81. Cowden's Syndrome cowden s syndrome mesodermal neoplasia; malignant transformation. Synonyms.multiple hamartoma syndrome. ICD9-CM 759.6 other hamartoses, NEC 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

82. Cowden's Syndrome cowden s syndrome is a rare autosomal dominant syndrome that is characterized by cowden s syndrome is an uncommon, although likely underreported, http://dermatology.cdlib.org/103/NYU/case_presentations/102103n3.html

DOJ Contents Cowden's syndrome Olympia Kovich MD, and David Cohen MD MPH Dermatology Online Journal 10 (3): 3 From the Ronald O. Perelman Department of Dermatology, New York University Abstract A 59-year-old woman initially presented with facial papules, which were consistent with trichilemmomas on histopathologic examination. Her course was complicated by breast, endometrial, and renal-cell carcinomas, as well as a multinodular goiter that necessitated a thyroidectomy. Cowden's syndrome is a rare autosomal dominant syndrome that is characterized by hamartomas of ectodermal, mesodermal, and endodermal origin as well as an increased risk of breast, thyroid, and endometrial neoplasias. Medical management includes screening for breast cancer and thyroid abnormalities, and performing other age-specific examinations. Treatment of facial papules includes topical 5-fluorouracil, isotretinoin, curettage, laser ablation, or surgical excision. Clinical synopsis History. The patient received treatment with liquid nitrogen for the facial papules. Most recently she was referred for possible laser treatment. Surgical removal of oral lesions has been performed periodically. Physical Examination.

83. Nature Publishing Group - 404 Page Modern Pathology features diagnostic anatomic pathology and contains originalscientific papers, selected short courses, appropriate special lectures, http://www.nature.com/modpathol/journal/vaop/ncurrent/full/3800448a.html

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84. [P&S Journal:Wi:97] Cowden's Syndrome: Masked Menace P S Journal. P S Journal Winter 1997, Vol.17, No.1 cowden s syndrome MaskedMenace. By Devera Pine. Illustration by Susan Gilbert 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."

85. Breastlink - Optimal Care Articles - Hereditary Breast Cancer Syndromes cowden s syndrome is characterized by the finding of breast cancer, Lifetime estimates of breast cancer in women with cowden s syndrome range from 25% http://www.breastlink.com/optimal_care/article14.aspx

support discussion forum online chat keep updated careers print share save home Print this page. Tell a friend about Breastlink's web site. Add this page to your list of favorites. Go to the Breastlink home page. Job vacancies at Breastlink. Breast Cancer: Suspecting or just diagnosed? Optimal Breast Cancer Care Consider your options Life after Breast Cancer treatment Survivor Stories About Us Dr John Link The Team 2nd Opinion ... Genetic Risk Assessment sideNavID='subNav5'; Risk Factors for Breast Cancer The Process of Genetic Cancer Risk Assessment Hereditary Breast Cancer Syndromes Prediction of the Likelihood of a BRCA1 or BRCA2 Mutation ... Bone Health for the Woman with Breast Cancer Hereditary Breast Cancer Syndromes Hereditary Breast-Ovarian Cancer Syndrome BRCA1 and BRCA2 are large genes that are responsible for the majority of hereditary breast and ovarian cancer. These two genes are present in all individuals and function as tumor suppressor genes. When a mutation is present in one of these genes individuals are at a significantly higher risk of breast cancer (estimated to be) over a woman's lifetime, as well as a significantly higher risk of ovarian cancer (Men carrying a BRCA1 and BRCA2 mutations are at modestly increased risk of prostate cancer. Nearly 2,000 distinct mutations and sequence variations have been described in BRCA1 and BRCA2. There is a high frequency of specific germline mutations, 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 in individuals of Ashkenazi Jewish descent. Up to 30% of breast cancer cases in women from this ethnic group diagnosed with breast cancer under the age of 40, 40% of breast cancer families and 60% of breast/ovarian cancer families carry one of these germline mutations. A high frequency of specific BRCA1 mutations has been found in other ethnic groups. One such example is the 999del15 BRCA2 mutation in Iceland.

86. Cancer Board: HealthBoards - Cowden's Disorder A.k.a. Cowden's Syndrome Cancer board cowden s Disorder aka cowden s syndrome. http://www.healthboards.com/boards/archive/index.php/t-24032.html

HealthBoards Health Issues Cancer PDA View Full Version : Cowden's Disorder a.k.a. Cowden's Syndrome 04-09-2002, 01:53 AM I am researching Cowden's Disorder(or Syndrome) on behalf of my 79 year old mother, a breast cancer survivorten years agowho had this disorder appear a few years AFTER her double mastectomy (that is, even though cowden's disorder is considered by at least some researchers as a PREcancerous indicator for breast cancer). Statistically, as best I understand, C.D. is not a very common disease. (Important note: I'm NOT a MD or other medical professional.) I am seeking any bona fide medical information which might lead to effective treatment. For the record, using the search engine Google, I have found that Dr. Monica Peacocke at Columbia University is a prominent researcher in this medical research area. See related link: http://cpmcnet.columbia.edu/dept/derm/sdrc/fac.html And: http://www.columbia.edu/cu/record/23/09/27.html And: http://cpmcnet.columbia.edu/dept/derm/sdrc/fac.html [This message has been edited by moderator2 (edited 04-09-2002).]

