61. Medical Image Database, Radiology Teaching Files And Cases, MedPix™: Single Another, even rarer familial polyposis syndrome, the multiple hamartoma syndromeof Cowden, involves stomach, small bowel and colon and also the http://rad.usuhs.mil/medpix/medpix.html?mode=single&comebackto=mode=geo_browse&r

62. The American Journal Of Surgical Pathology - UserLogin multiple hamartoma syndrome. J Am Acad Dermatol 1987;173426. Context Link.4. Barr RJ, Morales RV, Graham JH. Desmoplastic nevus. http://www.ajsp.com/pt/re/ajsp/fulltext.00000478-199805000-00006.htm

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63. [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://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."

64. Article : Radiological Quiz - Neuroradiology ; Author : SUREKHA K ; Co-Author(s) Cowden s disease, which is also called multiple hamartoma syndrome. It is arare hereditary condition characterized by multiple hamartomas and neoplasms http://www.ijri.org/articles/archives/19990901/radquiz01.htm

Radiological Quiz - Neuroradiology SUREKHA K, AK GUPTA, SANTHOSH JOSEPH, KESAVADAS C, NKK PRABHU Ind J Radiol Imag 1999; 9:1: 25-27 A fifty-seven-years old man was well until one year prior to admission to the hospital. He developed recurrent attacks of headache and vomiting with increased frequency of symptoms about one month prior to admission. He also complained of swaying to either side. Examination revealed bilateral papilledema. In addition he also had multiple subcutaneous lipomas and papules over the body. CT and MR were performed (Figs. 1, 2). Fig 1 A Fig 1 B Fig.1 (A,B): T1W axial MR (A) and T2 W coronal MR (B) of the brain Fig. 2 : CT of the brain RADIOLOGICAL DIAGNOSIS: Lhermitte-Duclos Disease (LDD) CT shows an ill-defined hypodense lesion of the right cerebellum with significant mass effect (Fig. 1). MR reveals a hypointense mass on the T1W images (Fig. 2A) and a laminated, striated or folial pattern of increased signal on the T2W images (Fig. 2B). The patient underwent decompression and partial resection of the lesion. On surgery, the cerebellum showed thickened folia. Pathological features demonstrated were suggestive of Lhermitte-Duclos disease (LDD). Dermatological consultation with biopsy of skin lesions was consistent with Cowden's disease.

65. MUMS List Of Disorders - C Costello Syndrome (7) * ; Cowden Syndrome (multiple hamartoma syndrome) (4) *;CranioFronto-Nasal Dysplasia (3); Craniodiaphyseal Dysplasia, http://www.netnet.net/mums/mum_c.htm

Return to MUMS Home Page MUMS: List of Disorders C Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. C-PAP (14) Cachexia (1) Caffey Disease (Cortical Hyperostosis, Infantile) (2) Caffey-Silverman Syndrome (1) CATCH 22 Syndrome(DiGeorge+Velo-Cardio-Facial+Conotruncal) (5) * CHARGE Syndrome (49) * CHARGE-VATER Syndrome (2) Calcium Deficiency (26) Campomelic Dysplasia Syndrome (11) * Camptodactyly (5) Canavan's Leukodystrophy (3) * www.canavan.org/ Cancer (135) * www.cancer.org and www.candlelighters.org Cancer, Acute Lymphatic Leukemia (ALL) (6)* Cancer, Anoplastic Oligodendroglioma Tumor (1) Cancer, Chordoma (Spinal Tumor) (1) * Cancer, Ewings Sarcoma (6) * Cancer, Ovaries (1) * Cancer, Primary Neuroectodermal Tumor of the Spine (PNET) (2) * Cancer, Rhabdomyosarcoma (4)* Candida Yeast Infection (7) Candida Yeast Infection in Large Intestine (1) Carbamyl Phosphate Synthetase Deficiency (CPS) (2) * Carbohydrate-Deficient Glycoprotein Syndrome (CDGS) (8) * Carbon Monoxide Poisoning (2) Cardiac Pacemaker (23) Cardio-Facio-Cutaneous Syndrome (19) ** Cardiomyopathy (36) * www.childrenscardiomyopathy.org

