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         Multiple Hamartoma Syndrome:     more detail

41. Images.MD: View Collection
View Full Size, multiple hamartoma syndrome. Click here for more detail about this View Full Size, Multiple polyps of the colon in Cwoden s syndrome
http://www.images.md/users/explore_chapter.asp?ID=GIC0301-12&colID=GIC0301&colti

42. %601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL
is a characteristic skin lesion of Cowden multiple hamartoma syndrome (158350),Multiple familial trichoepithelioma (MFT), also called epithelioma
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:601606] -e

43. 158350 COWDEN DISEASE; CD
multiple hamartoma syndrome; MHAM COWDENLIKE SYNDROME, INCLUDED (1972)proposed the designation multiple hamartoma syndrome and identified an autosomal
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:158350] -e

44. Karger Publishers
1 Barax GN, Lebwohl M, Phelps RG multiple hamartoma syndrome. J Am Acad Dermatol1987;17342346. External Resources; 2 Brownstein MH, Mehregan AH,
http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

45. Cancer Nursing - UserLogin
1 Also known as multiple hamartoma syndrome, Cowden syndrome includes abnormalitiesin 3 germ cell layers (mesoderm, ectoderm, and endoderm),
http://www.cancernursingonline.com/pt/re/nca/fulltext.00002820-200310000-00005.h
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46. Cancer Nursing - Abstract: Volume 26(5) October 2003 P 370-375 Hereditary Breast
The following case study describes the assessment process for a less commongenetic disorder known as Cowden syndrome, or multiple hamartoma syndrome,
http://www.cancernursingonline.com/pt/re/nca/abstract.00002820-200310000-00005.h
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Fulltext
PDF (344 K) Permissions Hereditary Breast Cancer Considering Cowden Syndrome: A Case Study.
Cancer Nursing. 26(5):370-375, October 2003.
Kelly, Patricia RN, MS, AOCN Abstract:
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47. Medicine - UserLogin
Cowden syndrome (CS) (OMIM 158350*), or multiple hamartoma syndrome, is a rareautosomal multiple hamartoma syndrome (Cowden disease). Arch Dermatol.
http://www.md-journal.com/pt/re/medicine/fulltext.00005792-200503000-00007.htm
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48. CUTANEOUS MARKERS OF INTERNAL MALIGNANCY
9 Cowden s syndrome (multiple hamartoma syndrome). Autosomal dominant.Multiple trichilemmomas (hyperkeratotic, flat-topped, wart-like) especially around
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:

    49. John Libbey Eurotext : Éditions Médicales Et Scientifiques France : Revues
    Cowden disease or multiple hamartoma syndrome cutaneous clue to internal malignancy.European Journal of Dermatology. Number 12, volume 5, 411-21,
    http://www.john-libbey-eurotext.fr/en/revues/medecine/ejd/e-docs/00/01/87/31/res

    50. Introduction [Case: Family History Of Colorectal Cancer > Syndromes]
    Cowden syndrome is a rare autosomal dominant multiple hamartoma syndrome. Nelen etal. (1999) estimated that the prevalence of Cowden syndrome in the Dutch
    http://www.geneticsolutions.com/PageReq?id=4339:22212

    51. Immunology And Uveitis Service | Medical Professionals | Articles | Case Reports
    Cowden syndrome has also the name of ™multiple hamartoma syndromeÓ and was firstdescribed by Lloyd and Dennis in 1963. It is part of the genodermatoses
    http://www.uveitis.org/medical/articles/case/Cowden_sy.html
    Treatment Algorithms Articles Textbook Clinical Trials ... Case Reports
    Uveitis and Glaucoma in Cowden Syndrome. Therapeutical challenge.
    Margherita E. Meniconi Introduction 22-years old woman with recently diagnosed with Cowden Syndrome, was referred for recommendations regarding her glaucoma and uveitis treatment. Case presentation A caucasian female, age 22, was referred for recommendations for treatment of uveitic glaucoma in her remaining right eye. Her past ocular history was significant for bilateral uveitis at age 4, complicated by retinal detachment OS and OS phthisis. Her right eye needed surgical excision of a vitreo-retinal traction band. After a period of stability, retinal detachment developed in the right eye and was successfully treated with pars plana vitrectomy and scleral buckling at age 13 years. Secondary cataract developed, requiring cataract extraction. Best-corrected vision at age 14 was 20/40. The intraocular pressure was normal until age 17. Glaucoma then developed, and the pressure was around 29 mmHg, despite therapy with dorzolamide, timolol, brimodine and latanaprost. The review of system was significant for status post pneumonia at age 16 and status post thyroidectomy two years earlier and recent diagnosis of Cowden Syndrome.

    52. Cowden's Syndrome
    CAUSES. ectodermal neoplasia; 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

    53. GeneCard For PTEN
    The predominant phenotype for CS is multiple hamartoma syndrome, in many organsystems including the breast (70% of CS patients), thyroid
    http://genecards.bcgsc.bc.ca/cgi-bin/carddisp?PTEN

    54. Ataxia: Dominant
    multiple hamartoma syndrome PTEN; 10q23 Myelocerebellar Neuronal intranuclearinclusion disease multiple hamartoma syndrome (Cowden; LhermitteDuclos)
    http://www.neuro.wustl.edu/neuromuscular/ataxia/domatax.html

