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         Multiple Hamartoma Syndrome:     more detail

21. AtCancer: Cancer/Oncology Search Engine
Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2a - Multiple EndocrineNeoplasia Type 2b - multiple hamartoma syndrome - Multiple Hereditary
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22. 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

23. 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
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Cowden syndrome
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24. 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
TRICHILEMMOMA Dr. Sampurna Roy M.D. HOME
Trichilemmoma arises from the outer sheath of the hair follicle (mainly of the bulb region).
Clinically the tumour presents as solitary or multiple papules in adults . These
are dome shaped, flesh coloured lesions usually less than 5mm in diameter.
Common sites are face, nose, eyelids, lips and oral cavity.
Cowden's syndrome (multiple hamartoma syndrome) is an autosomal dominant disease characterized by multiple cutaneous hamartoma (trichilemmoma, fibroma, verrucous lesions),visceral hamartoma (hyperplastic gastric polyp) or visceral carcinoma (breast carcinoma).
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.
DESMOPLASTIC TRICHILEMMOMA:
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.

25. CUTANEOUS MARKERS OF INTERNAL MALIGNANCY
Syndrome. Inheritance. Manifestations. Associated malignancy. 9Cowden's syndrome (multiple hamartoma syndrome). Autosomal dominant.
http://www.geocities.com/stantonios/mc/maligmrk.html
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:

    26. 1Up Health > Health Links Directory > Conditions And Diseases: M
    Cancer (28) Moyamoya Disease (5) MPS III (4) MRKH (10) Mucopolysaccharidosis 3 (4)Multiple Chemical Sensitivity (27) multiple hamartoma syndrome (3) Multiple
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    27. Cowden Syndrome
    A CHORUS notecard document about this syndrome.Category Health Conditions and Diseases Cowden Syndrome......Cowden syndrome. multiple hamartoma syndrome GItract hamartomas (incl.stomach and colon). breast Ca; thyroid Ca. circumoral papillomatosis;
    http://chorus.rad.mcw.edu/doc/00100.html
    CHORUS Collaborative Hypertext of Radiology Colon
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    Cowden syndrome
    "multiple hamartoma syndrome"
    • GI-tract hamartomas (incl. stomach and colon)
    • breast Ca
    • thyroid Ca
    • circumoral papillomatosis
    • nodular gingival hyperplasia
    See also: polyposis syndromes Charles E. Kahn, Jr., MD - 2 February 1995
    Last updated 14 March 2001

    Medical College of Wisconsin

    28. M
    Multiple Chemical Sensitivity; @ multiple hamartoma syndrome; @ MultipleMyeloma; @ Multiple Personality Disorder; @ Multiple Sclerosis;
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    29. ȸº¸
    Multiple Myeloma(? ?) multiple hamartoma syndrome(? ? ?) see Hamartoma
    http://www.kams.or.kr/news/newsletter46-4.htm
    Korea Index MedicusÀÇ ¼Ò°³
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    30. 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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    31. Birth Disorder Information Directory - CO-CZ
    Syndrome (Cystic Hygroma Lethal Cleft Palate) Cowchock wapner kurtzsyndrome. Cowden('s) Disease/Syndrome (multiple hamartoma syndrome)
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    32. Directory :: Look.com
    Disease (4) Mouth Cancer (28) Moyamoya Disease (5) Mucopolysaccharidosis 3 (4)Multiple Chemical Sensitivity (26) multiple hamartoma syndrome (3) Multiple
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    33. Searchalot Directory For M
    Chemical Sensitivity (26); multiple hamartoma syndrome (3); MultipleMyeloma (17); Multiple Personality Disorder (107); Multiple Sclerosis
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    34. 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

    35. 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

    A PRACTICAL APPROACH TO GASTROINTESTINAL PATHOLOGY
    COLORECTAL MUCOSAL PROLAPSE SYNDROMES
    Robert E. Petras, M.D.
    Introduction
    Slide 8

    Slide 9

    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
    Patients with mucosal prolapse syndrome range in age form 10-83 years with the majority presenting in the third and fourth decade of life. The condition occurs more commonly in women.

    36. 1st Diagnosis
    Cowden’s 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

    37. 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
    articles
    RETURN TO

    May 1996

    TABLE OF

    CONTENTS
    volume 13 number 1 page 114
    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)

    38. 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
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    39. [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
    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."

    40. Cowden Disease Or Multiple Hamartoma Syndrome - Cutaneous Clue Tointernal Malign
    Schilddrüsentumoren. Cowden disease or multiple hamartoma syndrome cutaneous cluetointernal malignancy Review. Autor/-en Fistarol SK, Anliker MD, Itin PH.
    http://www.schilddruese.net/oeffentlich/wissenschaft/news/news863.php
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    Topnews
    News Praxisseminar Klinische Studien ... zurück
    März 2003 Schilddrüsentumoren Cowden disease or multiple hamartoma syndrome - cutaneous clue tointernal malignancy [Review] Autor/-en: Fistarol SK, Anliker MD, Itin PH Quelle: European Journal of Dermatology 2002 Sep-Oct;12(5):411-421
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