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{{Cowden syndrome}}
{{Cowden syndrome}}
{{CMG}}
'''For patient information, click [[Cowden syndrome (patient information)|here]]'''


==Overview==
{{CMG}}; {{AE}} {{VKG}}
'''Cowden syndrome''' is an [[inherited disorder]] characterized by multiple tumor-like growths called [[hamartoma]]s and an increased risk of certain forms of [[cancer]]. Almost everyone with this condition has hamartomas. These small, noncancerous growths 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. People with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and uterus.  Indeed, women with Cowden syndrome have as much as a 25-50% lifetime risk of developing breast cancer. ({{cite book
  | last = Robbins & Cotran
  | first =
  | authorlink =
  | coauthors =
  | title = Pathological Basis of Disease, 7th Edition
  | publisher = Elsevier
  | date = 2004
  | location =
  | pages = 1134
  | url =
  | doi =
  | id =  }}) Noncancerous breast and thyroid diseases are also common. Other signs and symptoms of Cowden syndrome can include an enlarged head, a rare noncancerous brain tumor called [[Lhermitte-Duclos disease]] and mental retardation.


==Epidemiology==
{{SK}} Cowden disease; CD; Cowden's disease; CS; Multiple hamartoma syndrome; MHAM
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==
==[[Cowden syndrome overview|Overview]]==
Mutations in the [[PTEN (gene)|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.
==[[Cowden syndrome historical perspective|Historical Perspective]]==


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 mutations in the gene. These cases occur in people with no history of the disorder in their family.  It is characterized by numerous [[hamartoma]]s, among other symptoms.
==[[Cowden syndrome classification|Classification]]==


{{reflist|2}}
==[[Cowden syndrome pathophysiology|Pathophysiology]]==
* {{cite journal | author=de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH, Schaapveld M, de Vries EG | title=Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility | journal=J Med Genet | year=2002 | pages=225-42 | volume=39 | issue=4  | id=PMID 11950848}}
* {{cite journal | author=Eng C | title=Will the real Cowden syndrome please stand up: revised diagnostic criteria | journal=J Med Genet | year=2000 | pages=828-30 | volume=37 | issue=11  | id=PMID 11073535}}
* {{cite journal | author=Kelly P | title=Hereditary breast cancer considering Cowden syndrome: a case study | journal=Cancer Nurs | year=2003 | pages=370-5 | volume=26 | issue=5  | id=PMID 14710798}}
* {{cite journal | author=Pilarski R, Eng C | title=Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome | journal=J Med Genet | year=2004 | pages=323-6 | volume=41 | issue=5  | id=PMID 15121767}}
* {{cite journal | author=Waite KA, Eng C | title=Protean PTEN: form and function | journal=Am J Hum Genet | year=2002 | pages=829-44 | volume=70 | issue=4  | id=PMID 11875759}}
* {{cite journal | author=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 | title=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 | journal=Am J Hum Genet | year=2003 | pages=404-11 | volume=73 | issue=2  | id=PMID 12844284}}


{{Phakomatoses and other congenital malformations not elsewhere classified}}
==[[Cowden syndrome causes|Causes]]==


[[de:Cowden-Syndrom]]
==[[Cowden syndrome differential diagnosis|Differentiating Cowden Syndrome from other Diseases]]==
[[fr:Syndrome de Cowden]]
[[pl:Zespół Cowdena]]


[[Category:Hereditary cancers]]
==[[Cowden syndrome epidemiology and demographics|Epidemiology and Demographics]]==
[[Category:Rare diseases]]
 
[[Category:Genetic Disease]]
==[[Cowden syndrome risk factors|Risk Factors]]==
{{WH}}
 
{{WS}}
==[[Cowden syndrome screening|Screening]]==
 
==[[Cowden syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
 
==Diagnosis==
[[Cowden syndrome diagnostic study of choice|Diagnostic study of choice]] | [[Cowden syndrome history and symptoms|History and Symptoms]] | [[Cowden syndrome physical examination|Physical Examination]] | [[Cowden syndrome laboratory findings|Laboratory Findings]] | [[Cowden syndrome electrocardiogram|Electrocardiogram]] | [[Cowden syndrome x ray|X-Ray Findings]] | [[Cowden syndrome echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Cowden syndrome CT scan|CT-Scan Findings]] | [[Cowden syndrome MRI|MRI Findings]] | [[Cowden syndrome other imaging findings|Other Imaging Findings]] | [[Cowden syndrome other diagnostic studies|Other Diagnostic Studies]]
 
==Treatment==
[[Cowden syndrome medical therapy|Medical Therapy]] | [[Cowden syndrome surgery|Surgery]] | [[Cowden syndrome primary prevention|Primary Prevention]] | [[Cowden syndrome secondary prevention|Secondary Prevention]] | [[Cowden syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Cowden syndrome future or investigational therapies|Future or Investigational Therapies]]
 
==Case Studies==
[[Cowden syndrome case study one|Case #1]]

Latest revision as of 15:46, 26 March 2019

Cowden syndrome Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

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Screening

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Diagnosis

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History and Symptoms

Physical Examination

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Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

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Treatment

Medical Therapy

Surgery

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords: Cowden disease; CD; Cowden's disease; CS; Multiple hamartoma syndrome; MHAM

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Cowden Syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic study of choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI Findings | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

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