Cowden syndrome

カウデン症候群

WordNet

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

PrepTutorEJDIC

1. (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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/04/02 21:19:04」(JST)

wiki en

[Wiki en表示]

Cowden syndrome
Classification and external resources
hamartomatous papules on the area around the nose of a patient with Cowden syndrome
ICD-9	759.6
OMIM	158350
DiseasesDB	31336
eMedicine	derm/86
MeSH	D006223

Cowden syndrome (also known as "Cowden's disease," and "Multiple hamartoma syndrome") is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.

Cowden syndrome is associated with loss-of-function mutations in PTEN, a tumor suppressor gene, leading to hyperactivity of the mTOR pathway. These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple trichilemmomas, papillomatous papules, and acral keratoses) and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). In addition, there is a presdisposition to breast carcinoma, follicular carcinoma of the thyroid, and endometrial carcinoma.

Signs and symptoms

See also: List of cutaneous neoplasms associated with systemic syndromes

Clinical features of Cowden syndrome are diverse, including breast, endometrial, thyroid, kidney and colorectal cancers, dermatologic features such as oral and skin papillomas, trichilemmomas, gastrointestinal features such as mixed polyposis including hamartomas, and neurologic features such as Lhermitte–Duclos disease. Diagnostic criteria have evolved over the years; the most recent is the Cleveland Clinic scoring system in 2011 derived from 3,042 probands. For an individual patient, these features may be evaluated by the Cleveland Clinic web calculator to derive an individual probability of a relevant gene mutation.

The characteristic hamartomas of Cowden syndrome are small, noncancerous growths that are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but can also occur in the intestinal tract and other parts of the body. They are largely benign. However, people with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and uterus.

Up to 75% have benign breast conditions such as ductal hyperplasia, intraductal papillomatosis, adenosis, lobular atrophy, fibroadenomas, and fibrocystic changes. Nonmedullary thyroid cancer develops in up to 10 percent of affected individuals. In addition, over one-half of those affected have follicular adenomas or multinodular goiter of the thyroid. Other malignancies that appear to be associated with Cowden and Cowden-like syndrome include endometrial and renal cancers. Other signs and symptoms of Cowden syndrome can include an enlarged head, a rare noncancerous brain tumor called Lhermitte-Duclos disease, and glycogenic acanthosis of the oesophagus. The majority of affected individuals develop the characteristic skin lesions by age 20.

A 2010 review of 211 patients (21 from one center, and the remaining 190 from the external literature) studied the risks for cancer and Lhermitte-Duclos disease in Cowden syndrome patients.

Cumulative risk of any cancer diagnosis in female (red) and male (blue) patients with Cowden syndrome from birth to age 70 (Kaplan-Meier).

The cumulative lifetime (age 70 years) risks were 89% for any cancer diagnosis (95% confidence interval (CI) = 80%,95%), breast cancer [female] 81% (CI = 66%,90%), LDD 32% (CI = 19%,49%), thyroid cancer 21% (CI = 14%,29%), endometrial cancer 19% (CI = 10%,32%) and renal cancer 15% (CI = 6%,32%). A previously unreported increased lifetime risk for colorectal cancer was identified (16%, CI = 8%,24%). Male CS patients had fewer cancers diagnosed than female patients and often had cancers not classically associated with CS.

History

Cowden syndrome was first described in 1963 by Lloyd & Dennis. They named the condition after the surname of the patient.

Epidemiology

Because Cowden syndrome can be difficult to diagnose, the exact prevalence is unknown; however, it probably occurs in at least 1 in 200,000 people.

Genetics

Mutations in the PTEN gene cause Cowden syndrome. PTEN is a tumor suppressor gene, which means it helps control the growth and division of cells. Inherited mutations in the PTEN gene have been found in about 80 percent of people with Cowden syndrome. These mutations prevent the PTEN protein from effectively regulating cell survival and division, which can lead to the formation of tumors. Cowden syndrome is one of several inherited diseases caused by mutations in the PTEN gene.

