81. Blackwell Synergy - Cookie Absent The dental surgeon should be aware of this entity, its orofacial connotationsand the possible association with cowden s syndrome. http://www.blackwell-synergy.com/links/doi/10.1034/j.1601-0825.2001.00679.x/enha

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82. [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://cumc.columbia.edu/news/journal/journal-o/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."

83. [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://cumc.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.

84. Hamartome Multiple, Syndrome : Sites Et Documents Francophones syndrome de . Synonyme(s) MeSH cowden,maladie ; Maladie cowden ; syndrome hamartome multiple . http://www.chu-rouen.fr/ssf/pathol/hamartomemultiplesyndrome.html

Hamartome multiple, syndrome Menu général CISMeF Définition [MeSH Scope Note ; traduction CISMeF] : Maladie héréditaire caractérisée par des nevi ectodermiques, mésodermiques, et endodermiques multiples et des anomalies néo-plastiques. Des papules du visage et des fibroses de la cavité buccale sont les lésions les plus caractéristiques. D'autres changements se produisent dans la peau, dans la thyroïde, le sein, le système gastro-intestinal, et le système nerveux. Synonyme(s) CISMeF Bannayan-Zonana, syndrome de ; Riley-Smith, syndrome de ; Ruvalcaba-Myhre, syndrome de . Synonyme(s) MeSH 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 : Qualificatifs : diagnostic consultation médicale Bannayan-Zonana, syndrome de

85. COWDEN (syndrome De) Translate this page cowden (syndrome de) Maladie héréditaire autosomique dominante semanifestant par des papules lichénoïdes prédominant autour http://www.uvp5.univ-paris5.fr/UV_MED/MINT/DERM/Ico209.HTM

COWDEN (syndrome de) Maladie héréditaire autosomique dominante se manifestant par : des papules lichénoïdes prédominant autour des oreilles, des orifices nasal et buccal, et sur le pourtour des yeux des papillomes et des lésions verruqueuses aux mêmes endroits des papules évoquant l’acrokératose verruciforme, situées sur la face dorsale des mains et sur les poignets de petites papules translucides sur les paumes et les plantes des papules également sur les gencives, le palais et le pharynx une dysthyroïdie et des kystes mammaires. Cette maladie familiale prédispose au cancer de la thyroïde et au cancer du sein. Retour lettre C

86. Birth Disorder Information Directory - CO-CZ syndrome (Cystic Hygroma Lethal Cleft Palate) Cowchock wapner kurtzsyndrome. cowden( s) Disease/syndrome (Multiple Hamartoma syndrome) http://www.bdid.com/defectco.htm

HOME Co-Cy COACH Syndrome See Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis (COACH) Syndrome Coarctation of (the) Aorta (CoA) List of Sites Coats' Disease (Congenital Retinal Telangiectasia, Exudative Retinitis, Leber Miliary Aneurysm) Coats disease Cobb Syndrome Syndromes associated with AVMs Cocaine Antenatal Infection See Fetal Cocaine Syndrome Related Books Cochin Jewish Disorder (Haim Munk Syndrome, Keratosis Palmoplantaris Periodontopathia) Keratosis palmoplantaris periodontopathia KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS Cockayne Syndrome List of Sites COD-MD Syndrome See Walker Warburg Syndrome CODAS Syndrome (Cerebrooculodentoauriculoskeletal Syndrome) Cerebro oculo dento auriculo skeletal syndrome CODAS SYNDROME Coffin Syndrome (Arthritis Short Stature Deafness) Coffin syndrome Coffin-Lowry Syndrome List of Sites Coffin Siris Syndrome (Fifth Digit Syndrome) Coffin siris syndrome FIFTH DIGIT SYNDROME COFS Syndrome See Cerebrooculofacioskeletal (COFS) Syndrome Cohen Hayden Syndrome (Proteus-Like Syndrome with Mental Retardation and Eye Defects) Cohen hayden syndrome Cohen Lockood Wyborney Syndrome (Blepharophimosis Ptosis Syndactyly Mental Retardation) blepharophimosis ptosis syndactyly mental retardation Cohen Syndrome List of Sites Colavita Kozlowski Syndrome (Short Limb Dwarf, Lethal Colavita Kozlowski Type)

87. Images.MD: View Collection image. Multiple polyps in cowden s syndrome. Click here for more detailabout this image. Multiple polyps in cowden s syndrome. Click http://images.md/users/explore_chapter.asp?ID=GIC0301-12&colID=GIC0301&coltitle=

88. 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

89. 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.

