Extractions: Treatment Algorithms Articles Textbook Clinical Trials ... Case Reports 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.
Entrez PubMed Click here to read Male breast cancer in cowden syndrome patients withgermline PTEN mutations. Fackenthal JD, Marsh DJ, Richardson http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Entrez PubMed Click here to read Will the real cowden syndrome please stand up reviseddiagnostic criteria. Eng C. Clinical Cancer Genetics Program http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra
Extractions: SAN ANTONIO Cowden syndrome is much more common than traditionally thought, Dr. Charis Eng said at a breast cancer symposium sponsored by the San Antonio Cancer Institute. Since the discovery that germline mutations of the tumor suppressor gene PTEN cause Cowden syndrome, it has become evident that some women who present with breast cancer in the absence of obvious features of Cowden syndrome have unsuspected PTEN mutations. The same is likely to hold true for as yet uncertain numbers of men and women presenting with what appears to be isolated thyroid cancer or a broad range of other disorders, according to Dr. Eng, professor of medicine and director of the clinical cancer genetics program at Ohio State University in Columbus. Cowden syndrome is notoriously difficult to diagnosis. Penetrance of PTEN mutations is variable, the spectrum of associated clinical manifestations is large and diverse, and the hallmark skin lesions are subtle and easily missed.
Lhermitte-Duclos Disease December 2001 features a mouse model of the human LhermitteDuclos Disease, acomponent of cowden syndrome characterized by hamartomas of the brain and http://tbase.jax.org/docs/Pten.html
Extractions: December 2001 features a mouse model of the human Lhermitte-Duclos Disease , a component of Cowden syndrome characterized by hamartomas of the brain and overgrowth of hypertrophied granule cells in the cerebellum. PTEN mutations have been found in the autosomal dominant harmatoma syndromes Cowden disease and Bannayan-Riley-Ruvalcaba syndrome , which are believed to constitute a single syndrome. In man, clinical features of
Extractions: Remember Me Forgot your password? Create a guest account BECOME A MEMBER Journal of Clinical Oncology The ASCO Foundation People Living With Cancer BECOME A SPONSOR The remember me feature is an automatic login process which creates a cookie on the hard drive of your computer containing your username and password, thereby avoiding the need to enter them upon subsequent visits to asco.org. DO NOT select this option if you share this computer with others since personal or member only information will be accessible by other users. For addition information please review our . Click OK to keep the Remember Me option, or click Cancel to remove it. When you are done, click the LOGIN button to continue with the login Process . Home Continuing Education Enduring CE Materials Appendix- Genetic Differential Diagnoses by Organ System Neoplasms Table of Contents 1. Page 1
Extractions: hypertrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction The tables below records disorders known to involve hypertrichosis. The first table lists disorders where hypertrichosis is a primary symptom. The second table lists disorders where hypertrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. The clinical distinction between hypertrichosis and hirsutism is that hypertrichosis involves hair growth on any hair bearing area of skin. The excess hair growth may induced by a wide variety of environmental or genetic factors. Hirsutism is the growth of hair in a secondary sexual characteristic pattern. In women hirsutism involves unwanted excess hair limited to regions including the mustache, beard, chest and/or escutcheon areas. Hirsutism is typically induced by hormonal imbalance, especially androgen excess. This is not necessarily a complete list of disorders involving hypertrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.
Www.dictionarybarn.com/COWDEN-SYNDROME.php Proteus Syndrome cowden syndrome (multiple hamartoma syndrome) is a hereditary disorder characterizedby multiple nodules composed of an overgrowth of mature cells and tissues http://www.dictionarybarn.com/COWDEN-SYNDROME.php
Familial Cancer Database - Bugs cowden syndrome In the comments section (clinical criteria), it is correctly statedthat follicular thyroid cancer is the predominant type of thyroid cancer http://facd.med.rug.nl/bugs.html
Extractions: Cowden syndrome : In the comments section (clinical criteria), it is correctly stated that follicular thyroid cancer is the predominant type of thyroid cancer associated with Cowden syndrome, although the papillary type has been reported as well. However, the displayed tumor spectrum incorrectly only lists the papillary type and searching for follicular thyroid cancer will not find Cowden syndrome.