In the other 20 percent of Cowden syndrome cases, the cause is not yet known. Some of these cases may be caused by mutations in a region of DNA that regulates the activity of the PTEN gene. Others may have mutations in certain subunits of succinate dehydrogenase, a mitochondrial enzyme. Recently, methylation of the KILLIN gene has also been reported in patients with similar clinical features.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new ("de novo") mutations in the gene. These cases occur in people with no history of the disorder in their family. It is characterized by numerous hamartomas, among other symptoms.

Treatment

Patients are usually managed by a multidisciplinary team including surgeons, gynecologists, and dermatologists because of the complex nature of this disorder. Follow-up for the increased risk of breast cancer risk includes monthly breast self-examination, annual breast examination, and mammography at age 30 or five years earlier than the youngest age of breast cancer in the family. The magnitude of the risk of breast cancer justifies routine screening with breast MRI as per published guidelines.

See also

• List of cutaneous neoplasms associated with systemic syndromes

Notes

References

• de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH, Schaapveld M, de Vries EG (2002). "Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility". J Med Genet 39 (4): 225–42. doi:10.1136/jmg.39.4.225. PMC 1735082. PMID 11950848. 
• Eng C (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". J Med Genet 37 (11): 828–30. doi:10.1136/jmg.37.11.828. PMC 1734465. PMID 11073535. 
• Kelly P (2003). "Hereditary breast cancer considering Cowden syndrome: a case study". Cancer Nurs 26 (5): 370–5. doi:10.1097/00002820-200310000-00005. PMID 14710798. 
• Pilarski R, Eng C (2004). "Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome". J Med Genet 41 (5): 323–6. doi:10.1136/jmg.2004.018036. PMC 1735782. PMID 15121767. 
• Waite KA, Eng C (2002). "Protean PTEN: Form and Function". Am J Hum Genet 70 (4): 829–44. doi:10.1086/340026. PMC 379112. PMID 11875759. 
• Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C (2003). "Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway". Am J Hum Genet 73 (2): 404–11. doi:10.1086/377109. PMC 1180378. PMID 12844284. 

External links

• GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS)
• Cancer.Net: Cowden Syndrome

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. カウデン症候群などのPTEN過誤腫症候群 pten hamartoma tumor syndrome including cowden syndrome
• 2. 遺伝性乳癌・卵巣癌症候群の特徴 characteristics of hereditary breast and ovarian cancer syndromes
• 3. 子宮体癌：臨床的特徴および診断 endometrial carcinoma clinical features and diagnosis
• 4. 内臓悪性腫瘍の皮膚症状 cutaneous manifestations of internal malignancy
• 5. 子宮平滑筋腫（子宮筋腫）の変異型 variants of uterine leiomyomas fibroids

English Journal

• The relationship between palisaded encapsulated neuroma and the mucocutaneous neuroma seen in multiple endocrine neoplasia 2b syndrome: a histopathologic and immunohistochemical study.

• Misago N1, Toda S, Narisawa Y.
• The American Journal of dermatopathology.Am J Dermatopathol.2014 Jul;36(7):562-9. doi: 10.1097/DAD.0000000000000021.
• : A relationship between the palisaded encapsulated neuroma (PEN) and the mucocutaneous neuroma seen in multiple endocrine neoplasia (MEN) 2b syndrome has been noted. We experienced a case of multiple mucocutaneous neuromas including both MEN 2b type neuromas and PENs. We evaluated the histopatholog
• PMID 24247580

• Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production.

• Tilot AK1, Gaugler MK2, Yu Q2, Romigh T2, Yu W2, Miller RH3, Frazier TW 2nd4, Eng C5.
• Human molecular genetics.Hum Mol Genet.2014 Jun 15;23(12):3212-27. doi: 10.1093/hmg/ddu031. Epub 2014 Jan 26.
• PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal-dominant genetic condition underlying a subset of autism spectrum disorder (ASD) with macrocephaly. Caused by germline mutations in PTEN, PHTS also causes increased risks of multiple cancers via dysregulation of the PI3K and MAPK signaling pathway
• PMID 24470394

• Association of Lhermitte-Duclos disease and split cord malformation in a child.

