AtCancer: Cancer/Oncology Search Engine Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2a - Multiple EndocrineNeoplasia Type 2b - multiple hamartoma syndrome - Multiple Hereditary http://atcancer.com/cancer/index2M.php3
NYU SoM - Dept. Of Dermatology Diagnosis multiple hamartoma syndrome (Cowden's disease). Commentmultiple hamartoma syndrome is an autosomal dominant condition. http://www.med.nyu.edu/Derm/conf/022001-3.html
ORPHANET® : Cowden Syndrome Translate this page ORPHANET. ORPHANET database access. Cowden syndrome. Direct accessto details Alias multiple hamartoma syndrome. Home Page. http://www.orpha.net/static/GB/cowden.html
T Cowden's syndrome (multiple hamartoma syndrome) is an autosomal dominant diseasecharacterized by multiple cutaneous hamartoma (trichilemmoma, fibroma http://www.geocities.com/sampyroy2000/T.html
Extractions: Histologically trichilemmoma is a symmetrical tumour with well circumscribed margin resting on PAS positive thickened basement membrane.The tumour is composed of glycogenated clear epithelial cells with peripheral palisading in deeper parts. These cells are PAS diastase positive. Some lesions contain eosinophilic "intermediate cells" (some times known as follicular poroma).The architectural patterns ranges from follicle like,vertically orientated , bulbous, lobular, verrucous or acrospiroma like. In many cases there is broad connection with overlying surface epithelium .Some trichilemmomas display connection with individual hair follicle. This is a variant of trichilemmoma characterized by extensive stromal component together with complex strands of clear epithelial cell in the periphery. Stroma is also present in the centre of epithelial nodules. Eosinophilic, amorphous alcian blue and PAS diastase positive material may be present (basement membrane material). CD34 positive cells are identified in trichilemmoma. The stroma contains vimentin positive cells.
Extractions: Cutaneous Markers of Internal Malignancy http://www.medicad.com I. Direct tumour spread: The skin is a relatively uncommon site for metastatic deposits compared to organs such as liver, lung and bone. The most common sources of cutaneous metastases are lung, breast and colon. Renal and thyroid skin deposits may be vascular and are occasionally misdiagnosed as benign haemangiomas. Direct invasion of the skin: The most frequent cause is carcinoma of the breast either as skin ulceration, Paget's disease, carcinoma erysipeloides, or carcinoma en cuirasse. Squamous-cell carcinoma of the oral cavity also may ulcerate onto the face. Paget's disease of the breast is an epidermal manifestation of an underlying ductal adenocarcinoma. Extramammary Paget's, e.g. in anogenital area may be a marker of underlying neoplasia such as adenocarcinoma of the rectum. Specific cutaneous infiltrations may occur with lymphoma and leukaemia II. The genetic group:
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Cowden Syndrome A CHORUS notecard document about this syndrome.Category Health Conditions and Diseases Cowden SyndromeCowden syndrome. multiple hamartoma syndrome GItract hamartomas (incl.stomach and colon). breast Ca; thyroid Ca. circumoral papillomatosis; http://chorus.rad.mcw.edu/doc/00100.html
M Multiple Chemical Sensitivity; @ multiple hamartoma syndrome; @ MultipleMyeloma; @ Multiple Personality Disorder; @ Multiple Sclerosis; http://www.ad.com/Health/Conditions_and_Diseases/M/
Birth Disorder Information Directory - M Multiple Epiphyseal Dysplasia See Beighton Goldberg Hoff Syndrome.multiple hamartoma syndrome See Cowden Syndrome. Multiple Hereditary http://www.bdid.com/defectm.htm
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GeneCard For PTEN THE PREDOMINANT PHENOTYPE FOR CS IS multiple hamartoma syndrome, IN MANY ORGAN SYSTEMSINCLUDING THE BREAST (70% OF CS PATIENTS), THYROID (4060%), SKIN, CNS http://www.rzpd.de/cgi-bin/cards/carddisp?PTEN
USCAP - 91st Annual Meeting The histologic appearance of colorectal polyps from patients with Cowden's disease(multiple hamartoma syndrome) appears identical to mucosal prolapse syndrome http://www.uscap.org/91st/case4.htm
Extractions: The solitary rectal ulcer syndrome, localized colitis cystica profunda, and inflammatory cloacogenic polyp are closely allied conditions that have been linked to bowel prolapse. Affected patients often demonstrate abnormal function of the anal and pelvic floor musculature during defecation that leads to rectal mucosal prolapse or even intussusception. The resulting trauma is thought to cause the clinical symptoms and the pathologic changes. The term solitary rectal ulcer syndrome is quite a misnomer because the ulcers are often multiple, there is preulcer polypoid phase, and similar lesions occur in the anal canal and sigmoid colon. Additionally, colitis cystica profunda and inflammatory cloacogenic polyp are also misnomers. Since all three conditions share a common histologic appearance, clinical presentation, clinical course, and pathogenesis, I prefer to consider them together under the heading mucosal prolapse syndromes. Clinical Presentation
1st Diagnosis Cowdens syndrome, also known as the multiple hamartoma syndrome, consists ofmultiple tricholemmomas on the face and oral mucosa associated with breast http://erl.pathology.iupui.edu/cases/dermcases/diag1.cfm?case=17
Nature Genetics Cowden disease (CD) (MIM 158350), or multiple hamartoma syndrome, is a rare autosomaldominant familial cancer syndrome with a high risk of breast cancer. http://www.nature.com/ng/wilma/v13n1.867941190.html
Extractions: M.R. Nelen , G.W. Padberg , E.A.J. Peeters , A.Y. Lin , B. van den Helm , R.R. Frants , V. Coulon , A.M. Goldstein , M.M.M van Reen , D.F. Easton , R.A. Eeles , S. Hodgson , J.J. Mulvihill , V.A. Murday , M.A. Tucker , E.C.M. Mariman , T.M. Starink , B.A.J. Ponder , H.H. Ropers , H. Kremer , M. Longy Cowden disease (CD) (MIM 158350), or multiple hamartoma syndrome, is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. Its clinical features include a wide array of abnormalities but the main characteristics are hamartomas of the skin, breast, thyroid, oral mucosa and intestinal epithelium. The pathognomonic hamartomatous features of CD include multiple smooth facial papules, acral keratosis and multiple oral papillomas . The pathological hallmark of the facial papules are multiple trichilemmomas . Expression of the disease is variable and penetrance of the dermatological lesions is assumed to be virtually complete by the age of twenty . Central nervous system manifestations of CD were emphasized only recently and include megalencephaly, epilepsy and dysplastic gangliocytomas of the cerebellum (Lhermitte-Duclos disease, LDD)
Browsing Health Conditions And Diseases M Category Morvan Disease Mouth Cancer Moyamoya Disease, MPS III MRKH Mucopolysaccharidosis3 Multiple Chemical Sensitivity multiple hamartoma syndrome Multiple Myeloma http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/M/
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[P&S Journal:Wi:97] Cowden's Syndrome: Masked Menace Instead, she suffers from a littleknown disease called Cowden's syndrome (CS;also known as multiple hamartoma syndrome)an autosomal dominant disorder 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."