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         Cowden Syndrome:     more detail
  1. Cowden syndrome more common than suspected. (Genetic Cancer Syndrome).: An article from: Skin & Allergy News by Bruce Jancin, 2003-03-01
  2. Cowden Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  3. Cowden syndrome more common than suspected: linked to breast cancer risk. (Clinical Rounds).: An article from: Internal Medicine News by Bruce Jancin, 2003-04-01
  4. Genetic cancer syndrome more common than suspected. (Cowden Syndrome).: An article from: Family Practice News by Bruce Jancin, 2003-03-01

1. Cowden Syndrome
cowden syndrome. multiple hamartoma syndrome GItract hamartomas (incl.stomach and colon). breast Ca; thyroid Ca. circumoral papillomatosis;
http://chorus.rad.mcw.edu/doc/00100.html
CHORUS Collaborative Hypertext of Radiology Colon
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Cowden syndrome
"multiple hamartoma syndrome"
  • GI-tract hamartomas (incl. stomach and colon)
  • breast Ca
  • thyroid Ca
  • circumoral papillomatosis
  • nodular gingival hyperplasia
See also: polyposis syndromes Charles E. Kahn, Jr., MD - 2 February 1995
Last updated 26 May 2004

Medical College of Wisconsin

2. Cowden Syndrome
Background. cowden syndrome (CS) is a autosomal dominant inherited syndrome. Cowdensyndrome and LhermitteDuclos disease. Cancer 1992;70869-76.
http://www.thedoctorsdoctor.com/diseases/cowdensyndrome.htm
Background Cowden syndrome (CS) is a autosomal dominant inherited syndrome. These patients are characterized by multiple hamartomas occurring in the skin, breast, thyroid, gastrointestinal tract, endometrium, and brain. Patients do have an increased risk of experiencing malignant tumors with the most common ones are breast, endometrial, and thyroid cancer. SYNONYMS Multiple hamartoma syndrome PATHOGENESIS CHARACTERIZATION Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome J Am Acad Dermatol 2001;44:183-7 Single kindred with individuals manifesting both CS and BZS phenotypes (CS/BZS overlap family) Novel mutation in PTEN by DNA sequencing. The PTEN gene (phosphatase and tensin homolog deleted from chromosome 10) has been identified as the susceptibility gene for CS and BZS Also known as MMAC1 (mutated in multiple advanced cancers) or TEP1 (TGF-regulated and e pithelial cell-enriched p hosphatase), is a tumor suppressor gene located on chromosome 10q23.28-30 It has 9 exons that encode a protein of 403 amino acids. The presence of individuals with CS and BZS within the same family, and moreover the identification of identical PTEN gene mutations in these individuals, suggest that these two syndromes represent different phenotypic expressions of one disease

3. Virtual Children's Hospital: Cowden Syndrome: A Guide For Patients And Their Fam
This booklet, from UI Hospitals and Clinics, supplements information provided by members of your health care team about cowden syndrome. That's Not the Name My Doctor Gave Me. What is cowden syndrome? Common Characteristics of cowden syndrome
http://www.vh.org/pediatric/patient/cancercenter/cowden
Cowden Syndrome: A Guide for patients and their families
Sarah Burton, UI Health Care
Joy Larsen Haidle, M.S., C.G.C., UI Health Care
Heather Hampel, M.S., C.G.C., Ohio State University
Charis Eng, M.D., Ph.D., Ohio State University
Peer Review Status: Internally reviewed by the authors
First Published:
Last Revised: April 2002 Table of Contents Introduction
This material supplements information provided by physicians, nurses, genetic counselors, and other members of your health care team about Cowden syndrome. It does not replace regular medical care or discussions with your physician and health care team. If you see a an unfamiliar term, please consult the Glossary of Terms See related Patient Textbooks about Cancer Center or Pediatrics See related Patient Topics Cancer Center CancerGeneral Cancers Digestive DiseasesGeneral ... Genetics or Pediatrics See related Provider Textbooks about or Pediatrics See related Provider Topics Cancers Digestive DiseasesGeneral Digestive System Genetics or Pediatrics Virtual Hospital Home Virtual Children's Hospital Home Site Map ... UI Health Care Home http://www.vh.org/pediatric/patient/cancercenter/cowden/index.html