• Abi Lahoud G1, Chalouhi N2, Zanaty M2, Rizk T3, Jabbour P4.
• Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia.J Clin Neurosci.2014 Jun 14. pii: S0967-5868(14)00260-4. doi: 10.1016/j.jocn.2014.05.005. [Epub ahead of print]
• Lhermitte-Duclos disease (LDD) or cerebellar gangliocytoma is a rare pathological entity, the etiology of which remains controversial. Numerous developmental anomalies are known to be associated with LDD, but the association between LDD and split cord malformation (SCM) has not been reported to our
• PMID 24938384

Japanese Journal

• Cowden syndromeの一例

• 中村 緑佐,迫 裕孝,原田 俊平 [他]
• 京都府立医科大学雑誌 121(4), 223-229, 2012-04
• NAID 40019313879

• Cowden病に合併した子宮体癌の1例

• 吉田 卓功,大川 智実,若菜 公雄 [他]
• 東京産科婦人科学会会誌 60(3), 478-482, 2011-09
• NAID 40019362621

Related Links

• Cowden syndrome - Wikipedia, the free encyclopedia

Cowden syndrome (also known as "Cowden's disease," and "Multiple hamartoma syndrome") is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain ...

• Cowden syndrome - Genetics Home Reference

Provides an overview of this rare disorder characterized by multiple noncancerous, tumor-like growths and its genetic background.

Related Pictures

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★リンクテーブル★

リンク元	「癌」「ポイツ・ジェガース症候群」「消化管ポリポーシス」「家族性大腸腺腫症」「CS」
関連記事	「syndrome」

「癌」

　　[★]

英

cancer

関

悪性腫瘍

種類

• 癌腫(carcinoma):上皮性
• 肉腫(sarcoma):間葉系
• carcinoma：腺癌(adenocarcinma)、扁平上皮癌(squamous cell carcinoma)、移行上皮癌(transitional cell carcinoma)
• sarcoma：骨肉腫、横紋筋肉腫、平滑筋肉腫、脂肪肉腫、線維肉腫

---

Neoplasm	Causes	Effect
Small cell lung carcinoma	ACTH or ACTH-like peptide	Cushing’s syndrome
Small cell lung carcinoma and intracranial neoplasms	ADH	SIADH
Squamous cell lung carcinoma, renal cell carcinoma, breast carcinoma, multiple myeloma, and bone metastasis (lysed bone)	PTH-related peptide, TGF-β, TNF-α, IL-1	Hypercalcemia
Renal cell carcinoma, hemangioblastoma	Erythropoietin	Polycythemia
Thymoma, small cell lung carcinoma	Antibodies against presynaptic Ca2+ channels at neuromuscular junction	Lambert-Eaton syndrome (muscle weakness)
Leukemias and lymphomas	Hyperuricemia due to excess nucleic acid turnover (i.e., cytotoxic therapy)	Gout, urate nephropathy

• 最新癌統計

http://ganjoho.ncc.go.jp/public/statistics/pub/statistics01.html

●2005年の死亡数が多い部位は順に
	1位	2位	3位	4位	5位
男性	肺	胃	肝臓	結腸	膵臓	結腸と直腸を合わせた大腸は4位
女性	胃	肺	結腸	肝臓	乳房	結腸と直腸を合わせた大腸は1位
男女計	肺	胃	肝臓	結腸	膵臓	結腸と直腸を合わせた大腸は3位
●2001年の罹患数が多い部位は順に
	1位	2位	3位	4位	5位
男性	胃	肺	結腸	肝臓	前立腺	結腸と直腸を合わせた大腸は2位
女性	乳房*1	胃	結腸	子宮*1	肺	結腸と直腸を合わせた大腸は1位
男女計	胃	肺	結腸	乳房*1	肝臓	結腸と直腸を合わせた大腸は2位
*1上皮内がんを含む。

