61. Immunology And Uveitis Service | Medical Professionals | Articles | Case Reports Uveitis and Glaucoma in cowden syndrome. Therapeutical challenge. Margherita E.Meniconi. Intraocular pressure was 19mmHg. cowden syndrome (CS) Introduction. http://www.uveitis.org/medical/articles/case/Cowden_sy.html

Treatment Algorithms Articles Textbook Clinical Trials ... Case Reports Uveitis and Glaucoma in Cowden Syndrome. Therapeutical challenge. Margherita E. Meniconi Introduction Case presentation A caucasian female, age 22, was referred for recommendations for treatment of uveitic glaucoma in her remaining right eye. Her past ocular history was significant for bilateral uveitis at age 4, complicated by retinal detachment OS and OS phthisis. Her right eye needed surgical excision of a vitreo-retinal traction band. After a period of stability, retinal detachment developed in the right eye and was successfully treated with pars plana vitrectomy and scleral buckling at age 13 years. Secondary cataract developed, requiring cataract extraction. Best-corrected vision at age 14 was 20/40. The intraocular pressure was normal until age 17. Glaucoma then developed, and the pressure was around 29 mmHg, despite therapy with dorzolamide, timolol, brimodine and latanaprost. The review of system was significant for status post pneumonia at age 16 and status post thyroidectomy two years earlier and recent diagnosis of Cowden Syndrome.

62. ZapMeta Directory > Health > Conditions And Diseases > Genetic Disorders > Cowde Web Sites in Category cowden syndrome Display results 1 3 of 3 matches.•. cowden syndrome open this site in a new window Past Versions http://www.zapmeta.com/search/meta/db.pl?dir=560734

63. Entrez PubMed Click here to read Male breast cancer in cowden syndrome patients withgermline PTEN mutations. Fackenthal JD, Marsh DJ, Richardson http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

64. Entrez PubMed Click here to read Will the real cowden syndrome please stand up reviseddiagnostic criteria. Eng C. Clinical Cancer Genetics Program http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

65. CancerGene MHAM Aliases, Name, multiple hamartoma (cowden syndrome). Locus, 10q22q23. OMIM, 158350,GDB, 118839, Hanssen AM;Fryns JP cowden syndrome. J Med Genet 1995 Feb;32(2)117-9. http://caroll.vjf.cnrs.fr/cancergene/CG73.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol MHAM Aliases Name multiple hamartoma (Cowden syndrome) Locus OMIM GDB SwissProt LocusLink MHAM Class DISORDER Diseases Hamartoma Syndrome, Multiple; Neoplastic Syndromes, Hereditary Note For germline mutations in MHAM see the gene PTEN ( CG:639 Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : Kwon CH;Zhu X;Zhang J;Knoop LL;Tharp R;Smeyne RJ;Eberhart CG;Burger PC;Baker SJ Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nat Genet 2001 Dec;29(4):404-11. Backman SA;Stambolic V;Suzuki A;Haight J;Elia A;Pretorius J;Tsao MS;Shannon P;Bolon B;Ivy GO;Mak TW Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet 2001 Dec;29(4):396-403. Fackenthal JD;Marsh DJ;Richardson AL;Cummings SA;Eng C;Robinson BG;Olopade OI Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 2001 Mar;38(3):159-64.

66. Cowden Tellmeabout.co.uk uksearch.com results cowden syndrome Sponsored Sites Web Results 1. Genetic Disordersfrom Linkspider UK Health Directory cowden syndrome Background. http://www.tellmeabout.co.uk/directory/c/cowden/readme.htm

67. OB/GYN News: Cowden Syndrome More Common Than Suspected - Linked To Increased Ri You are Here Articles OB/GYN News March 15, 2003 Article. cowden syndromemore common than suspected. (Linked to Increased Risk for Breast CA). http://www.findarticles.com/cf_0/m0CYD/6_38/99376510/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Health Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles OB/GYN News March 15, 2003 Content provided in partnership with Print friendly Tell a friend Find subscription deals Cowden syndrome more common than suspected - Linked to Increased Risk for Breast CA OB/GYN News March 15, 2003 by Bruce Jancin SAN ANTONIO Cowden syndrome is much more common than traditionally thought, Dr. Charis Eng said at a breast cancer symposium sponsored by the San Antonio Cancer Institute. Since the discovery that germline mutations of the tumor suppressor gene PTEN cause Cowden syndrome, it has become evident that some women who present with breast cancer in the absence of obvious features of Cowden syndrome have unsuspected PTEN mutations. The same is likely to hold true for as yet uncertain numbers of men and women presenting with what appears to be isolated thyroid cancer or a broad range of other disorders, according to Dr. Eng, professor of medicine and director of the clinical cancer genetics program at Ohio State University in Columbus. Cowden syndrome is notoriously difficult to diagnosis. Penetrance of PTEN mutations is variable, the spectrum of associated clinical manifestations is large and diverse, and the hallmark skin lesions are subtle and easily missed.

