61. GeneCard For PTEN MHAM; MMAC1; TEP1; BannayanZonana syndrome; multiple hamartoma (cowden syndrome);phosphatase and tensin homolog (mutated in multiple advanced cancers 1); http://genecards.bcgsc.ca/cgi-bin/carddisp?PTEN

62. Medicalseek - Search Engine For The Healthcare Industry Batten Category BeckwithWiedemann Syndrome Category Coffin Lowry Syndrome CategoryCostello Syndrome Category cowden syndrome Category Craniofrontonasal http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders.html

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Conditions and Diseases Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. drgreene.com/html/21614.html Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. geneclinics.org Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. mindspring.com/~sandysimmons/genetic_di... Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. kumc.edu/gec/support/

63. Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesGenetic Disorderscowden syndrome CowdenSyndrome A CHORUS notecard document about this syndrome. chorus http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Cowden_Synd

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Genetic Disorders Cowden Syndrome Conditions and Diseases:Genetic Disorders:Cowden Syndrome Cowden Syndrome A CHORUS notecard document about this syndrome. chorus.rad.mcw.edu/doc/00100.html Cowdens Syndrome Support Group Offers information and message boards for families and patients affected by the disease. communities.msn.com/cowdenssyndrome Emergency Medicine A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up. emedicine.com/DERM/topic86.htm CATEGORIES ADD A LINK ADVERTISE CONTACT US ... FORUMS

64. Listings Of The World Health Conditions And Diseases Genetic 1 Antitrypsin Deficiency (9) Batten (9) BeckwithWiedemann Syndrome (7) Coffin LowrySyndrome (7) Costello Syndrome (4) cowden syndrome (4) Craniofrontonasal http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/

65. THE LIGHTNING HYPERTEXT OF DISEASE. Packet No. 3 62093 PTEN GENE A tumor suppressor gene Mutated in cowden syndromeGlioblastoma Prostatic adenocarcinoma Breast Cancer (small proportion of cases http://www.pathinfo.com/cgi-bin/lh.cgi?tx=bannayan

66. Defects, Disorders, And Diseases In Medical Genetics syndrome, Breast/ovarian cancer, Breast/other, Carcinoid, Carney syndrome, Chordoma,Cockayne syndrome, Colon cancer (HNPCC), cowden syndrome, Esophagus with http://www.genescene.com/GSCPub/NewsInfo/Disorders.asp

67. Cowdens Syndrome Foundation Website http//www.cowdenssyndrome.com Email Rosalita@msn.com. Conditionscowden syndrome. Year Established 2001 Contact Name Diana Murkowski. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Cowd

68. COWDEN'S SYNDROME cowden'S syndrome. DEFINITION 2. cowden's syndrome; see file on PeutzJegherssyndrome for notes on hamartomatous polyps and malignancy potential. http://www.icondata.com/health/pedbase/files/COWDEN'S.HTM

Pediatric Database (PEDBASE) Discipline: GI Last Updated: 3/23/94 COWDEN'S SYNDROME DEFINITION: A disorder involving the intestines characterized by masses of hamartomatous polyps, mucocutaneous pigmentation, and extra-intestinal manifestations. EPIDEMIOLOGY: incidence: rare age of onset: 1st to 3rd decades risk factors: familial - autosomal dominant chrom.#: ? gene: ? PATHOGENESIS: 1. Background there are two disorders associated with hamartomatous polyps in childhood: 1. Peutz-Jeghers Syndrome 2. Cowden's Syndrome see file on "Peutz-Jeghers Syndrome" for notes on hamartomatous polyps and malignancy potential CLINICAL FEATURES: 1. Gastrointestinal Manifestations 1. Painless Rectal Bleeding +/- bloody diarrhea 2. Complications malignancy potential: carcinoma of the colon 2. Mucocutaneous Pigmentation acral keratosis papillomas or fibromas of oral mucosa, tongue, and gingiva (cobblestone appearance) tricholemoma of the face others: angiomas, lipomas, vitiligo of skin 3. Extraintestinal Manifestations 1. Thyroid