癌の素因となる遺伝子

HIM.494

Table 79-1 Cancer Predisposition Syndromes and Associated Genes
Syndrome	Gene	Chromosome	Inheritance	Tumors
ataxia telangiectasia	ATM	11q22-q23	AR	breast cancer
autoimmune lymphoproliferative syndrome	FAS	10q24	AD	lymphomas
	FASL	1q23
Bloom syndrome	BLM	15q26.1	AR	cancer of all types
Cowden syndrome	PTEN	10q23	AD	breast, thyroid
familial adenomatous polyposis	APC	5q21	AD	intestinal adenoma, colorectal cancer
familial melanoma	p16INK4	9p21	AD	melanoma, pancreatic cancer
familial Wilms tumor	WT1	11p13	AD	pediatric kidney cancer
hereditary breast/ovarian cancer	BRCA1	17q21	AD	breast, ovarian, colon, prostate
	BRCA2	13q12.3
hereditary diffuse gastric cancer	CDH1	16q22	AD	stomach cancers
hereditary multiple exostoses	EXT1	8q24	AD	exostoses, chondrosarcoma
	EXT2	11p11-12
hereditary prostate cancer	HPC1	1q24-25	AD	prostate carcinoma
hereditary retinoblastoma	RB1	13q14.2	AD	retinoblastoma, osteosarcoma
hereditary nonpolyposis colon cancer (HNPCC)	MSH2	2p16	AD	colon, endometrial, ovarian, stomach, small bowel, ureter carcinoma
	MLH1	3p21.3
	MSH6	2p16
	PMS2	7p22
hereditary papillary renal carcinoma	MET	7q31	AD	papillary renal tumor
juvenile polyposis	SMAD4	18q21	AD	gastrointestinal, pancreatic cancers
Li-Fraumeni	TP53	17p13.1	AD	sarcoma, breast cancer
multiple endocrine neoplasia type 1	MEN1	11q13	AD	parathyroid, endocrine, pancreas, and pituitary
multiple endocrine neoplasia type 2a	RET	10q11.2	AD	medullary thyroid carcinoma, pheochromocytoma
neurofibromatosis type 1	NF1	17q11.2	AD	neurofibroma, neurofibrosarcoma, brain tumor
neurofibromatosis type 2	NF2	22q12.2	AD	vestibular schwannoma, meningioma, spine
nevoid basal cell carcinoma syndrome (Gorlin's syndrome)	PTCH	9q22.3	AD	basal cell carcinoma, medulloblastoma, jaw cysts
tuberous sclerosis	TSC1	9q34	AD	angiofibroma, renal angiomyolipoma
	TSC2	16p13.3
von Hippel–Lindau	VHL	3p25-26	AD	kidney, cerebellum, pheochromocytoma

癌遺伝子、癌抑制遺伝子

癌の危険因子

生活習慣病#生活習慣病などのリスクファクターを改変

疾患		危険因子	防御因子
悪性腫瘍	胃癌	塩辛い食品、喫煙、くん製製品、ニトロソアミン土壌、腸上皮化生、Helicobacter pyroli	ビタミンC、野菜、果実
	食道癌	喫煙、飲酒、熱い飲食物	野菜、果実
	結腸癌	高脂肪食、肉食、低い身体活動、腸内細菌叢の変化、遺伝(家族性大腸腺腫症)
	肝癌	HBVキャリア・HCVキャリア、アフラトキシン、住血吸虫、飲酒
	肺癌	喫煙(特に扁平上皮癌)、大気汚染、職業的暴露(石綿(扁平上皮癌、悪性中皮腫)、クロム)	野菜、果実
	膵癌	高脂肪食、喫煙
	口腔癌	喫煙(口唇・舌-パイプ)、ビンロウ樹の実(口腔、舌)、飲酒
	咽頭癌	EBウイルス(上咽頭癌)、飲酒
	喉頭癌	喫煙、男性、アルコール
	乳癌	高年初産、乳癌の家族歴、肥満、未婚で妊娠回数少ない、無授乳、脂肪の過剰摂取、低年齢初経、高年齢閉経	母乳授乳
	子宮頚癌	初交年齢若い、早婚、多産、性交回数が多い(売春)、貧困、不潔]、HSV-2、HPV、流産、人工妊娠中絶回数が多い
	子宮体癌	肥満、糖尿病、ピル、エストロゲン常用、未婚、妊娠回数少ない、乳癌後のタモキシフエン内服
	膀胱癌	喫煙、鎮痛剤乱用、ビルハルツ住血吸虫、サッカリン、防腐剤
	皮膚癌	日光(紫外線)、ヒ素(Bowen病)
	白血病	放射線、ベンゼン、地域集積性(ATL)、ダウン症(小児白血病)
	骨腫瘍	電離放射線
	甲状腺癌	ヨード欠乏または過剰

