81. SpringerLink: Der Hautarzt - Abstract Volume 46 Issue 7 (1995) Pp 472-476 Translate this page multiple hamartoma and neoplasia syndrome, or Cowden's disease, is a genodermatosisinherited as an autosomal dominant trait with variable expressivity. http://link.springer-ny.com/link/service/journals/00105/bibs/5046007/50460472.ht

Der Hautarzt ISSN: 0017-8470 (printed version) ISSN: 1432-1173 (electronic version) Table of Contents Abstract Volume 46 Issue 7 (1995) pp 472-476 Cowden-Syndrom Cowden's disease Eingegangen am 20. April 1994 Angenommen am 24. August 1994 Zusammenfassung Summary Multiple hamartoma and neoplasia syndrome, or Cowden's disease, is a genodermatosis inherited as an autosomal dominant trait with variable expressivity. We describe a woman with classic mucocutaneous features of the syndrome: facial papules, acral keratoses, oral mucosal papillomatosis, oral polyps and scrotal tongue. As a child she had strabismus. Her family history is positive for the disease, and a sister died of malignant melanoma. The check-up revealed chronic lymphocytic thyroiditis. A checklist for use in screening patients with Cowden's disease is proposed. Key words Article not available online Online publication: November 9, 1997 helpdesk.link@springer.de

82. GeneClinics: Diseases And Overviews multiple Epiphyseal Dysplasia, Recessive multiple Exostoses, Hereditary PituitaryHormone Deficiency PTEN hamartoma Tumor syndrome PallisterHall http://www.geneclinics.org/profiles/

Funded by NIH, HRSA, and DOE Index of Review Titles The following is a list of titles of reviews in the GeneReviews database. If your search term is not listed below, try searching for your term. A B C D ... Contact Us Children's Health System and University of Washington, Seattle Funding Support National Institutes of Health Health Resources and Services Administration US Department of Energy Technical Support University of Washington Seattle, Washington Administrative Support University of Washington School of Medicine Children's Hospital Regional Medical Center Seattle, Washington

83. Neoplasms List of links relating to neoplasms, with special section on nervous-system neoplasms. From Sweden.Category Health Conditions and Diseases Neoplasms...... Treatment of Psudomyxoma peritonei syndrome Sugarbaker Oncology multiple SymmetricalLipomatosis ME Boyle, via hamartoma hamartoma, pulmonary - Virt Hosp/U http://www.mic.ki.se/Diseases/c4.html

search help staff Neoplasms Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search CancerLit at NCI/NIH Cancer.gov including the PDQ database , a section on Cancer Treatment Information , and a News Center - National Cancer Institute/NIH (US) OncoLink - Univ of Pennsylvania (US) MD Anderson Cancer Center including a set of Practice Guidelines - University of Texas (US) Comprehensive Cancer Center at the University of Michigan (US) The American Cancer Society , and Cancer Medicine e.5 [full-text book online] Cancer Guide S Dunn ] - (US) Cancer (Patient) Information Directory 2002/2003 - Macmillan Cancer Relief project Cancer Track Cancer Booklets from The Royal Marsden (UK) Clinical Trials - Cancer.gov (US) Clinical Trials: Cancers and other Neoplasms - ClinicalTrials.gov (US) Cancer Clinical Trials - Cancer411.org Clinical Trials (brain tumors) - Musella Foundation Clinical Trial Protocols - Kimmel Cancer Center/Thomas Jefferson Univ. (US)

84. EMedicine Dermatology : INTERNAL MEDICINE - Online Medical Textbooks And Physici Carney syndrome, (CME available). Cowden Disease (multiple Hamartomasyndrome), (CME available). CronkhiteCanada syndrome, (CME available). http://www.emedicine.com/derm/INTERNAL_MEDICINE.htm

Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: Dermatology > Internal Medicine Dermatology - Internal Medicine Articles Acrokeratosis Neoplastica (CME available) Acromegaly (CME available) ... (CME available) document.write(''); About Us Privacy Contact Us Advertise with Us ... Institutional Subscribers

85. Cowden Syndrome breast, endometrial, and thyroid cancer. SYNONYMS, multiple hamartomasyndrome. PATHOGENESIS, CHARACTERIZATION. Identification of a PTEN http://www.thedoctorsdoctor.com/diseases/cowdensyndrome.htm

Background Cowden syndrome (CS) is a autosomal dominant inherited syndrome. These patients are characterized by multiple hamartomas occurring in the skin, breast, thyroid, gastrointestinal tract, endometrium, and brain. Patients do have an increased risk of experiencing malignant tumors with the most common ones are breast, endometrial, and thyroid cancer. SYNONYMS Multiple hamartoma syndrome PATHOGENESIS CHARACTERIZATION Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome J Am Acad Dermatol 2001;44:183-7 Single kindred with individuals manifesting both CS and BZS phenotypes (CS/BZS overlap family) Novel mutation in PTEN by DNA sequencing. The PTEN gene (phosphatase and tensin homolog deleted from chromosome 10) has been identified as the susceptibility gene for CS and BZS Also known as MMAC1 (mutated in multiple advanced cancers) or TEP1 (TGF-regulated and e pithelial cell-enriched p hosphatase), is a tumor suppressor gene located on chromosome 10q23.28-30 It has 9 exons that encode a protein of 403 amino acids. The presence of individuals with CS and BZS within the same family, and moreover the identification of identical PTEN gene mutations in these individuals, suggest that these two syndromes represent different phenotypic expressions of one disease

86. WebGuest - Open Directory Health Conditions And Diseases M Mucopolysaccharidosis 3@ (4); multiple Chemical Sensitivity@ (28); multipleHamartoma syndrome@ (3); multiple Myeloma@ (17); multiple Personality http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/M/

87. Mafucci's Syndrome (www.whonamedit.com) dyschondroplasia with haemangioma, dyschondrodysplasiahaemangiomas syndrome; multipleenchondromatosis syndrome; vascular hamartoma-dyschondroplasia syndrome. http://www.whonamedit.com/synd.cfm/585.html

Home List categories Eponyms A-Z Biographies by country ... Contact Mafucci's syndrome Also known as: Kast’s disease Kast’s syndrome Maffucci-Kast syndrome Synonyms: Achondromatosis with haemangiomata, chondrodysplasia angiomatosis syndrome, chondrodystrophy-haemangiomas syndrome; chondrodystrophy and vascular hamartoma syndrome, chondrodystrophy with angiomatosis, chondrodystrophy with vascular hamartoma, cutaneous dyschondroplasia-dyschromia syndrome, dyschondroplasia-angiomatosis syndrome, dyschondroplasia with haemangioma, dyschondrodysplasia-haemangiomas syndrome; multiple enchondromatosis syndrome; vascular hamartoma-dyschondroplasia syndrome. Associated persons: Alfred Kast Angelo Maffucci Description: Syndrome of enchondromas (benign tumours of cartilage), associated with multiple cavernous haemangiomas. Sometimes the patients show pigmentation. Normal at birth; bone and cartilage deformities appear during childhood in the years before puberty and the deformities increase during the period of growth. Complications are pathological fractures and other disorders of nonossified cartilage in the metaphyses and diaphyses of the long bones, chondrosarcoma and angiosarcoma. The skin and bony elsions are asymmetrical and do not coincide anatomically. Usually, no history of pain; orthostatic hypotension in sitting or standing position. Normal intelligence. Males are more frequently affected. Both sexes affected. Most cases are sporadic, but some instances of familial occurrence have been reported.