87. MyDNA.com - Genetic Syndromes One of the more than 50 cancerrelated genodermatoses, cowden s syndrome is Lifetime estimates for breast cancer among women with cowden s syndrome http://www.mydna.com/health/breast_cancer/genetics/genetic_syndromes.html

@import url(http://www.mydna.com/plone.css); @import url(http://www.mydna.com/ploneCustom.css); myDNA.com Search Yellow Pages News ... Diets Search For In Entire Site Articles News Images Advanced Search Home Health Center ... Genetics Genetic Syndromes Page Tools Print This Page E-Mail This Page Add to Favorites Genetics Genetics Envirogenomics Nutrigenomics Pharmacogenomics Health Allergy Asthma Brain Tumors Breast Cancer News Ask Dr. DNA Fund Mammograms Overview Breast Self-Exam Diagnosis Genetics Treatments Prevention Library Ethnicity Weight Diagnostic Tests Medications Tools Web Directory Medical Board Cervical Cancer

88. The American Journal Of Dermatopathology - Abstract: Volume 20(4) August 1998 P associated with cowden s syndrome shows no significant gender predilection.Sclerotic fibromas, once thought to be specific for cowden s syndrome, http://www.amjdermatopathology.com/pt/re/ajderm/abstract.00000372-199808000-0001

LWWOnline LOGIN eALERTS REGISTER ... Archive Cowden's Syndrome, Lhermitte-Duclos... ARTICLE LINKS: Fulltext Permissions Cowden's Syndrome, Lhermitte-Duclos Disease, and Sclerotic Fibroma. American Journal of Dermatopathology. 20(4):413-416, August 1998. Chapman, M. Shane M.D.; Perry, Ann E. M.D.; Baughman, Richard D. M.D. Abstract: The authors report a case of Lhermitte-Duclos disease, or dysplastic cerebellar gangliocytoma, in which a cutaneous sclerotic fibroma was found incidentally during the second resection of a recurrent cerebellar hamartoma. The association of Lhermitte-Duclos disease and sclerotic fibroma with Cowden's syndrome led to a dermatologic examination and confirmation of the diagnosis of Cowden's syndrome. The combination of both Lhermitte-Duclos disease and sclerotic fibroma with Cowden's syndrome has not previously been reported. A review of the 15 cases of Lhermitte-Duclos disease associated with Cowden's syndrome shows no significant gender predilection. Sclerotic fibromas, once thought to be specific for Cowden's syndrome, also are reviewed. (C) Lippincott-Raven Publishers Subscribe to RSS feed utrdc-pt01 Release 4.0

89. The American Journal Of Dermatopathology - UserLogin Sclerotic fibromas, once thought to be specific for cowden s syndrome, Patients with cowden s syndrome (CS) have an increased potential to develop both http://www.amjdermatopathology.com/pt/re/ajderm/fulltext.00000372-199808000-0001

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90. Cowden's Disease. DermNet NZ cowden s disease is also known as ‘cowden s syndrome’ and ‘multiple hamartomasyndrome’. What is cowden s disease? cowden s syndrome is a rare inherited http://www.dermnet.org.nz/systemic/cowden.html

@import url("/common/screen.css"); DermNet NZ Ad Authoritative facts about the skin from the New Zealand Dermatological Society Incorporated Home For patients For doctors ... Site map Search: Home Skin signs of systemic disease Cowden's disease What is Cowden's disease? Cowden's disease is a rare inherited condition characterised by: Cutaneous features Benign lesions of the skin and mucosa, known as hamartomas (benign tumours made up of a mixture of mature cells normally found in that tissue). At least one of the four types of skin lesions are present in nearly all cases. Other skin lesions occurring less frequently include lipomas , neuromas and haemangiomas Non-cutaneous features Abnormalities of the thyroid are present in about 60% of patients. These may be harmless growths or cancerous. Fibrocystic disease resulting in benign lumps in the breasts is present in about 75% of women. Breast cancer occurs in 20-36% of patients. Gastrointestinal polyps and other abnormalities are present in about 72% of patients. Genitourinary tract involvement may include ovarian cysts and cancers.

91. Arch Dermatol -- Abstract: Clinicopathologic Findings In The Bannayan-Riley-Ruva Carney Complex, PeutzJeghers syndrome, cowden Disease, and Bannayan-Zonanasyndrome Share Cutaneous and Endocrine Manifestations, But Not Genetic Loci http://archderm.ama-assn.org/cgi/content/abstract/132/10/1214

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 132 No. 10, October 1996 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Fargnoli MC Bolognia JL Articles that cite this article Contact me when this article is cited Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome M. C. Fargnoli, S. J. Orlow, J. Semel-Concepcion and J. L. Bolognia Department of Dermatology, Yale University School of Medicine, New Haven, Conn, USA. BACKGROUND: The term Bannayan-Riley-Ruvalcaba syndrome has been proposed to reflect the clinical overlap of 3 conditions previously described as separate entities, each inherited in an autosomal dominant fashion. They are the Riley-Smith, Bannayan-Zonana, and Ruvalcaba-Myhre-Smith syndromes.