66. Guidelines Of Care For Nevi. II. Nonmelanocytic Nevi, Hamartomas, Neoplasms, And Allen BS, Fitch MH, Smith JG Jr. multiple hamartoma syndrome. J AM ACAD DERMATOL1980;23038. Amaral AL, Nascimento AG, Goellner JR. http://www.aadassociation.org/Guidelines/nevi.html

Guidelines of Care for Nevi. II. Nonmelanocytic Nevi, Hamartomas, Neoplasms, and Potentially Malignant Lesions This report reflects the best data available at the time the report was prepared, but caution should be exercised in interpreting the data; the results of future studies may require alteration of the conclusions or recommendations set forth in this report. Reprint requests: American Academy of Dermatology, P.O. Box 4014, Schaumburg, IL 60168-4014. J AM ACAD DERMATOL 1995;32:104-8 Guidelines of care for nevi. II. Nonmelanocytic nevi, hamartomas, neoplasms, and potentially malignant lesions Committee on Guidelines of Care : Lynn A. Drake, MD, Chairman, Roger I. Ceilley, MD, Raymond L. Cornelison, MD, William L. Dobes, MD, William Dorner, MD, Robert W. Goltz, MD, Gloria F. Graham, MD, Charles W. Lewis, MD, David M. Pariser, MD, Stuart J. Salasche, MD, John W.. Skouge, MD, Maria L. Chanco Turner, MD, and Barbara J. Lowery, MPH Task Force on Nevi, Part II: Robert W. Goltz, MD, Chairman, David R. Barron, MD, Alvin H. Clair, MD, Kenneth G. Gross, MD, and Charles W. Lewis, MD I. Introduction

67. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Hamartoma+ Annals of Surgical Oncology Wirtzfeld et al. 8 (4) 319Also referred to as the multiple hamartomaneoplasia syndrome, 31 Cowden’sdisease (multiple hamartoma syndrome). Mayo Clin Proc 1981; 56 179–84. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Hamartoma Syndrome, Multiple

68. Irritation Fibroma cases of familial fibromatosis, fibrotic papillary hyperplasia of the palate,tuberous sclerosis, or multiple hamartoma syndrome (Cowden syndrome). http://www.maxillofacialcenter.com/BondBook/softtissue/fibroma.html

Irritation (Traumatic) Fibroma Quick Summary Introduction References Photos ... Prognosis Irritation fibromas under dentures are flat and "leaf-shaped." Quick Review for Patients The irritation fibroma is a painless, localized, mass-producing proliferation of dense fibrous "scar" tissue which can result from a single traumatic episode or from repeated, less severe traumatic episodes; chronic inflammation or infection may also produce a fibroma. The lesion can become more than 3 cm. in size but is usually less than 1 cm. It occurs at all ages and in both genders and specialized forms occur under dentures, along denture edges and on inflamed gingiva. The fibroma is best treated by conservative surgical or laser removal, with a small chance of recurrence should the originating irritation persist. There is no risk of malignant transformation. Top of This Page Introduction Note: click on underlined words for more detail or photos. Irritation fibroma

69. Granular Cell Tumor Malignant variants represent approximately 1% of all cases, with some representingneoplasia in Cowden syndrome (multiple hamartoma syndrome), http://www.maxillofacialcenter.com/BondBook/softtissue/grantumor.html

Granular Cell Tumor (Myoblastoma) Quick Summary Introduction References Photos ... Quick Review for Patients Top of This Page Introduction Note: click on underlined words for more detail or photos. It is not clear whether or not granular cell tumor granular cell myoblastoma granular cell schwannoma ) is a true neoplasm, a developmental anomaly, or a trauma-induced proliferation. The basic cell of origin is now thought to be neural, although past reports frequently indicated an origin from striated muscle, or less frequently an origin from histiocytes, fibroblasts or pericytes. The tumor is widely distributed throughout the body, but more than half of all cases occur in the oral cavity. The other head and neck site likely to be involved is the larynx. Malignant variants represent approximately 1% of all cases, with some representing neoplasia in Cowden syndrome multiple hamartoma syndrome but some consider these malignancies to be simply variants of the distinctive and rare alveolar soft part sarcoma, a look-alike malignancy composed largely of granular epithelioid cells organized in alveolar-like nests. Once considered an organoid variant of malignant granular cell tumor or a malignant nonchromaffin paraganglioma, it also has immunohistochemical features of skeletal muscle. Its true histogenesis, however, remains debatable and it is included here only for purposes of convenience. Approximately one in four lesions occur in the head and neck region, usually the oral cavity, pharynx and orbit.