Cowdenin Syndrooma JV Bagan, M. Peñarrocha, F. VeraSempere cowden syndrome clinical and pathologicalconsiderations in two new cases. AMN Hanssen, JP Fryns cowden syndrome. http://www.helsinki.fi/~usinisal/Cowden.html
Extractions: Cowdenin syndrooma : hamartomatous syndrome, multiple hamartoma syndrome, multiple hamartoma and neoplasia syndrome (Devlin ym., 1992; Hanssen ym., 1995). Taudille ovat ominaisia ihon, limakalvojen, rintojen ja kilpirauhasen ekto-, meso- ja endodermaaliset hamartomatoottiset leesiot. Taudin kliininen merkitys on sen yhteys erityisesti rinnoissa ja kilpirauhasessa oleviin maligneihin tuumoreihin. (Lloyd ym., 1963; Haibach ym., 1992) (Lloyd ym., 1963). (Bagan ym., 1989; Harned ym., 1995) (Bardenstein ym., 1988; Bagan ym., 1989) (Williard ym., 1992) Kliininen kuva Iholeesiot (Bagan ym., 1989) (Steffen ym., 1993) (Fielding, 1993) (Saccardi ym., 1994) (Bagan ym., 1989; Bardenstein ym., 1988; Fielding, 1993) (Saccardi ym., 1994) (Bardenstein ym., 1988; Sabin ym., 1988; Fielding, 1993) (Sabin ym., 1988) (Sabin ym., 1988) (Fielding, 1993) Histologia (Bardenstein ym., 1988; Saccardi ym., 1994) (Bardenstein ym., 1988) (Bardenstein ym., 1988) Limakalvoleesiot Suun limakalvon leesiot ovat luultavasti tunnusomaisempia kuin iholeesiot - niitä on noin 86%:lla potilaista. Leesiot käsittävät papuloita, jotka voivat olle pieniä ja lukuisia tai papillomatoottisia ja syylämäisiä muodostelmia, jotka usein yhdistyvät ja peittävät laajoja alueita suun limakalvoa ja saavat limakalvon näyttämään "mukulakivimäiseltä". Suun limakalvon papillomatoosi käsittää pääasiassa sileäpintasia papuloita, jotka ovat ikenissä, kielessä, huulessa, uvulassa ja suulaessa.
Charis Eng, MD, Ph.D. We then showed that this gene causes a disease called cowden syndrome, whichoften leads to cancer. Which women with cowden syndrome are most at risk? http://www.concertforthecure.org/research/charis_eng.html
Extractions: Singapore-born Charis Eng, M.D., Ph.D., a physician/scientist and one of the few formally trained clinical cancer geneticists in the United States, was the first person to receive research funding from Concert for the Cure . "Dr. Eng's research is allowing us to understand genetic mutations that cause cancer in certain families," said Bruce Chabner, M.D., Chief Medical Officer of the Dana- Farber/Partners Cancer Care System. "She has discovered, for example, that a particular gene, called PTEN, is associated with breast cancer."
J Med Genet -- Abstracts: Çelebi Et Al. 36 (5): 360 Phenotypic findings of cowden syndrome and BannayanZonana syndromein a family associated with a single germline mutation in PTEN. http://www.jmedgenet.com/cgi/content/abstract/36/5/360
Extractions: Genetics J Med Genet 360-364 ( May ) 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
Bannayan-Zonana Syndrome Background. This syndrome is very closely related to cowden s syndromewith multiple hamartomas. Individuals with this syndrome frequently http://www.thedoctorsdoctor.com/diseases/bannayan_zonana_syndrome.htm
Extractions: Background This syndrome is very closely related to Cowden's syndrome with multiple hamartomas. Individuals with this syndrome frequently present with macrocephaly with developmental delay and hypotonia, which are recognized during the first few years of life. Hamartomatous growths such as intestinal polyposis, subcutaneous and visceral lipomas, and vascular malformations are common findings. Skin findings include pigmented macules of the penis. Because of recently discovered genetic findings, there is evidence that Cowden's syndrome and this disease share a common genetic abnormality. Prior to this discovery, there was no increased risk of malignancy in kindreds. However, in light of this new discovery, it has been suggested that there may be an increased risk of malignancy. SYNONYMS Riley-Smith syndrome (1960)
ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Version pour Impression, MALADIE cowden, syndrome de, Synonyme(s)Hamartomes multiples, CIM Q85.8, La maladie de cowden encore appelée http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=201