4. Cowdens Syndrome
newsletter. Tools. cowden syndrome is an inhereted genetic disease Currently, about 80% of the cowden syndrome patients have a mutation that can be found in the test
http://groups.msn.com/cowdenssyndrome/cowdensyndrome.msnw
var nEditorialCatId = 102; MSN Home My MSN Hotmail Shopping ... Money Web Search: Weight Loss Fitness Tips Medical Experts Health News Groups Groups Home My Groups Language ... Help Cowdens Syndrome cowdenssyndrome@groups.msn.com What's New Join Now Welcome Message Board ... Tools Cowden syndrome is an inhereted genetic disease. If you have it your child has a 50% chance of having it. If your parent had it you also have a 50% chance of having it. It is caused by a mutation of the Pten gene. It is inhereted equally by both sexes, although the childhood version of the disease tends to be more common in males. The Pten gene is a cell regulator gene. This means it is one of our genes that helps control cell growth. We get two copies of this gene from our parents,and if one is damaged it is harder for the body to control cell growth. Due to this problem people who have the damaged gene and have cowdens syndrome or BRRS,which is the childhood version of the disease tend to easily grow various things on their body. The most common growth in the adult and childhood version of the disease is a hamartoma. Genetics people have recently renamed both diseases to "The Pten Hamartoma Tumor Syndrome". A hamartoma is basically an overgrowth of the same tissue on where its located. A lung hamartoma is lung tissue, a breast hamartoma is breast tissue. In Cowdens Syndrome the most known risks for these hamartomas to turn cancerous are in the breast.

5. Virtual Children's Hospital: Cancer: Cowden Syndrome
cowden syndrome A Guide for patients and their families What is CowdenSyndrome? Sarah Burton, UI Health Care Joy Larsen Haidle, MS
http://www.vh.org/pediatric/patient/cancercenter/cowden/whatisit.html
Cowden Syndrome
A Guide for patients and their families
What is Cowden Syndrome?
Sarah Burton, UI Health Care
Joy Larsen Haidle, M.S., C.G.C., UI Health Care
Heather Hampel, M.S., C.G.C., Ohio State University
Charis Eng, M.D., Ph.D., Ohio State University
Peer Review Status: Internally reviewed by the authors
First Published:
Last Revised: April 2002 Cowden syndrome is a poorly recognized and thus under-diagnosed condition characterized by multiple hamartomas and a risk of breast, thyroid, and uterine neoplasias (both benign and malignant). The most consistent features of CS, occurring in 99 percent of individuals with this clinical diagnosis, are found on the skin. These are small flesh-colored bumps on the skin involving a hair follicle (trichilemmomas) and small wart-like growths (papillomatous papules). Less commonly, CS is associated with a large head size (macrocephaly), benign fatty tumors (lipomas), and blood vessel changes (hemangiomas). The frequency of hamartomatous polyps of the small and large intestine is unknown, but is thought to occur in fewer than 40 percent of CS individuals. What is known is that CS hamartomatous polyps are rarely symptomatic. Please see Diagram 1. There is no clinical data that tells us when the features begin to appear in CS. However, we do know that more than 90 percent of individuals with CS have some features by the age of 20.

6. Cowden Syndrome - Genetics Home Reference
Genetic disorder catalog. cowden syndrome. What is cowden syndrome?cowden syndrome retardation. How common is cowden syndrome? Because
http://ghr.nlm.nih.gov/condition=cowdensyndrome
A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Cowden syndrome
Cowden syndrome
What is Cowden syndrome?
Cowden syndrome is an inherited disorder characterized by multiple tumor-like growths (called hamartomas) and an increased risk of certain cancers. 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. Noncancerous breast and thyroid disease are also common. Other symptoms of Cowden syndrome can include an enlarged head; a rare, noncancerous brain tumor called Lhermitte-Duclos disease; and mental retardation.
How common is Cowden syndrome?