69. [P&S Journal:Wi:97] Cowden's Syndrome: Masked Menace P S Journal Winter 1997, Vol.17, No.1 cowden's syndrome MaskedMenace. By Devera Pine. Illustration by Susan Gilbert. W hen Mary http://cpmcnet.columbia.edu/news/journal/archives/jour_v17n1_0011.html

Cowden's Syndrome: Masked Menace By Devera Pine Illustration by Susan Gilbert W hen Mary Smith (not her real name) was 16 years old, she found a lump in her breast. "My mother was terrifiedshe thought it was cancer," says Ms. Smith, now 53. "But in those days, no one talked about cancer. So even though I was scared that I had to have surgery, I didn't know the overwhelming possibilities." Since then, she has had a seemingly endless series of cancer scares and actual bouts with cancer: four biopsies for suspicious breast lumps, a lumpectomy followed by a mastectomy, a hysterectomy, partial nephrectomy for what turned out to be a benign mass, and, in 1996, another mastectomy. Mary Smith does not have the BRCA1 or BRCA2 breast cancer genes. Instead, she suffers from a little-known disease called Cowden's syndrome (CS; also known as multiple hamartoma syndrome)an autosomal dominant disorder characterized by skin lesions and a high risk of both breast and thyroid cancer. The medical literature describes CS as a rare disease associated with marked disfigurement. But according to Dr. Monica Peacocke, associate professor of medicine and of dermatology, CS is fairly common, not generally disfiguring, easily missed by many doctors, and an under-recognized cause of many cases of familial breast cancer. "The genetic basis of many types of familial breast cancer is not yet known," says Dr. Peacocke, who is collecting the genetic pedigrees of people like Mary Smith. "CS is masquerading as sporadic breast cancer."

70. [Biomedical Frontiers:Fall:96] The Cowden's-Breast Cancer Link CPMC researchers say that cowden's syndrome a dermatological disorderisan underrecognized cause of breast cancer. Breast pathology http://cpmcnet.columbia.edu/news/frontiers/archives/biomed_v4n1_0002.html

Biomedical Frontiers: Fall 1996, Vol.4, No.1 The Cowden's-Breast Cancer Link When Mary Smith (not her real name) was 16 years old, she found a lump in her breast. "My mother was terrifiedshe thought it was cancer," says Smith, now 53. "But in those days, no one talked about cancer. So even though I was scared that I had to have surgery, I didn't know the overwhelming possibilities." Since that surgery, Smith has had a seemingly endless series of cancer scares and actual bouts with cancer: four biopsies for suspicious breast lumps, a lumpectomy followed by a mastectomy, a hysterectomy, partial nephrectomy for what turned out to be a benign mass, and now, in 1996, another mastectomy. CPMC researchers say that Cowden's syndrome a dermatological disorderis an under-recognized cause of breast cancer. Breast pathology is unique in Cowden's Syndrome. Smith does not have the BRCA1 or BRCA2 breast cancer genes. Instead, she suffers from a little-known disease called Cowden's syndrome (CS; also known as multiple hamartoma syndrome)an autosomal dominant disorder characterized by various skin lesions and a high risk of both breast and thyroid cancer. The medical literature describes CS as a rare disease associated with marked disfigurement. But according to CPMC's Dr. Monica Peacockewho is collecting the genetic pedigrees of people like Mary SmithCS is in fact fairly common, not generally disfiguring, easily missed by many doctors, and an under-recognized cause of many cases of familial breast cancer.

71. 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.

72. Service Page - Pathologie Information Translate this page MALADIE cowden, syndrome de, Synonyme(s) Hamartomes multiples, CIMQ85.8, La maladie de cowden encore appelée syndrome des hamartomes http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=201

73. Cowden's Syndrome cowden's syndrome. BASICS DESCRIPTION Autosomal dominant hereditarydisease. Characteristics ectodermal neoplasia, microstomia http://www.5mcc.com/Assets/SUMMARY/0234.html

74. Genetic Mutations Can Increase Breast Cancer. Columbia University Record, Novemb Peacocke and colleagues made their discovery while searching for the geneticbasis of cowden's syndrome, a littleknown dermatological disorder. http://www.columbia.edu/cu/record/23/09/27.html