92. Portal Toolkit Invalid Site URL LhermitteDuclos disease associated with cowden s syndrome Case report andliterature cowden s syndrome (CS) is a rare autosomal-dominant disorder http://ppv.ovid.com/pt/re/ausr/fulltext.00000938-200108000-00016.htm

Sorry, the URL specified, http://ppv.ovid.com:80/pt/re/ausr/fulltext.00000938-200108000-00016.htm , is invalid. To go to site for "OvidPPV" please click here http://ppv.ovid.com To go to site for "Australasian Radiology" please click here http://www.lwwonline.com To go to the LWW Online site, please click here http://www.lwwonline.com Thank you

93. FBR Genetics Quarterly Summer 2000 Volume 1, Patient Issue 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 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.

94. Syndrome Des Hamartomes Multiples - Maladie De Cowden HONsélect Translate this page syndrome des hamartomes multiples - articles, sites web, images, http://www.hon.ch/HONselect/RareDiseases/FR/C04.445.435.html

InitBulle("navy","#F8F8F8","#000066",1); sites HONcode sites Web HONsélect News ... Images Chercher HONsélect Anglais Français Allemand Espagnol Portugais le mot la partie du mot dans les termes MeSH Information pour "Syndrome des hamartomes multiples": Hiérarchie médicale et definition Articles médicaux Ressources du Web Images médicales Nouvelles médicales Conférences médicales Hiérarchie Anglais Français Allemand Espagnol Portugais Syndrome des hamartomes multiples Définition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Papules of the face and oral mucosa are the most characteristic lesion. Other changes occur in the skin, in the thyroid, the breast, the gastrointestinal system, and the nervous system. Synonyme(s): Maladie de Cowden / Syndrome de Cowden / (NLM)® de l'INSERM (version française) Parcourir Chercher HONsélect Ressources du Web pour "Syndrome des hamartomes multiples" Anglais Français Allemand = Site with HON description - = Site with a robot description info: entrez dans le site: (cliquez ci-dessous) domaine du site: HONcode - Syndrome des hamartomes multiples : sites et documents francophones www.chu-rouen.fr

95. Cowden, Syndrome De Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/cowden.html

Accès à la base de données Orphanet Cowden, syndrome de Accès direct aux détails Résumé PTEN (pour Phosphatase and TENsin homolog deleted on chromosome TEN). Il s'agit d'un gène suppresseur de tumeur codant pour une phosphatase dont les altérations à l'état somatique ont été retrouvées de manière significative au niveau de tumeurs cérébrales, les glioblastomes et au niveau de cancers de l'endomètre. Curieusement, ces types de tumeurs ne s'observent pas avec une fréquence particulière chez les patients atteints de maladie de Cowden. La prévalence de la maladie de Cowden serait de 1/200 000 à 250 000 dans la population hollandaise. La prise en charge des patients dépend essentiellement des différentes néoplasies, bénignes et malignes, qui accompagnent l'évolution de la maladie. Celles-ci nécessitent le plus souvent une prise en charge chirurgicale. *Auteur : Dr M. Longy (octobre 2002)*. Texte(s) long(s) http://www.orpha.net/data/patho/FR/fr-cowden.html Signes de la maladie HYPERKERATOSE PALMOPLANTAIRE MACULES / PAPULES NEOPLASIE / CANCER TRANSMISSION AUTOSOMIQUE DOMINANTE ADENOMES SEBACES HEMANGIOMES TUBEREUX / CAVERNEUX HYPERPILOSITE LOCALISEE LANGUE SCROTALE/FISSUREE LANGUE,GENCIVES:TUMEFACTIONS/HAMARTOMES

96. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page La maladie de cowden encore appelée syndrome des hamartomes est une affectionhéréditaire qui se caractérise par le développement de néoformations, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=201

97. Women At Risk: Breast Cancer Program At Columbia University Medical Center CUMC researchers say that cowden s syndrome a dermatological disorderis anunderrecognized cause of breast cancer. http://www.breastmd.org/war_medical_fall96.html

Shortcuts Directions Events Find the Right Doctor 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.

98. Images.MD: View Collection View Full Size, Cutaneous manifestations of gastrointestinal tract polyposissyndromes View Full Size, Multiple polyps in cowden s syndrome http://www.images.md/users/explore_chapter.asp?ID=GIC0301-12&colID=GIC0301&colti

99. Blackwell Synergy - Cookie Absent Lhermitte Duclos disease associated with cowden s syndrome Case report andliterature cowden s syndrome (CS) is a rare autosomal-dominant disorder http://www.blackwell-synergy.com/doi/abs/10.1046/j.1440-1673.2001.00933.x

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100. Final Diagnosis -- Case 263 LDD is associated with cowden s syndrome (CS), a rare autosomal dominant familial (1999) LhermitteDuclos disease as a component of cowden s syndrome. 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).

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