68. Lhermitte-Duclos Disease December 2001 features a mouse model of the human LhermitteDuclos Disease, acomponent of cowden syndrome characterized by hamartomas of the brain and 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

69. ASCO - Enduring CE Materials - Appendix- Genetic Differential Diagnoses By Organ Neurofibromatosis, Type 1 116. cowden syndrome 124128. Werner syndrome 44. Cowdensyndrome/BRR 124, 125, 148-151. Li-Fraumeni syndrome 5, 45, 49, 152-157. http://www.asco.org/ac/1,1003,_12-002519-00_18-0028816-00_19-0028817-00_20-001,0

HOME ABOUT ASCO PRESS CENTER STATE AFFILIATES ... Career Resources Pay Membership Dues, Membership Directory, Drug Database, Update Your Profile username password Remember Me Forgot your password? Create a guest account BECOME A MEMBER Journal of Clinical Oncology The ASCO Foundation People Living With Cancer BECOME A SPONSOR The remember me feature is an automatic login process which creates a cookie on the hard drive of your computer containing your username and password, thereby avoiding the need to enter them upon subsequent visits to asco.org. DO NOT select this option if you share this computer with others since personal or member only information will be accessible by other users. For addition information please review our . Click OK to keep the Remember Me option, or click Cancel to remove it. When you are done, click the LOGIN button to continue with the login Process . Home Continuing Education Enduring CE Materials Appendix- Genetic Differential Diagnoses by Organ System Neoplasms Table of Contents 1. Page 1

70. Diagnosis - Hypertrichosis Table cowden syndrome, Multiple hamartoma syndrome, 158350. Denervation, (Various),List. Multiple hamartoma syndrome, cowden syndrome, 158350. Neoplasm, (Various),List. http://www.keratin.com/ab/ab007.shtml

hypertrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving excess hair growth (hypertrichosis) as a secondary symptom List of disorders involving excess hair growth (hypertrichosis) as a primary symptom Introduction The tables below records disorders known to involve hypertrichosis. The first table lists disorders where hypertrichosis is a primary symptom. The second table lists disorders where hypertrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. The clinical distinction between hypertrichosis and hirsutism is that hypertrichosis involves hair growth on any hair bearing area of skin. The excess hair growth may induced by a wide variety of environmental or genetic factors. Hirsutism is the growth of hair in a secondary sexual characteristic pattern. In women hirsutism involves unwanted excess hair limited to regions including the mustache, beard, chest and/or escutcheon areas. Hirsutism is typically induced by hormonal imbalance, especially androgen excess. This is not necessarily a complete list of disorders involving hypertrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.

71. Www.dictionarybarn.com/COWDEN-SYNDROME.php Proteus Syndrome cowden syndrome (multiple hamartoma syndrome) is a hereditary disorder characterizedby multiple nodules composed of an overgrowth of mature cells and tissues http://www.dictionarybarn.com/COWDEN-SYNDROME.php

72. Familial Cancer Database - Bugs cowden syndrome In the comments section (clinical criteria), it is correctly statedthat follicular thyroid cancer is the predominant type of thyroid cancer http://facd.med.rug.nl/bugs.html

(last updated: July 6, 2001) facd@medgen.azg.nl The following list in alphabetical order contains errors detected in version 1.2. These will be corrected in the next update. Carney Triad : new McKusick no. (604287) not yet listed; the listed non-tumor features are caused by a coding error and will be deleted; parathyroid adenoma should be added to possible tumor features; percentage of unilateral multiple chondromas should read 24 instead of 39. Colorectal Adenoma Carcinoma syndrome (CRAC) : McKusick no. (604940) not yet listed. Cowden syndrome : In the comments section (clinical criteria), it is correctly stated that follicular thyroid cancer is the predominant type of thyroid cancer associated with Cowden syndrome, although the papillary type has been reported as well. However, the displayed tumor spectrum incorrectly only lists the papillary type and searching for follicular thyroid cancer will not find Cowden syndrome. Dubowitz syndrome : searching for salivary gland tumors does not (but should) find this syndrome (parotid gland cancer) Familial Adenomatous Polyposis : Some of the rare tumors listed in the comments field (e.g. pancreatic cancer) are not coded in FAP tumor spectrum, therefore searching for those tumors will not find FAP.