7. Cowden Syndrome - Genetics Home Reference
Conditions. Genes. Understand Genetics. Resources. Glossary. About. Help. cowden syndrome. What is cowden syndrome? People with cowden syndrome have an increased risk of developing several types
http://www.ghr.nlm.nih.gov/ghr/disease/cowdensyndrome
A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Cowden syndrome
Cowden syndrome
What is Cowden syndrome?
Cowden syndrome is an inherited disorder characterized by multiple tumor-like growths (called hamartomas) and an increased risk of certain cancers. 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. Noncancerous breast and thyroid disease are also common. Other symptoms of Cowden syndrome can include an enlarged head; a rare, noncancerous brain tumor called Lhermitte-Duclos disease; and mental retardation.
How common is Cowden syndrome?

8. Cowden Syndrome - Sources For This Page - Genetics Home Reference
cowden syndrome. Back to condition summary. cowden syndrome. Eng C. Will the realcowden syndrome please stand up revised diagnostic criteria. J Med Genet.
http://ghr.nlm.nih.gov/condition=cowdensyndrome/show/Sources for this page
A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Cowden syndrome
Cowden syndrome
Sources for this page
These resources supplement the information in the Genetics Home Reference condition summary on Cowden syndrome. Last Comprehensive Review: May 2003 Updated: March 31, 2004 Published: May 28, 2004 This is a page from Genetics Home Reference Contact Us Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine ... Accessibility

9. EMedicine - Cowden Disease (Multiple Hamartoma Syndrome) : Article By Charles Mi
Background Cowden disease (CD), also termed cowden syndrome and multiple hamartoma syndrome, is an Mallory SB cowden syndrome (multiple hamartoma syndrome). Dermatol Clin 1995
http://www.emedicine.com/derm/topic86.htm
(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Internal Medicine
Cowden Disease (Multiple Hamartoma Syndrome)
Last Updated: July 10, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: multiple hamartoma syndrome, Cowden syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
Author: Charles Miller, MD , Dermatologist, Department of Dermatology, Southern California Kaiser Permanente Charles Miller, MD, is a member of the following medical societies: American Academy of Dermatology Editor(s): Craig A Elmets, MD , Director of Dermatology, Departments of Dermatology, Professor, Pathology, Environmental Health Sciences, The Kirklin Clinic, University of Alabama at Birmingham; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Lester Libow, MD

10. Cowden Syndrome - Information / Diagnosis / Treatment / Prevention
home genetic disorders cowden syndrome cowden syndrome. Web Directory? cowden syndrome A CHORUS notecard document about this syndrome.
http://www.healthcyclopedia.com/genetic-disorders/cowden-syndrome.html

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Related Topics: Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "cowden syndrome" Health News: Search millions of published articles for news on Cowden Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Cowden Syndrome A CHORUS notecard document about this syndrome. Cowdens Syndrome Support Group Offers information and message boards for families and patients affected by the disease. Emergency Medicine A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up.

11. Search: - Info.co.uk
Results for cowden syndrome from Info.co.uk metasearch. Find better search results from the Web, Yellow Pages and White Pages quickly and easily! Image URL Cowden's syndrome, Image URL Cowden's
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12. ORPHANET - Rare Diseases - Orphan Drugs
Contact, Order the Orphanet book, Printing version, DISEASE cowden syndrome,Synonym(s) Multiple hamartoma syndrome, ICD Q85.8, No description is available,
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=201

13. EMedicine - Cowden Disease (Multiple Hamartoma Syndrome) : Article Excerpt By: C
Cowden Disease (Multiple Hamartoma Syndrome) Cowden disease (CD), also termed cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that
http://www.emedicine.com/derm/byname/cowden-disease-(multiple-hamartoma-syndrome
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Excerpt from Cowden Disease (Multiple Hamartoma Syndrome)
Synonyms, Key Words, and Related Terms: multiple hamartoma syndrome, Cowden syndrome
Please click here to view the full topic text: Cowden Disease (Multiple Hamartoma Syndrome)
Background: Cowden disease (CD), also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results from a mutation in the PTEN gene on chromosome arm 10q, as reported by Liaw et al. CD causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, central nervous system (CNS), eyes, and genitourinary tract. Skin is involved in 90-100% of cases; the thyroid in 66%. Mucocutaneous features of CD include trichilemmomas, oral mucosal papillomatosus, acral keratoses, and palmoplantar keratoses. CD is associated with the development of several types of malignancy, which is why recognition of individuals with the syndrome is important. In particular, a marked increase is seen in the incidence of breast carcinoma in women and of thyroid carcinoma in both men and women. Reports also exist of several other types of malignancies occurring in patients with CD. Pathophysiology: CD is caused by a mutation in the PTEN tumor suppressor gene (also termed or ) on chromosome 10q23. The protein product of the gene is a phosphatase that regulates the function of other proteins by removing phosphate groups from those molecules. The

