21. Cowden Syndrome breast, endometrial, and thyroid cancer. SYNONYMS, multiple hamartoma syndrome. PATHOGENESIS, CHARACTERIZATION. Identification of a PTEN 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

22. Birth Disorder Information Directory - M Multiple Epiphyseal Dysplasia See Beighton Goldberg Hoff Syndrome. multiple hamartoma syndrome See Cowden Syndrome. Multiple Hereditary http://www.bdid.com/defectm.htm

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23. Birth Disorder Information Directory - CO-CZ Syndrome (Cystic Hygroma Lethal Cleft Palate) Cowchock wapner kurtz syndrome. Cowden( s) Disease/Syndrome (multiple hamartoma syndrome) http://www.bdid.com/defectco.htm

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24. Virtual Children's Hospital: Cancer: Cowden Syndrome It is also known as multiple hamartoma syndrome. PTEN Hamartoma Tumor syndrome; Macrocephaly, pseudopapilledema, multiple hemangiomata syndrome; http://www.vh.org/pediatric/patient/cancercenter/cowden/othernames.html

Cowden Syndrome A Guide for patients and their families That's Not The Name My Doctor Gave Me 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 Other Names The use of different names can be confusing. The problem started when several different groups of physicians and researchers began describing collections of features they observed in their patients. Each group believed that they were describing a new condition. Because CS consists of various features that occur at different times or not at all, the names became even more confused. Simply put, different people will show different features even though they have the same genetic condition. That was enough to make researchers at the time believe they were describing different conditions. In fact, scientists did not realize that all these names were describing one condition until 1986 when it was proposed that Bannayan syndrome and Ruvalcaba-Myhre syndrome were one and the same. In 1996, the overlap of features in CS and Bannayan-Riley-Ruvalcaba syndrome was recognized and molecular evidence for this observation was reported in 1997 and 1999. Since then, many names have been added to the list of syndromes. Below are several names that you may encounter as well. Bannayan-Zonana syndrome Riley-Smith syndrome Ruvalcaba-Myhre syndrome

25. Virtual Hospital: Cancer Prevention: Definition Of Terms Cowden Syndrome Also known as multiple hamartoma syndrome. Affects primarily women, causes skin rashes, tiny wartlike bumps, thyroid http://www.vh.org/adult/patient/cancercenter/prevention/preventionterms.html

For Patients Cancer Prevention: What You Need To Know Definition of Terms Peer Review Status: Internally Reviewed by Cancer Center Staff Creation Date: 1996 Last Revision Date: April 2001 3rd edition Agammaglobulinemia : An immunologic deficiency characterized by extremely low levels of all classes of gamma-globulin in the blood. It is associated with the increased risk of colorectal cancer. Ataxia-Telangiectasia : This inherited disorder affects many multiple systems in the body, including progressive degeneration of the cerebellum, a part of the brain, the appearance of spider veins, immunodeficiency that leads to recurrent respiratory infections, and a predisposition to cancer. It may include cancer of the brain, breast, leukemia, lymphoma, skin, stomach and uterus. Basal Cell Nevus Syndrome Bloom Syndrome : An inherited disorder characterized by short height, a sun-sensitive redness on the face, susceptibility to infections, and a tendency to develop several types of cancers, including breast, cervix, colon, esophagus, larynx, lung, skin, and tongue cancers, and leukemia and lymphoma. : A mutation prevents this gene from producing a tumor suppression protein which controls cell growth. This gene was discovered in 1995 and is linked to breast and pancreatic cancer, and possibly colon and prostate cancer.

26. Kprones CowdenID10018 Other names, multiple hamartoma syndrome. Cowden s disease (multiple hamartoma and neoplasia syndrome) a case report and review of the English literature. http://www.infobiogen.fr/services/chromcancer/Kprones/CowdenID10018.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Cowden Disease Identity Other names Multiple hamartoma syndrome Inheritance autosomal dominant; high penetrance (close to 100% by the age of 30 yrs); highly variable expressivity (between and within families) Clinics Phenotype and clinics clinical manifestations usually occur during the 2nd and 3rd decade; they are dystrophic, hamartomatous or tumoral lesions including the following to variable extend: - mucocutaneous papillomatous lesions (facial papules, sometimes related to trichilemmoma; oral papillomatosis with cobblestone gingiva; acral keratoses) - both dystrophic and adenomatous multinodular goiter - intestinal tract polyps with variable histologies - adenosis and fibrocystic disease of the breast - macrocephaly - lipomas - genito-urinary abnormalities Overlapping syndromes Bannayan-Riley-Ruvalcaba syndrome including precocious stigmata of Cowden disease (macrocephaly, lipomas, genital pigmented macules, hamartomatous intestinal tract polyps) is considered as a pediatric form of Cowden disease Lhermitte Duclos syndrome or dysplastic gangliocytoma of the cerebelum is a rare and complex hamartomatous condition of the cerebellum which can occur alone but also in association with Cowden disease juvenile polyposis and Peutz Jeghers syndrome : Cowden disease, by its intestinal tract lesions can be linked to the scope of hereditary hamartomatous polyposis; molecular diagnosis can be useful in distinguishing juvenile polyposis, Peutz Jeghers syndrome or Cowden disease/Bannayan

27. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/M Moyamoya Disease@ (6); Mucopolysaccharidosis 3@ (6); Multiple Chemical Sensitivity@ (30); multiple hamartoma syndrome@ (3); Multiple Myeloma http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/M

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28. Cowden Syndrome III. Etiology. A. multiple hamartoma syndrome with high risk for benign and malignant tumors of breast, thyroid, and endometrium. A. multiple hamartoma syndrome. http://www.genesoc.com/counseling/Outlines/Cowden syndrome.htm

Resources for Genetic Counselors site updated May 10, 2004 outlines links search Cowden Syndrome (Dec 2002) I. Contracting A. What were you told about why you were referred? B. What would you like to learn today? C. Do you have any questions or concerns that you would like us to address? II. Medical and Family Histories A. Breast cancer? Endometrial cancer? Benign or malignant tumor of thyroid? B. Renal cell carcinomas, melanoma, glioblastoma? C. Hamartomas of colon, GI tract? D. Macrocephaly? Mental retardation? E. Facial or oral mucocutaneous lesions (trichilimmomas)? F. Fibrocystic breast disease? G. Lipomas or fibromas? H. Lhermitte-Duclos disease (hamartoma of cerebellum) – altered gait or seizures? III. Etiology A. Multiple hamartoma syndrome with high risk for benign and malignant tumors of breast, thyroid, and endometrium B. Part of PTEN hamartoma tumor syndrome (PHTS) Includes Cowden syndrome, Bannayan-Riley-Ruvalcaba, Proteus syndrome, and Proteus-like syndrome Causes hamartomas and cancer due to PTEN mutations C.

29. Lhermitte-Duclos Disease CancerGene Card PTEN BannayanZonana syndrome Multiple Hamartoma (Cowden syndrome) Gene Atlas PTEN. Cowden Disease (multiple hamartoma syndrome). http://tbase.jax.org/docs/Pten.html

Current Feature in TBASE by Anna V. Anagnostopoulos DECEMBER 2001 Pten loxP/loxP Gfap-cre mice: A Mouse Model of Lhermitte-Duclos Disease Other names for PTEN (phosphatase and tensin homolog) Bannayan-Zonana syndrome (BZS); Multiple Hamartoma (MHAM, Cowden syndrome); Mutated in Multiple Advanced Cancers 1 TGFb regulated and Epithelial cell enriched Phosphatase 1 (TEP1) Other names for Lhermitte-Duclos Disease COWDEN SYNDROME; CS MULTIPLE HAMARTOMA SYNDROME; MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED; CPD VI, INCLUDED CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED LHERMITTE-DUCLOS DISEASE, INCLUDED; LDD, INCLUDED December 2001 features a mouse model of the human Lhermitte-Duclos Disease , a component of Cowden syndrome characterized by hamartomas of the brain and overgrowth of hypertrophied granule cells in the cerebellum. PTEN mutations have been found in the autosomal dominant harmatoma syndromes Cowden disease and Bannayan-Riley-Ruvalcaba syndrome , which are believed to constitute a single syndrome. In man, clinical features of

30. Best Practice Medicine-Professional Reference - Skin Signs Of FULL SIZE. Figure 20. Cowden s disease (multiple hamartoma syndrome). Cowden s disease (multiple hamartoma syndrome). FULL SIZE. Figure 21. http://merck.praxis.md/index.asp?page=bpm_report&article_id=CPM02DE407§ion=r

31. Dictionary Definition Of MULTIPLE HAMARTOMA SYNDROME syndrome /B B a clinical Translate this page 3. Porter S, Cawson R, Scully C, et al. multiple hamartoma syndrome presenting with oral lesions. Mallory SB. Cowden syndrome (multiple hamartoma syndrome). http://www.dictionarybarn.com/MULTIPLE-HAMARTOMA-SYNDROME.php