73. GeneticSolutions.com: Resources: Professional Resources: Cancer Genetics cowden syndrome, PTEN (10q23.31), mucocutaneous lesions; breast, thyroid, and/orendometrial cancer; macrocephaly; LhermitteDuclos disease, available, http://www.geneticsolutions.com/db/servlet/PageReq?&TopicID=1992&PageID=25061&Ac

74. Cowdenin Syndrooma JV Bagan, M. Peñarrocha, F. VeraSempere cowden syndrome clinical and pathologicalconsiderations in two new cases. AMN Hanssen, JP Fryns cowden 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.

75. Charis Eng, MD, Ph.D. We then showed that this gene causes a disease called cowden syndrome, whichoften leads to cancer. Which women with cowden syndrome are most at risk? http://www.concertforthecure.org/research/charis_eng.html

Charis Eng Jeffrey Parvin Neal Lue Lewis Chodosh ... Charis Eng , M.D., Ph.D. Concert for the Cure Award Recipient by Roanne Weisman Singapore-born Charis Eng, M.D., Ph.D., a physician/scientist and one of the few formally trained clinical cancer geneticists in the United States, was the first person to receive research funding from Concert for the Cure . "Dr. Eng's research is allowing us to understand genetic mutations that cause cancer in certain families," said Bruce Chabner, M.D., Chief Medical Officer of the Dana- Farber/Partners Cancer Care System. "She has discovered, for example, that a particular gene, called PTEN, is associated with breast cancer." Says Theodora Ross, M.D., Ph.D., Founder and Chair of Concert for the Cure : "Charis Eng is a fine example of the kind of young scientist whose work we want to support through

76. Department Of Human Genetics, School Of Medicine, Emory University : Ask The Gen Mutations in the PTEN gene are seen in cowden syndrome, which is a rare autosomaldominant disorder that is also associated with a number of specific http://server2k.genetics.emory.edu/ask/user/view_response.pl?resp=77&temp=3

77. J Med Genet -- Abstracts: Çelebi Et Al. 36 (5): 360 Phenotypic findings of cowden syndrome and BannayanZonana syndromein a family associated with a single germline mutation in PTEN. http://www.jmedgenet.com/cgi/content/abstract/36/5/360

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Peacocke, M. Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Other Oncology Genetics J Med Genet 360-364 ( May ) Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN a Hui C Tsou a Fei Fei Chen a Hong Zhang a Xiao Li Ping a Mark G Lebwohl b Jeffrey Kezis a Monica Peacocke a a Department of Dermatology, Columbia Presbyterian Hospital, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, New York, New York 10032, USA, b Department of Dermatology, The Mount Sinai School of Medicine, The Mount Sinai Medical Center, One Gustave L Levy Place, Box 1130, New York, New York 10029, USA Correspondence to: Dr Peacocke. Received 27 October 1998 Revised version accepted for publication 14 December 1998 Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although

78. Cowden's Syndrome cowden's syndrome. DESCRIPTION Autosomal dominant hereditary disease malignant transformation. Synonyms multiple hamartoma syndrome. ICD9-CM http://www.5mcc.com/Assets/SUMMARY/TP0234.html

Cowden's syndrome DESCRIPTION: Autosomal dominant hereditary disease. Characteristics - ectodermal neoplasia, microstomia, trichilemmomas of the face, acral verrucous papules. Usual course - chronic; progressive. CAUSES: ectodermal neoplasia mesodermal neoplasia malignant transformation Synonyms: multiple hamartoma syndrome ICD-9-CM: 759.6 other hamartoses, NEC Author(s): Mark R. Dambro, MD

79. Bannayan-Zonana Syndrome Background. This syndrome is very closely related to cowden s syndromewith multiple hamartomas. Individuals with this syndrome frequently http://www.thedoctorsdoctor.com/diseases/bannayan_zonana_syndrome.htm

Background This syndrome is very closely related to Cowden's syndrome with multiple hamartomas. Individuals with this syndrome frequently present with macrocephaly with developmental delay and hypotonia, which are recognized during the first few years of life. Hamartomatous growths such as intestinal polyposis, subcutaneous and visceral lipomas, and vascular malformations are common findings. Skin findings include pigmented macules of the penis. Because of recently discovered genetic findings, there is evidence that Cowden's syndrome and this disease share a common genetic abnormality. Prior to this discovery, there was no increased risk of malignancy in kindreds. However, in light of this new discovery, it has been suggested that there may be an increased risk of malignancy. SYNONYMS Riley-Smith syndrome (1960) Bannayan-Zonana syndrome (1971) Ruvalcaba-Myre syndrome (1980) Bannayan-Riley-Ruvalcaba syndrome DISEASE ASSOCIATIONS CHARACTERIZATION Bannayan-Zonana syndrome associated with lymphangiomyomatous lesions.

80. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Version pour Impression, MALADIE cowden, syndrome de, Synonyme(s)Hamartomes multiples, CIM Q85.8, La maladie de cowden encore appelée http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=201

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