70. GeneCard For PTEN The predominant phenotype for CD is multiple hamartoma syndrome, in many organsystems including the breast (70% of CD patients), thyroid http://bioinfo.cnio.es/cgi-bin/genecards/carddisp?PTEN

71. UniProtKB Entry - UniProt [the Universal Protein Resource] The predominant phenotype for CD is multiple hamartoma syndrome, in many organsystems including the breast (70% of CD patients), thyroid (4060%), skin, http://www.pir.uniprot.org/cgi-bin/upEntry?id=PTEN_HUMAN

72. PhosphaBase 158350 COWDEN DISEASE; CD;;COWDEN SYNDROME; CS;;multiple hamartoma syndrome;MHAM;DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, http://bioinf.man.ac.uk/phosphabase/tyrdisease.html

Home About PhosphaBase Tutorial and Examples Status ... Contact News and Views Conferences and Meetings Phosphatase of the Month Phosphatase Publications Positions A Protein Phosphatase Information Resource Tyrosine Phosphatases Implicated in Disease

73. Cancers - Genetics Home Reference MHAM see Cowden syndrome multiple endocrine neoplasia type 1 multipleendocrine neoplasia type 2; multiple hamartoma syndrome see Cowden syndrome http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/cancers

Home What's New Browse Handbook ... Search Browse Browse Conditions By Name By Category Browse Genes By Symbol By Full Name By Category Browse Chromosomes Cancers Cancer is a condition in which abnormal cells divide without control. Cancer cells can invade nearby tissues and can spread through the bloodstream and lymphatic system to other parts of the body. There are many types of cancer that affect various parts of the body. Adenomatous Polyposis Coli see familial adenomatous polyposis Adenomatous Polyposis of the Colon see familial adenomatous polyposis Angiomatosis retinae see von Hippel-Lindau syndrome BANF see neurofibromatosis 2 BHD see Bilateral Acoustic Neurofibromatosis see neurofibromatosis 2 bladder cancer breast cancer Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome Cancer Family Syndrome see hereditary nonpolyposis colorectal cancer Cancer of breast see breast cancer Cancer of the bladder see bladder cancer Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome Colon cancer, familial see familial adenomatous polyposis Colon Cancer, Familial Nonpolyposis see hereditary nonpolyposis colorectal cancer Cowden syndrome CS see Cowden syndrome Familial Acoustic Neuromas see neurofibromatosis 2 familial adenomatous polyposis Familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer FAP see familial adenomatous polyposis Fibrofolliculomas with trichodiscomas and acrochordons see Glioblastoma, retinal

74. A Case Of Familial Angiolipomatosis With Lisch Nodules multiple hamartoma syndrome (Cowden s disease). Arch Dermatol 1972;106682–690.PubMed Citation 15. Enzinger FM, Weiss SW. Soft Tissue Tumors. 3rd ed. http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/0003-998

75. Inflammatory Papillary Hyperplasia inflammatory papillary hyperplasia verruca vulgaris multiple squamous papillomasoral mucosal lesions of Cowden´s or multiple hamartoma syndrome lesions http://www.dental.mu.edu/oralpath/lesions/flphyp/inflamhyperplasia.htm