「ポイツ・ジェガース症候群」

　　[★]

英

Peutz-Jeghers syndrome, PJS

同

ポイツ・イェガース症候群 ポイツ・イェガー症候群 Peutz-Jeghers症候群、過誤腫性大腸ポリポーシス、口唇掌蹠母斑腸管ポリポーシス

関

Peutz-Jeghers polyp Peutz-Jeghers polyps

大腸ポリポーシス、消化管ポリポーシス、神経皮膚症候群、母斑症

• familial polyposis syndrome

• familial adenomatous polyposis：APC gene
• Peutz-Jeghers syndrome：LKB1 gene
• Cowden syndrome：PTEN gene

概念

• 口唇の黒褐色色素沈着と消化管ポリープを主徴とする症候群。

病型

• 孤発性
• 遺伝性(30%の症例?)

病因

• germ-line mutations in the LKB1 gene
• 遺伝子変異：19p13.3 STK11, LKB1

疫学

• 発症は幼児期。
• 性差なし

遺伝形式

• 常染色体優性遺伝

• 大腸腺腫症ほど濃厚な家族内発生はみられない。

病理

• 過誤腫性ポリープ：粘膜筋板の樹枝状増生、腺管の延長と増生など。樹枝状に分枝してており、ポリープの茎が太いため腸重積をきたしやすい。

症状

• 初発症状：口唇色素沈着、腹痛、消化管出血、腸重積
• 皮膚粘膜症状

• 黒褐色の色素沈着：口唇、口腔粘膜、指趾、足底など

• 色素沈着は表皮基底層におけるメラニン細胞の増殖とメラニン色素沈着による。思春期以降は退色。

• 消化管

• ポリポーシス：過誤腫性ポリープ hamartomatous polyp
• 食道を除く全消化管。小腸に好発(70%)。

合併症

• 腸重積
• 悪性腫瘍：

• 消化管、皮膚、卵巣、子宮。ポリープ自体の癌化率は低いが、消化器、性腺など他の部位の癌化率は高い(QB.A-398)。
• 一生涯の腫瘍発生率は37-93%、相対危険度は10-18。悪性腫瘍が派生する平均年齢は42歳。好発部位は結直腸癌、乳癌、胃癌、小腸癌、膵癌の順に多い。(1644人の患者を対象とした20のコホート研究のシステミックレビューによる)(参考1)

治療

手術療法

• 適応：ポリープが原因により出血、イレウスをきたした場合。腺腫合併例や癌化例。

予後

• 大腸に生じたものは癌化しやすい
• a benign polyposis syndrome is not a risk factor for colorectal cancer (first aid step1 2006 p.277)
• 消化管外の悪性腫瘍の発生リスクが上昇する

参考

• 1. PEUTZ-JEGHERS SYNDROME; PJS - OMIM

http://omim.org/entry/175200

• 2. [charged] Overview of Peutz-Jeghers syndrome - uptodate [1]
• 3. [charged] Peutz-Jeghers syndrome and juvenile polyposis: Screening and management of patients and families - uptodate [2]

「消化管ポリポーシス」

　　[★]

英

gastrointestinal polyposis, polyposis of the alimentary tract

関

ポリポーシス、消化管ポリープ

消化管ポリポーシス

QB.A-396改変

	遺伝性	部位	組織型	ポリープ以外の症状	悪性腫瘍
家族性大腸腺腫症	AD	大腸	腺腫	胃・小腸腺腫	必発
ガードナー症候群	AD	大腸	腺腫	骨、軟部腫瘍	必発
ターコット症候群	AR	大腸	腺腫	中枢神経腫瘍	高率
ポイツ・ジェガース症候群	AD	消化管	過誤腫	色素沈着	まれ
若年性ポリポーシス	AD	大腸	過誤腫	×	×
クロンカイト・カナダ症候群	×	消化管	過形成	色素沈着、脱毛、爪萎縮、蛋白漏出	×