90. 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: Yes 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: Wed Apr 28 2004

91. Cowdens Disease (Multiple Hamartoma Syndrome) - Eurorad - Clinical Case 2839 - R cowden disease (CD), also termed multiple hamartoma syndrome, is an autosomal dominantcondition with variable expression that results from a mutation in the http://www.eurorad.org/case.cfm?uid=2839

92. Article : Radiological Quiz – Head Face Neck ; Author : A Verma ; Co-Author(s) Association to Phakomatosis like Tuberous Sclerosis is spiculated3 but the strongestlink is the one with cowden s syndrome (HamartomaNeoplasia Complex)1,2 http://www.ijri.org/articles/archives/2003-13-1/quiz_113.htm

Quiz A Verma, A Srivastava, DN Varma Ind J Radiol Imag 2003 13:1:113-114 22 year old male patient presented with ataxia, hemi paresis and vertigo. C.S.F examination was normal. No significant contributory anomaly was detected in blood, serum or urine examination. The parents on close interrogation recalled occasional history of falls. Pre and Post Contrast T1W and T2W M.R images of the patient are shown below. What is your diagnosis? Fig.1 Fig.2 Fig.3 Fig.4 Radiological Diagnosis LHERMITTE - DUCLOS DISEASE Lhermitte-Duclos disease (LDD), a term used interchangeably to Dysplastic Cerebellar Gangliocytoma, is a rare disorder characterized by disordered cellular migration occurring during 2-5 months of intrauterine life[1]. A slowly progressive tumor like mass forms and replaces the normal architecture in the Cerebellum.The molecular layer is widened and consists of abnormal Ganglion cells, the Granular cell layer is hypertrophied while the Purkinje cells are absent[2]. These changes can be focal or diffuse. Association to Phakomatosis like Tuberous Sclerosis is spiculated[3] but the strongest link is the one with Cowden's Syndrome (Hamartoma-Neoplasia Complex)[1,2,3,4]. According to some LDD might be a corollary of Cowden's syndrome .For this reason every patient of LDD should be screened for components of Cowden's syndrome like acral keratosis, Mucocutaneous lesions, Thyroid adenoma, Fibrocystic disease, Ovarian cysts, Intestinal polyposis, Arteriovenous malformation and bilateral breast tumors[1,2,5].

93. Women At Risk: Breast Cancer Program At Columbia University Medical Center mastectomy. CUMC researchers say that cowden s syndrome a dermatologicaldisorderis an underrecognized cause of breast cancer. http://www.breastmd.org/war_medical_fall96.html

Shortcuts Directions Events Find the Right Doctor Physician Directory Risk Assessments Search Second Opinion Send for Info Site Map 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. CUMC researchers say that Cowden's syndrome a dermatological disorderis an under-recognized cause of breast cancer. 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 CUMC'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.

94. Final Diagnosis -- Case 263 LDD is associated with cowden s syndrome (CS), a rare autosomal dominant familialcancer syndrome with multiple manifestations including trichilemmomas http://path.upmc.edu/cases/case263/dx.html

Diagnosis and Discussion Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos disease, LDD) 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).

95. Cowdens Syndrome Offers information and message boards for families and patients affected by the disease. http://communities.msn.com/cowdenssyndrome

var nEditorialCatId = 102; MSN Home My MSN Hotmail Shopping ... Money Web Search: var zflag_nid="346"; var zflag_cid="20"; var zflag_sid="4"; var zflag_width="728"; var zflag_height="90"; var zflag_sz="14"; Groups Groups Home My Groups Language ... Help Cowdens Syndrome cowdenssyndrome@groups.msn.com What's New Join Now Welcome Message Board ... Tools This web site has been formed to provide communication between patients and family members of rare genetic diseases Cowdens Syndrome and Bannayan Riley Ruvalcaba Syndrome both caused by mutations of the PTEN gene To join this group you must have Cowdens Syndrome or Bannayan Riley Ruvalcaba syndrome or be a family member to someone with one of these diseases. We also welcome medical professionals. This group has medical advisors which are the premier researchers in both diseases, we very often will get doctor names or answer specific questions. We can also get articles or information for you to give to doctors. Researchers are currently conduting present and future studies in PTEN caused diseases. For details on the studies please read our "Special Notice" section. This group is intended to work along side with your doctor, not to take the place of one. Please confirm all information you hear at this site with your doctor.

96. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?158350

97. Damaged Gene Links Two Poorly Understood Disorders Taken together, the frequency and pattern of mutations suggest that LDD and Cowdensyndrome share a common genetic cause,” Eng says, “and that LDD is a http://researchnews.osu.edu/archive/ptenldd.htm

OSU News Research Archive Search an archive of past research stories. Coverage of OSU Research Reports on national news coverage of university research. Reporting on Cancer A reporter's guide to the disease. Science Communications Staff Who we are and what we do. (Last updated 11/5/03) Previous stories related to Professor Eng's research: "Genetic Alteractions In Stromal Breast Tissue May Make Cancer Detection More Difficult," "Gene Alterations May Predict Response To New Cancer Therapy," DAMAGED GENE LINKS TWO POORLY UNDERSTOOD DISORDERS Charis Eng The study by researchers at suggests that mutations in a gene known as PTEN are linked to Lhermitte-Duclos disease (LDD), a rare disorder that may or may not cause symptoms. American Journal of Human Genetics Cowden syndrome Charis Eng , professor of internal medicine and director of Clinical Cancer Genetics within the Human Cancer Genetics Program at the Comprehensive Cancer Center -James.

98. Gimenei >> Health >> Conditions_and_Diseases >> Genetic_Disorders >> Cowden_Synd Gimenei.com, Search for Scope All Words, Results per page 10.Request Timeout 2, http://www.gimenei.com/directory/top/Health/Conditions_and_Diseases/Genetic_Diso

Search for: Scope: All Words Any Word Phrase Results per page: Request Timeout: Search Depth: Gimenei Health Conditions and Diseases Genetic Disorders Cowden Syndrome

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