88. Clinical Study: 94-HG-0193, Phenotype And Etiology Of Pallister-Hall Syndrome Gelastic Seizure Hypothalamic Malformations Recruitment Keywords PallisterHallSyndrome Conditions Epilepsy hamartoma multiple Abnormalies Syndactyly http://clinicalstudies.info.nih.gov/detail/A_1994-HG-0193.html

Protocol Number: 94-HG-0193 Title: Phenotype and Etiology of Pallister-Hall Syndrome Number: 94-HG-0193 Summary: We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins. Sponsoring Institute: National Human Genome Research Institute (NHGRI) Recruitment Detail Type: Active Accrual Of New Subjects Gender: Referral Letter Required: No Population Exclusion(s): None Eligibility Criteria: INCLUSION CRITERIA: Subjects with clinical manifestations of a polydactyly syndrome including; PHS, oral-facial-digital syndrome, McKusick-Kaufman syndrome, Grieg cephalopolysyndactyly syndrome, Bardet-Biedl syndrome, acrocallosal syndrome, autosomal dominant polydactyly, isolated hypothalamic hamartoma.

89. Katalog Health Conditions_and_Diseases M - Netz-Tipp. multiple Chemical Sensitivity (*); multipleHamartoma syndrome (*); multiple Myeloma (*); multiple Personality http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/M/

90. CancerGene BZS Class, DISORDER. Diseases, Abnormalities, multiple; Brain Neoplasms; HamartomaSyndrome, multiple; Hemangioma; Lipoma. Note, see related gene PTEN (CG639). http://caroll.vjf.cnrs.fr/cancergene/CG917.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol BZS Aliases Name Bannayan-Zonana syndrome Locus OMIM GDB SwissProt LocusLink BZS Class DISORDER Diseases Abnormalities, Multiple; Brain Neoplasms; Hamartoma Syndrome, Multiple; Hemangioma; Lipoma Note see related gene PTEN ( CG:639 Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Marsh DJ;Kum JB;Lunetta KL;Bennett MJ;Gorlin RJ;Ahmed SF;Bodurtha J;Crowe C;Curtis MA;Dasouki M;Dunn T;Feit H;Geraghty MT;Graham JM Jr;Hodgson SV;Hunter A;Korf BR;Manchester D;Miesfeldt S;Murday VA;Nathanson KL;Parisi M;Pober B;Romano C;Eng C;et al PTEN mutation spectrum and genotype-phenotype correlations in Bannayan- Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999 Aug;8(8):1461-72 Celebi JT;Tsou HC;Chen FF;Zhang H;Ping XL;Lebwohl MG;Kezis J;Peacocke M Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J Med Genet 1999 May;36(5):360-4

91. Dept. Of Dermatology - Tuesday Evening Conferences Acquired perforating dermatosis, Alexandra Brecher, MD, Ph.D. Multiplehamartoma syndrome (Cowden's disease), Meredith Kosann, MD. http://www.med.nyu.edu/Derm/conf/022001.html

92. Error Page détaillée de la maladie, MIM 158350,...... newsgroup. question to Orphanet. DISEASE Cowden syndrome, Synonym(s) Multiplehamartoma syndrome, CIM Q85.8, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=201

93. Uveitis And Glaucoma In Cowden Syndrome Cowden syndrome (CS). Introduction. Cowden syndrome has also the name of “multiplehamartoma syndrome” and was first described by Lloyd and Dennis in 1963. http://www.uveitis.org/Enhanced/MD_info/md_Cowden_sy.htm

Uveitis and Glaucoma in Cowden Syndrome. Therapeutical challenge. Margherita E. Meniconi Introduction 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. At the time of consultation with us, the patient’s best-corrected vision in OD was 20/30, pinhole 20/25; OS no light perception. The intraocular pressures were 19mmHg OD and 6mmHg OS.

94. AnsMe Directory - Health > Conditions And Diseases > M Mucopolysaccharidosis 3. multiple Chemical Sensitivity. multiple HamartomaSyndrome. multiple Myeloma. multiple Personality Disorder. multiple Sclerosis. http://dir.ansme.com/health/43355.html

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