Inflammatory Papillary Hyperplasia (Denture Papillomatosis) A reactive tissue growth that usually develops beneath a denture. Clinical Features: "raspbery" appearce (multiple small erythematous nodules) may become symptomatic with secondary infection of Candidia albicans occurs on the palate more common in patients who wear dentures continuously Differential Diagnosis: condyloma acuminatum inflammatory papillary hyperplasia verruca vulgaris multiple squamous papillomas pyostomatitis vegetans Tissue of Origin: mucosa Histologic Features: epithelium and connective tissue papillary configuration inflamed connective tissue inflammatory cells may penetrate epithelium Main Pathologic Process: benign hyperplasia and inflammation Treatment: removing appliances for prolonged periods of time and using tissue conditioner on the base of the dentures use of antifungal agent possible surgical intervention Prognosis: seldom resolves completely, fibrous tissue does not return to normal Webmaster © 2001 - Marquette University School of Dentistry - P.O. Box 1881 - Milwaukee, WI 53201-1881

76. J Med Genet -- Sign In Page multiple hamartoma syndrome. Cowden’s disease. Arch Dermatol 1978;114743–6.Abstract;Weary PE, Gorlin RJ, Gentry WC, Comer JE, Greer KE. http://jmg.bmjjournals.com/cgi/content/full/42/8/e50

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH Author Keyword(s) Vol Page [Advanced] Access to this article requires a subscription or payment. Full Text Arteriovenous malformations in Cowden syndrome Turnbull et al. J Med Genet. To view this item, select one of the options below: Login via Athens Login for existing subscribers User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgotten your user name or password? Subscribe Buy the article Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 SitePass - You may access all content in Journal of Medical Genetics Online (from the computer you are currently using) for 30 days for US$30.00. Regain access to an already purchased article if the access period has not yet expired. This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Turnbull, M M

77. Phenotypic Findings Of Cowden Syndrome And Bannayan-Zonana Syndrome In A Family Cowden s syndrome (multiple hamartoma syndrome and neoplasia syndrome. J Am AcadDermatol 1983;8686696Medline. 4. Brownstein MH, Mehregan AH, http://jmg.bmjjournals.com/cgi/content/full/36/5/360

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Peacocke, M. Related Collections Other Oncology Genetics J Med Genet 360-364 ( May ) Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN a Hui C Tsou a Fei Fei Chen a Hong Zhang a Xiao Li Ping a Mark G Lebwohl b Jeffrey Kezis a Monica Peacocke a a Department of Dermatology, Columbia Presbyterian Hospital, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, New York, New York 10032, USA, b Department of Dermatology, The Mount Sinai School of Medicine, The Mount Sinai Medical Center, One Gustave L Levy Place, Box 1130, New York, New York 10029, USA

78. Anales De Medicina Interna - Translate this page multiple hamartoma syndrome presenting with oral lesions. Early diagnosis ofmultiple hamartoma nad neoplasia syndrome (Cowden disease). http://scielo.isciii.es/scielo.php?pid=S0212-71992001000800006&script=sci_arttex

79. Information Center For Rare Diseases And Orphan Drugs - Sections multiple fibrofolliculoma familial multiple hamartoma syndrome multiple jointdislocations metaphyseal dysplasia multiple pterygium syndrome http://www.raredis.org/modules/sections/index.php?op=viewarticle&artid=27

80. Multiple Chondromatous Hamartomas Of The Lung -- Bini Et Al. 1 (2): 78 -- Intera Cowden disease is a multiple hamartoma syndrome characterized by mucocutaneouslesions, multiple benign tumors of internal organs and increased risk for http://icvts.ctsnetjournals.org/cgi/content/full/1/2/78

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to Personal Folders ... Download to citation manager Author home page(s): A. Bini PubMed Articles by Bini, A. Articles by Chittolini, M. Related Collections Lung - basic science Lung - cancer Lung - other Interactive Cardiovascular and Thoracic Surgery European Association of Cardio-Thoracic Surgery Case report Multiple chondromatous hamartomas of the lung A. Bini M. Grazia F. Petrella and M. Chittolini Corresponding author. Tel.: +39-338-823-1311 Received June 12, 2002; received in revised form August 21, 2002; accepted August 26, 2002 Abstract Top Abstract 1. Introduction 2. Case report 3. Discussion Appendix A References Multiple chondromatous hamartomas (MCH) of the lung are very rare: only 16 cases have been reported to date. In young women

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