Where to Find It The Web is available on the and Index pages of ColumbiaWeb VOL. 23, NO. 9 NOVEMBER 14, 1997 Genetic Mutations Can Increase Breast Cancer The findings identify the third breast cancer susceptibility gene; the other two such genes are BRCA1 and BRCA2. The discovery could lead to better tests for early detection and more effective treatments. The study, published in the Nov. 1 issue of the American Journal of Human Genetics, was a collaboration between Columbia scientist Monica Peacocke and Myriad Genetics in Salt Lake City, Utah. The P-TEN gene, also called MMAC1, is located on chromosome 10. The role of this chromosome in the development of various sporadic cancers has been investigated for nearly a decade. Peacocke and colleagues made their discovery while searching for the genetic basis of Cowden's syndrome, a little-known dermatological disorder. "Cowden's syndrome is an under-recognized and under-diagnosed disorder. The identification of this gene will allow us to develop screening tests so that these women can follow early detection and prevention strategies and get prompt treatment of breast cancer," says Peacocke, associate professor of medicine and dermatology at Columbia-Presbyterian Medical Center. Cowden's syndrome may also increase a woman's risk of endometrial cancer. Therefore, women with the genetic mutation who also have breast cancer might not be candidates for treatment with tamoxifen, which itself can increase the risk of endometrial cancer.

75. International Society For Pediatric Neurosurgery LhermitteDuclos disease is a clinical manifestation of cowden's syndrome. N. Vantomme,F. Van Calenbergh, J. Goffin, R. Sciot, P. Demaerel, C. Plets (Leuven). http://www.ispn.org/Meetings/Aalborg/Poster05.htm

The International Society for Pediatric Neurosurgery Future Meetings Past Meetings Membership History ... Home 29th Annual Meeting Poster Abstracts Lhermitte-Duclos disease is a clinical manifestation of Cowden's syndrome N. Vantomme, F. Van Calenbergh, J. Goffin, R. Sciot, P. Demaerel, C. Plets (Leuven) Return to Posters List

76. FBR Genetics Quarterly Summer 2000 Volume 1, Patient Issue Not only did she remember me, but she also remembered cowden's syndrome (therare genetic disease I have). I can't tell you how good that made me feel. http://www.fbr.org/publications/geneticsquarterly/gq_summer2000v1.html

Funded by the Foundation for Blood Research, Southern Maine Genetics Services, (State of Maine Grant BH-00-05) and the March of Dimes Volume 1, Patient Issue Summer 2000 Sandy's Story: A Life Touched by Genetics I hadn't spoken with Dale, my genetic counselor at Southern Maine Genetics Services (SMGS) in Scarborough, in about seven years, and I suddenly had the impulse to call her. Not only did she remember me, but she also remembered "Cowden's Syndrome" (the rare genetic disease I have). I can't tell you how good that made me feel. I had no idea what a Genetic Counselor was...Dale was to start me on a journey that is ongoing to this day. Southern Maine Genetics Services (at the Foundation for Blood Research) had been recommended to me by my dermatologist. I had been living with the diagnosis of "Accro-keratosis verruciformis of Hopf" for about ten years. However, when growths began to appear internally, the diagnosis was changed to Cowden's syndrome. Cowden's syndrome was something new to me, and the only information I had about it was from an awful-looking picture in a big, green book. So, when I first walked into Dale's office I was scared, confused and sure that, in time, I would look like the picture in the big green book. Some feel initial impressions are very important. Dale had a picture of her daughter on a horse in her office; this was an immediate ground breaker for me, as I had also ridden in my youth. I had no idea what a genetic counselor was. My dermatologist recommended I consider a genetic evaluation, so I made an appointment. Dale was to start me on a journey that is ongoing to this day. After our initial conversation, a doctor joined us and Dale explained some of my situation to him. He made some telephone calls to the Dana Farber Cancer Institute in Boston and my journey had begun. A day or so later, I spoke with Dr. Charis Eng, who was then a Fellow at Dana Farber. I have been her patient ever since. Dr. Eng is, at this writing, the only doctor in the United States who is researching Cowden's Syndrome.

