
•   Papular epidermal nevus with "skyline" basal cell layer (PENS), a variant of epidermal nevus, was recently described in otherwise normal children. We describe herein a patient with multiple, typical PENS lesions associated with peculiar facies, bilateral Achilles tendon shortening, and mild psyc
• PMID 22985090

Japanese Journal

• 症例 髄膜腫を合併した基底細胞母斑症候群の1例

• 屋代 未佳,上田 喬士,船津 栄 [他]
• 皮膚科の臨床 54(8), 1143-1147, 2012-08
• NAID 40019404644

• Situs inversus in a patient with nevoid basal cell carcinoma syndrome: a histogenetic relationship?

• Gupta Monika,Das Debdutta,Mittal Amit,Kaur Harkamal,Malhotra Aayush
• Journal of Oral Science 53(2), 253-256, 2011
• … Nevoid basal cell carcinoma syndrome (NBCCS) is an uncommon autosomal dominant inherited disorder with high penetrance and variable expressivity. …
• NAID 130000834368

Related Links

• Basal cell nevus syndrome: MedlinePlus Medical Encyclopedia

Basal cell nevus syndrome is a group of defects, passed down through families, that involve the skin, nervous system, eyes, endocrine glands, and bones. The condition causes an unusual facial appearance and a higher risk of skin cancers.

• Nevoid basal cell carcinoma syndrome - Wikipedia, the free ...

Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as basal cell nevus syndrome, multiple basal cell carcinoma syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome, is an inherited medical condition involving defects within ...

Related Pictures

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★リンクテーブル★

リンク元	「神経皮膚症候群」「基底細胞母斑症候群」
関連記事	「basal」「cell」「syndrome」

「神経皮膚症候群」

　　[★]

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

「基底細胞母斑症候群」

　　[★]

英

basal cell nevus syndrome

関

ゴーリン症候群、母斑性基底細胞癌症候群

「basal」

　　[★]

• adj.

• 基礎の、基本の、基底の

関

base、basement、bases、basic、basis、element、elementary、fundamental、fundamentals、fundus、ground

　 　 　

「cell」

　　[★] 細胞 　 　 　 　 　 　 　

「syndrome」

　　[★]

• n.

• 症候群