SSUR.545

• 遺伝性

• 腫瘍性

• 家族性大腸腺腫症 家族性大腸ポリポーシス familial adenomatous polyposis：AD。APC遺伝子変異。大腸ポリポーシス、胃・小腸腺腫。悪性化
• ガードナー症候群 Gardner syndrome：AD。APC遺伝子変異。大腸ポリポーシス、軟部組織腫瘍(表皮性嚢胞)、多発性骨腫。悪性化。
• ターコット症候群 Turcot syndrome：AR。大腸ポリポーシス、中枢神経腫瘍。悪性化高率。
• ツァンカ症候群 Zanca syndrome

• 過誤腫性

• 若年性大腸ポリポーシス
• ポイツ・ジェガース症候群 Peutz-Jeghers syndrome：AD。LKB1遺伝子変異。大腸の過誤腫。色素沈着。悪性化まれ。
• カウデン症候群 Cowden syndrome：AD。PTEN遺伝子変異。消化管に多発性の過誤腫性ポリープ、皮膚の角化性丘疹。多臓器の悪性腫瘍合併。

• 非遺伝性

• 炎症性ポリポーシス
• 過形成ポリポーシス
• クロンカイト・カナダ症候群 Cronkhite-Canada syndrome：大腸粘膜の過形成。色素沈着、脱毛、爪萎縮、蛋白漏出性胃腸症。悪性化なし。

「家族性大腸腺腫症」

　　[★]

英

familial adenomatous polyposis, FAP

同

家族性大腸ポリポーシス ,familial polyposis coli, FPC, 家族性大腸ポリープ症, familial adenomatous polyposis coli

家族性ポリポーシス familial polyposis syndrome familial polyposis

関

大腸ポリポーシス

• familial polyposis syndrome

• familial adenomatous polyposis：APC gene
• Peutz-Jeghers syndrome：LKB1 gene
• Cowden syndrome：PTEN gene

概念

• 癌抑制遺伝子APC geneのloss of functionにより、大腸全体にびまん性に腺腫を生ずる。

分類

• 家族性大腸腺腫症のうち、以下の合併症を伴う物はそれぞれ家族性大腸腺腫症の下位概念として名称が与えられている

• ガードナー症候群 Gardner syndrome：多発性骨腫、軟部組織腫瘍 (YN.A.-74)
• ターコット症候群 Turcot syndrome ：中枢神経系腫瘍 (YN.A.-74)

SSUR.546によると、Garder症候群 ≒ 家族性大腸腺腫症。すなわち「古典的なGardner症候群の類似疾患である」(SSUR.546)

疫学

• 70%が遺伝性で、30%が孤発性。

遺伝形式

• 常染色体性優性遺伝

症状

合併症

• 消化管：大腸。60-70%の症例で　→　小腸・胃(胃底腺領域)・十二指腸
• 消化管外：顎骨内骨腫、顎骨以外の骨病変、網膜色素斑、体表の軟部組織腫瘍、デスモイド腫瘍、歯牙腫、甲状腺癌、子宮癌

予後

• 大腸癌は20歳ごろから発生、40歳で50%リスク、60歳でほぼ全例。癌により死亡する平均の年齢は42歳。(YN.A-74)

「CS」

　　[★]

• コケイン症候群 Cockayne syndrome
• サイクロセリン cycloserine
• 冠状静脈洞 coronary sinus
• カウデン症候群 Cowden syndrome
• 膀胱鏡 cystoscope
• 帝王切開術 帝王切開 cesarean section
• クリニカルシナリオ clinical scenario
• 頚部変形性脊椎症 cervical spondylosis

「syndrome」

　　[★]

• n.

• 症候群