14. Cowden Syndrome
cowden syndrome. The risk for breast of specific noncancerous features.cowden syndrome is associated with the following characteristics
http://bonsecourshamptonroads.greystone.net/Content.asp?PageID=I220

15. Disease Directory : Genetic Disorders : Cowden Syndrome
Diseases Genetic Disorders cowden syndrome. AVM Cowden s Syndrome Cowden sSyndrome. I have Cowden s Syndrome, my sister does also. cowden syndrome.
http://www.diseasedirectory.net/Genetic_Disorders/Cowden_Syndrome/default.aspx
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16. Disease Directory : Cowden Syndrome
A CHORUS notecard document about this syndrome....... Diseases Genetic Disorders Organizations cowden syndrome. Title CowdenSyndrome
http://www.diseasedirectory.net/detailed/10442.aspx
Wednesday, June 02, 2004 Genetic Disorders
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Title: Cowden Syndrome
Description: A CHORUS notecard document about this syndrome.
Date Added: 2/4/2004 1:24:51 PM
URL: http://chorus.rad.mcw.edu/doc/00100.html

17. Genetic Disorders, Cowden Syndrome
Submit Your Site to the cowden syndrome category. Sponsored cowden syndromeSites. Submit Your Site to the cowden syndrome category. Sponsored Results.
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18. Genetic Disorders, Cowden Syndrome
Category Home Health Conditions and Diseases Genetic Disorders cowden syndrome. * Site Title ยท The name of the site. (eg
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19. Cancer Center
Genetics Cancer cowden syndrome. cowden syndrome. The features.cowden syndrome is associated with the following characteristics
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Cowden Syndrome
The risk for breast cancer is increased with Cowden syndrome, a rare autosomal dominant disorder that is also associated with a number of specific noncancerous features. Cowden syndrome is associated with the following characteristics:
  • multiple hamartomatous lesions (benign, or noncancerous, tumors of normal organ tissue) of the skin and other organs, usually present by the late 20s
    macrocephaly (increased head size)
    increased risk of breast cancer, with an average age of onset ranging from 38 to 46 years
    increased risk of thyroid cancer
    increased risk of endometrial cancer
Additional features can include noncancerous thyroid lesions, hamartomatous intestinal polyps, lipomas (benign fatty tumors), fibromas, uterine fibroids, and fibrocystic disease of the breast. Cowden syndrome is caused by mutations in a gene on chromosome 10 known as PTEN. About 80 percent of people whose symptoms meet the criteria for a diagnosis of Cowden syndrome will have a PTEN mutation. Mutations in PTEN confer a 25 percent to 50 percent lifetime risk for breast cancer, about a 10 percent risk of thyroid cancer, and potentially up to a 5 percent to 10 percent risk of endometrial cancer, although this risk is still being evaluated. Some individuals who have inherited a germline PTEN mutation never develop cancer because they never get the second mutation necessary to knock out the function of the gene and start the process of tumor formation. This can make the cancer appear to skip generations in a family, when, in reality, the mutation is present. Persons with a mutation, regardless of whether they develop cancer, however, have a 50/50 chance to pass the mutation on to the next generation.

20. Conditions And Diseases - Cowden Syndrome Top Links
cowden syndrome Web Site Links. Emergency cowden syndrome A CHORUS notecarddocument about this syndrome. Other Useful Health Web Links. National
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Cowden Syndrome Web Site Links Emergency Medicine A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up.
Cowdens Syndrome Support Group
Offers information and message boards for families and patients affected by the disease.
Cowden Syndrome
A CHORUS notecard document about this syndrome.
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