Dictionary definition of MULTIPLE HAMARTOMA SYNDROME Browse Dictionary by alphabet A B C D ... Z Top Words mu mucamide mucase mucate ... mucosal graft Hypertrichosis and gingival fibromatosis from infancy, accompanied by postpubertal fibroadenomatous breast enlargement; papules of the face are characteristic of multiple trichilemmomas. Synonym: multiple hamartoma syndrome. Please select first two letters of word you are looking for MA MB MC MD ... MZ fiSearchFormMaxSetId='AX006027'; Top Words mucosal relief radiography mucosal tunics mucosanguineous mucosectomy ... Home Sponsored By: Michigan Hotels Minnesota Hotels Mississippi Hotels

32. Neoplasms Hamartoma Syndrome, Multiple. About Cowden Syndrome The Doctor s Doctor. Cowden Disease (multiple hamartoma syndrome) C Miller - eMedicine. http://www.mic.ki.se/Diseases/c4.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Neoplasms Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Adenoma Angiofibroma Arachnoid Cysts Arachnoid Cysts ... Uterine Neoplasms Neoplasms Cancer.gov including the PDQ database , a section on Cancer Treatment Information , a collection of Cancer Profilers (Treatment Decision Tools) , and a News Center - National Cancer Institute/NIH (US) OncoLink - Univ of Pennsylvania (US) MD Anderson Cancer Center including a set of Practice Guidelines - University of Texas (US) The Comprehensive Cancer Center at the University of Michigan (US) The American Cancer Society , and Cancer Medicine e.5 [full-text book online] Online Cancer Information and Support Electronic Groups [G Frydman] - ACOR Cancer Management - A Multidisciplinary Approach [online book, 2001; eds. Pazdur et al.] S Dunn's Cancer Guide - (US) Macmillan Cancer Relief project Cancer Track [Vara, Herbst and Lilenbaum]

33. TRICHILEMMOMA Cowden s syndrome (multiple hamartoma syndrome) is an autosomal dominant disease characterized by multiple cutaneous hamartoma (trichilemmoma, fibroma http://www.geocities.com/sampyroy2000/T.html

TRICHILEMMOMA Dr. Sampurna Roy M.D. HOME Trichilemmoma arises from the outer sheath of the hair follicle (mainly of the bulb region). Clinically the tumour presents as solitary or multiple papules in adults . These are dome shaped, flesh coloured lesions usually less than 5mm in diameter. Common sites are face, nose, eyelids, lips and oral cavity. Cowden's syndrome (multiple hamartoma syndrome) is an autosomal dominant disease characterized by multiple cutaneous hamartoma (trichilemmoma, fibroma, verrucous lesions),visceral hamartoma (hyperplastic gastric polyp) or visceral carcinoma (breast carcinoma). Histologically trichilemmoma is a symmetrical tumour with well circumscribed margin resting on PAS positive thickened basement membrane.The tumour is composed of glycogenated clear epithelial cells with peripheral palisading in deeper parts. These cells are PAS diastase positive. Some lesions contain eosinophilic "intermediate cells" (some times known as follicular poroma).The architectural patterns ranges from follicle like,vertically orientated , bulbous, lobular, verrucous or acrospiroma like. In many cases there is broad connection with overlying surface epithelium .Some trichilemmomas display connection with individual hair follicle. DESMOPLASTIC TRICHILEMMOMA: This is a variant of trichilemmoma characterized by extensive stromal component together with complex strands of clear epithelial cell in the periphery. Stroma is also present in the centre of epithelial nodules. Eosinophilic, amorphous alcian blue and PAS diastase positive material may be present (basement membrane material). CD34 positive cells are identified in trichilemmoma. The stroma contains vimentin positive cells.

34. CUTANEOUS MARKERS OF INTERNAL MALIGNANCY Syndrome. Inheritance. Manifestations. Associated malignancy. 9 Cowden s syndrome (multiple hamartoma syndrome). Autosomal dominant. http://www.geocities.com/stantonios/mc/maligmrk.html

Cutaneous Markers of Internal Malignancy http://www.medicad.com I. Direct tumour spread: The skin is a relatively uncommon site for metastatic deposits compared to organs such as liver, lung and bone. The most common sources of cutaneous metastases are lung, breast and colon. Renal and thyroid skin deposits may be vascular and are occasionally misdiagnosed as benign haemangiomas. Direct invasion of the skin: The most frequent cause is carcinoma of the breast either as skin ulceration, Paget's disease, carcinoma erysipeloides, or carcinoma en cuirasse. Squamous-cell carcinoma of the oral cavity also may ulcerate onto the face. Paget's disease of the breast is an epidermal manifestation of an underlying ductal adenocarcinoma. Extramammary Paget's, e.g. in anogenital area may be a marker of underlying neoplasia such as adenocarcinoma of the rectum. Specific cutaneous infiltrations may occur with lymphoma and leukaemia II. The genetic group:

