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Cowden Syndrome:     more detail

Cowden syndrome more common than suspected. (Genetic Cancer Syndrome).: An article from: Skin & Allergy News by Bruce Jancin, 2003-03-01 Cowden Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20 Cowden syndrome more common than suspected: linked to breast cancer risk. (Clinical Rounds).: An article from: Internal Medicine News by Bruce Jancin, 2003-04-01 Genetic cancer syndrome more common than suspected. (Cowden Syndrome).: An article from: Family Practice News by Bruce Jancin, 2003-03-01

lists with details

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

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

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

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
    
    Extractions: 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
    
    Extractions: 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 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
    
    Extractions: 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)

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
    
    Extractions: VOL. 23, NO. 9 NOVEMBER 14, 1997 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

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
    
    Extractions: 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
    
    Extractions: 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

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

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

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