    Front
    Search Index Links ... Patient Info
    HEREDITARY ATAXIAS: DOMINANT
    Spinocerebellar Ataxia (SCA)
    : Ataxin-1; CAG repeat; 6p23
    : Ataxin-2; CAG repeat; 12q24
    : Ataxin-3; CAG repeat; 14q32
    : Puratrophin-1; 16q22
    Ca channel; CAG repeat; 19p13
    : Ataxin-7; CAG repeat; 3p14
    : ATTCT repeat; 22q13
    : PRKCG; 19q13.4-qter
    : TBP; CAG repeat; 6q27 SCA Unlinked Ataxia Syndromes SCA: Differential features Episodic ataxias (EA) ... EA 1 with Myokymia : KCNA 1; 12p13 EA 2, Paroxysmal Ca channel; 19p13 EA 3 EA 4 Cajal Other dominant ataxia syndromes Adult-onset leukodystrophy CAPOS syndrome DRPLA : DRPLA protein; CAG repeat Familial dementia Glucose transporter 1 deficiency Holmes ataxia Huntington 2: Junctophilin-3; CAG/CTG repeat Mental retardation Multiple hamartoma syndrome : PTEN; 10q23 Myelocerebellar Neuronal intranuclear inclusion disease Nystagmus Parenchymal degeneration ... Prion disease : Prion protein; 20p12 Sensory-Motor Neuropathy + Ataxia SPAR Spastic ataxia syndromes Tremor, Essential ... Von Hippel-Lindau Syndrome : VHL protein; 3p26 Dominant Spinocerebellar Ataxia (SCA): General
    • Incidence: ~1 to 5 per 100,000

    55. Cowden Syndrome - Genetics Home Reference
    Cowden s disease; Cowden s syndrome; CS; MHAM; multiple hamartoma syndrome.See How are genetic conditions and genes named? in the Handbook.
    http://www.ghr.nlm.nih.gov/ghr/disease/cowdensyndrome
    Home What's New Browse Handbook ... Search Cowden syndrome
    Cowden syndrome
    On this page:
    What is Cowden syndrome?
    Cowden syndrome is an inherited disorder characterized by multiple tumor-like growths (called hamartomas) and an increased risk of certain cancers. Almost everyone with this condition has hamartomas. These small, noncancerous growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but can also occur in the intestinal tract and other parts of the body. People with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and uterus. Noncancerous breast and thyroid diseases are also common. Other signs and symptoms of Cowden syndrome can include an enlarged head; a rare, noncancerous brain tumor called Lhermitte-Duclos disease; and mental retardation.
    How common is Cowden syndrome?

    56. Journal Of Pediatric Hematology Oncology - UserLogin
    multiple hamartoma syndrome with osteosarcoma. Arch Pathol Lab Med 1993; 11712524. Medline Link Context Link. 19. Goto M, Miller RW, Ishikawa Y,
    http://www.jpho-online.com/pt/re/jpho/fulltext.00043426-200106000-00016.htm
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    57. Cowden Syndrome
    multiple hamartoma syndrome . GItract hamartomas (incl. stomach and colon).breast Ca; thyroid Ca. circumoral papillomatosis; nodular gingival hyperplasia
    http://chorus.rad.mcw.edu/doc/00100.html
    CHORUS Collaborative Hypertext of Radiology Colon About CHORUS
    Search

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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 26 May 2004
    Related CHORUS documents:
    polyposis syndromes gastric polyps Peutz-Jeghers syndrome Cronkhite-Canada syndrome ... leukodystrophy
    Search for related articles:
    AJR American Journal of Roentgenology PubMed : index to biomedical literature ...

    Medical College of Wisconsin

    58. Resources For Genetic Counselors - Cowden Syndrome
    A. multiple hamartoma syndrome with high risk for benign and malignant tumors ofbreast, thyroid, and endometrium. B. Part of PTEN hamartoma tumor syndrome
    http://www.genesoc.com/counseling2/article51.html
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    II. Medical and Family Histories

    59. Syndromes In Breast Cancer
    It is also called as multiple hamartoma syndrome. PTEN is a tumour suppressorgene located on 10q23 chromosome. The gene product of PTEN is a phosphatase
    http://www.au-kbc.org/research_areas/bio/projects/bcinfo/gen/synd.html
    AU-KBC RESEARCH CENTRE
    Syndromes associated with breast cancer
    The incidence of syndrome associated with breast cancer is very low (less than 1%). The various syndromes associated with breast cancer are:
    Li-Fraumeni syndrome:
    A large number of sporadic cancers are due to mutation in p53 but when this occurs in germline cells, it results in Li-Fraumeni syndrome. It is characterized by premenopausal breast cancer in combination with childhood soft tissue tumours, brain tumors, leukemia, lymphoma, and adrenocortical carcinoma. The probability that these individuals will develop breast cancer is 60% overall. Germline mutations are mostly seen in the exon 7 of p53 gene. [OMIM]
    Germline mutations in another gene, hCHK2, have been implicated in the etiology of one classical and two variant Li-Fraumeni families
    A detailed account of p53 is discussed here
    Cowden syndrome:
    It is an autosomal dominant syndrome characterized by hamartomatous lesions in the breast, GI tract (polyps), CNS (Central Nervous System), skin and mucosa, eyes, thyroid, genitourinary tract and bones. Germline mutations in the PTEN gene is responsible for this syndrome. Diagnosis is established through identification of characteristic skin lesions (acral keratosis, facial trichilemmomas, and oral papules). It is also called as multiple hamartoma syndrome. PTEN is a tumour suppressor gene located on 10q23 chromosome. The gene product of PTEN is a phosphatase which plays an important role in regulating cell growth. Mutation in PTEN gene results in loss of protein function leading to uncontrolled cell proliferation and hamartomatous growths.

    60. World J Gastroenterol
    Cowden disease or multiple hamartoma syndromecutaneous clue to internal Colorectal polyps in Cowden’s disease (multiple hamartoma syndrome).
    http://www.wjgnet.com/1007-9327/11/1567.asp

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