35. Cancer Spectrum CANCERLIT® Citation Abstract A case of Cowden disease (multiple hamartoma syndrome) with marked gastrointestinal polyposis is presented. The differential http://jncicancerspectrum.oupjournals.org/cgi/cancerlit/3615854

Content Sources... JNCI: Current Issue Past Issues Monographs Collections Online Perspectives Journals Cancer News Databases: PDQ PDR Cancer Drugs Cochrane Reviews IARC Monographs Statistics: SEER IARC Incidence WHO Mortality Calendar Useful Links Cancer Dictionary Sign In to JNCI Cancer Spectrum Quick Search Select area All JNCI Journals Cancer Statistics PDQ Cochrane Reviews IARC Monographs PDR Calendar Useful Links Other Search Options Current Issue Past Issues Monographs ... Submission Information Free Sample Issue Table of Contents Alerting Editorial Board About JNCI Search JNCI Other Journals ... Search Cancer Statistics Subscriptions Advertising About JNCI Cancer Spectrum Contact Us Go To: Home [Gastrointestinal polyposis in the Cowden syndrome] Author: P Kullnig, H Steiner, G Porsch, and J Smolle Source: Radiologe 1987;27(5): 232-4 UI:87290531 Abstract: A case of Cowden disease (multiple hamartoma syndrome) with marked gastrointestinal polyposis is presented. The differential diagnosis of gastrointestinal polyposis syndromes is discussed. Mesh Terms: Adult Case Report English Abstract Hamartoma Syndrome, Multiple

36. Images.MD: View Collection Click here for more detail about this image. multiple hamartoma syndrome. Click here for more detail about this image. Multiple polyps in Cowden s syndrome. http://images.md/users/explore_chapter.asp?ID=GIC0301-12&colID=GIC0301&coltitle=

37. Multiple Sclerosis Mouth Cancer@ (27) Moyamoya Disease@ (5) Mucopolysaccharidosis 3@ (4) Multiple Chemical Sensitivity@ (26) multiple hamartoma syndrome@ (3) Multiple Myeloma@ (16 http://www.thenewhealthfind.com/health/Multiple sclerosis

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38. Conditions And Diseases: M| Treasure Coast Health Mucopolysaccharidosis 3@ (6); Multiple Chemical Sensitivity@ (28); multiple hamartoma syndrome@ (3); Multiple Myeloma@ (18); Multiple Personality http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis

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39. Cowdenin Syndrooma Cowdenin syndrooma. Synonyymejä hamartomatous syndrome, multiple hamartoma syndrome, multiple hamartoma and neoplasia syndrome. http://www.helsinki.fi/~usinisal/Cowden.html

Cowdenin syndrooma : hamartomatous syndrome, multiple hamartoma syndrome, multiple hamartoma and neoplasia syndrome (Devlin ym., 1992; Hanssen ym., 1995). Taudille ovat ominaisia ihon, limakalvojen, rintojen ja kilpirauhasen ekto-, meso- ja endodermaaliset hamartomatoottiset leesiot. Taudin kliininen merkitys on sen yhteys erityisesti rinnoissa ja kilpirauhasessa oleviin maligneihin tuumoreihin. (Lloyd ym., 1963; Haibach ym., 1992) (Lloyd ym., 1963). (Bagan ym., 1989; Harned ym., 1995) (Bardenstein ym., 1988; Bagan ym., 1989) (Williard ym., 1992) Kliininen kuva Iholeesiot (Bagan ym., 1989) (Steffen ym., 1993) (Fielding, 1993) (Saccardi ym., 1994) (Bagan ym., 1989; Bardenstein ym., 1988; Fielding, 1993) (Saccardi ym., 1994) (Bardenstein ym., 1988; Sabin ym., 1988; Fielding, 1993) (Sabin ym., 1988) (Sabin ym., 1988) (Fielding, 1993) Histologia (Bardenstein ym., 1988; Saccardi ym., 1994) (Bardenstein ym., 1988) (Bardenstein ym., 1988) Limakalvoleesiot Suun limakalvon leesiot ovat luultavasti tunnusomaisempia kuin iholeesiot - niitä on noin 86%:lla potilaista. Leesiot käsittävät papuloita, jotka voivat olle pieniä ja lukuisia tai papillomatoottisia ja syylämäisiä muodostelmia, jotka usein yhdistyvät ja peittävät laajoja alueita suun limakalvoa ja saavat limakalvon näyttämään "mukulakivimäiseltä". Suun limakalvon papillomatoosi käsittää pääasiassa sileäpintasia papuloita, jotka ovat ikenissä, kielessä, huulessa, uvulassa ja suulaessa.

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