77. Diagnosis And Discussion -- Case 60 LDD is associated with cowden's syndrome (CS), a rare autosomal dominant familialcancer syndrome with multiple manifestations including trichilemmomas http://path.upmc.edu/divisions/neuropath/bpath/cases/case60/dx.html

Brain Pathology Case of the Month - March 2001 DIAGNOSIS: DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM (LHERMITTE-DUCLOS DISEASE, LDD) DISCUSSION: Lhermitte-Duclos disease was first described in 1920 and is quite rare with fewer than 100 cases having been previously reported (9). This entity has also been described in the literature under the names of Purkinjeoma, granular cell hypertrophy of the cerebellum, hamartoma of the cerebellum, dysplastic gangliocytoma, ganglioneuroma, and gangliomatosis of the cerebellum. Patients tend to be young adults and may present with signs of cerebellar dysfunction or increased intracranial pressure secondary to obstructive hydrocephalus, yet cerebellar signs are minimal or absent in up to one half of those with the lesion (8). The characteristic MR pattern is a mass lesion within the cerebellar hemisphere exhibiting a striated pattern that is hypointense on T1-weighted images, hyperintense on T2-weighted images, and is non-enhancing with contrast (5,7). Histologically, the hypointense T1 and hyperintense T2 densities correspond to the inner portion of the diseased folia consisting of the deep molecular layer, the internal granular layer, and the white matter (5). The outer molecular layer of the folia remains isointense on MR studies. Although some computed tomographic (CT) scans demonstrate the hypointense-isointense banding pattern, inherent posterior fossa artifact makes MR the imaging modality of choice (5). REFERENCES Albrecht, S, Haber RM, Goodman JC, Duvic M. (1992) Cowden syndrome and Lhermitte-Duclos disease. Cancer 70:869-876

78. Hamartome Multiple, Syndrome : Sites Et Documents Francophones cowden ; syndrome hamartome multiple . http://www.chu-rouen.fr/ssf/pathol/hamartomemultiplesyndrome.html

Hamartome Multiple, Syndrome Menu général CISMeF Synonyme(s) cowden, maladie ; maladie cowden ; syndrome hamartome multiple Arborescence(s) hamartome multiple, syndrome hamartoma multiple, syndrome maladies et malformations congénitales, héréditaires et néonatales tumeurs Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Cowden, syndrome de - synonyme(s) et inclusion(s) : Hamartomes multiples [Par Dr Longy M, Dr Lasset C. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 1999 ; visité le : 12/10/2000]. mots clés : * hamartome multiple, syndrome hamartome multiple, syndrome diagnostic type(s) : guide ressources structure recherche texte association patients 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

79. HONselect - Hamartoma Syndrome, Multiple cowden Disease, cowden's. Français HAMARTOME MULTIPLE, syndrome,- cowden, MALADIE - MALADIE cowden - syndrome HAMARTOME MULTIPLE. http://www.hon.ch/HONselect/RareDiseases/C04.445.435.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Hamartoma Syndrome, Multiple - Cowden's Disease - Multiple Hamartoma Syndrome - Cowden Disease - Cowdens Disease - Disease, Cowden - Disease, Cowden's Français: HAMARTOME MULTIPLE, SYNDROME - COWDEN, MALADIE - MALADIE COWDEN - SYNDROME HAMARTOME MULTIPLE Deutsch: Cowden-Syndrom - Cowden-Krankheit - Multiple-Hamartome-Syndrom Español: SINDROME DE HAMARTOMA MULTIPLE - ENFERMEDAD DE COWDEN Português: SINDROME DO HAMARTOMA MULTIPLO - DOENCA DE COWDEN HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C04.445.435.html Last modified: Thu Jul 25 2002

80. Hamartoma Syndrome, Multiple Help Disclaimer Hamartoma syndrome, Multiple. Image URL cowden'ssyndrome, Image URL cowden's syndrome, Image URL cowden's syndrome, http://www.brisbio.ac.uk/ROADS/subject-listing/hamartomasyndromemultiple.html

A collection of medical, dental and veterinary images for use in teaching. Home About the Archive FAQ Terms and Conditions ... Help Hamartoma Syndrome, Multiple Cowden's syndrome Cowden's syndrome Cowden's syndrome

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