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         Multiple Hamartoma Syndrome:     more detail

81. Familial Nonmedullary Thyroid Carcinomas: A Heterogeneous Syndrome With Differen
tumors are the most frequent extracutaneous manifestations of Cowden’sdisease (multiple hamartoma syndrome), being observed in two thirds of patients.
http://jcem.endojournals.org/cgi/content/full/82/12/4274-a

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Letters to the Editor
Familial Nonmedullary Thyroid Carcinomas: A Heterogeneous Syndrome with Different Natural History and Variable Long-Term Prognosis b
Francesco Cetta Institute of Surgical Clinics University of Siena 53100 Siena, Italy Some papers and an Editorial recently published in JCEM have dealt with familial nonmedullary thyroid carcinoma ( ). In particular, the paper by Stratakis et al. ) described two patients with thyroid carcinoma (one papillary, one follicular) as a candidate component of the Carney syndrome, an autosomal dominant genetic disease, characterized by spotty skin pigmentation, mixomas, primary pigmented nodular adrenocortical disease, and endocrine overactivity of other glands (pituitary, testis, ovary, breast). Thyroid

82. Cowdenin Tauti - Kehitysvammahuollon Tietopankki
Cowden Disease (multiple hamartoma syndrome), eMedicine, Charles Miller multiple hamartoma syndrome (Cowden s disease) associated with nonHodgkin s
http://www.saunalahti.fi/kup/syndroma/cowden.htm
Kehitysvammahuollon tietopankki
Hyvänlaatuiset ihon ja limakalvojen pikkukasvamat ja syöpäriski sekä isopäisyys
Cowdenin tauti
Cowdenin syndrooma
Multippeli hamartooma-oireyhtymä
Genetics Home Reference -sivulla (2005) kerrottiin, että oireyhtymä on perinnöllinen häiriötila, jota luonnehtivat hamartoomaksi sanotut kasvamat ja lisääntynyt syöpäriski. Pienet kasvamat esiintyvät iholla ja limakalvoissa. Syöpä saattaa puhjeta rinnoissa, kilpirauhasessa ja kohdussa. Muita oireita voivat olla suurikokoinen pää, Lhermitte-Duclosin taudiksi nimitetty aivokasvain ja kehitysvammaisuus. Oireyhtymän esiintyvyydeksi mainittiin 1/200.000. Charles Miller kirjoitti eMedicine -artikkelissaan (2004), että iho-oireita oli ollut 90-100%:lla ja kilpirauhasoireita 66%:lla, etenevää suuripäisyyttä ( makrokefalia ) 80%:lla, silmien kasvaimia 13%:lla, rintasyöpää ( carcinoma of the breast ) 20-36%:lla 38-46-vuotiaista naisista (rintojen kyhmyjä oli ollut 75%:lla) ja paksusuolen epämuodostumia 72%:lla. Suun alueen 1-3 mm pinnallisia papuloita oli esiintynyt n. 80%:lla. Muina oireina mainittiin lintumaiset kasvot, pieni leuka ja korkea kitalaki. OMIM-tietokannan COWDEN DISEASE -artikkelin kliinisessä tiivistelmässä (2001) mainittiin, että keskitasoisesta lievään vaihtelevaa

83. HONselect - Hamartoma Syndrome, Multiple
English, hamartoma syndrome, multiple, Cowden s Disease - multiple hamartomasyndrome - Cowden Disease - Cowdens Disease - Disease, Cowden
http://www.hon.ch/HONselect/RareDiseases/C04.445.435.html
List of rare diseases: English Deutsch
Language:
MeSH term:
Accepted terms:
English: Hamartoma Syndrome, Multiple - Cowden's Disease
- Multiple Hamartoma Syndrome
- Cowden Disease
- Cowdens Disease
- Disease, Cowden
- Disease, Cowden's
Français: Syndrome des hamartomes multiples - Maladie de Cowden - Syndrome de Cowden Deutsch: Cowden-Syndrom - Cowden-Krankheit - Multiple-Hamartome-Syndrom Español: Enfermedad de Cowden Português: Síndrome do Hamartoma Múltiplo - Doença de Cowden HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C04.445.435.html Last modified: Wed May 18 2005

84. Hamartoma Syndrome, Multiple - Cowden's Disease - Information Page With HONselec
A hereditary disease characterized by multiple ectodermal, mesodermal, and endod
http://www.hon.ch/HONselect/RareDiseases/EN/C04.445.435.html
InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese
the word the part of word in MeSH term in MeSH term and description Information on "Hamartoma Syndrome, Multiple": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese
Hamartoma Syndrome, Multiple Definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Papules of the face and oral mucosa are the most characteristic lesion. Other changes occur in the skin, in the thyroid, the breast, the gastrointestinal system, and the nervous system.
Synonym(s): Cowden's Disease / Multiple Hamartoma Syndrome / Cowden Disease / Cowdens Disease /
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Web resources for "Hamartoma Syndrome, Multiple" English French German = Site with HON description - = Site with a robot description info: enter the site: (click below) domain of the site: HONcode - eMedicine - Gardner Syndrome and Other Intestinal Polyposis Syndromes : Article by Ann Scheimann, MD

85. Hamartoma Syndrome, Multiple Topic - Unified Search Environment
hamartoma syndrome, multiple Topic Tree hamartoma syndrome, multipleMSH/MH/D006223 MSH/EP/D006223 MSH/PM/D006223 Cowden s Disease MSH/EP/D006223
http://www.use.hcn.com.au/portals/shared/subject.`Hamartoma Syndrome, Multiple`/
Hamartoma Syndrome, Multiple Topic Tree Definition:
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Papules of the face and oral mucosa are the most characteristic lesion. Other changes occur in the skin, in the thyroid, the breast, the gastrointestinal system, and the nervous system. Synonyms and Source Vocabularies:
Hamartoma Syndrome, Multiple
Cowden's Disease Neoplasms

86. Multiple Endocrine Neoplasia Topic - Unified Search Environment
hamartoma syndrome, multiple Lipomatosis, multiple Symmetrical; multiple EndocrineNeoplasia. multiple Endocrine Neoplasia Type 1 multiple Endocrine
http://www.use.hcn.com.au/portals/shared/subject.`Multiple Endocrine Neoplasia`/
Multiple Endocrine Neoplasia Topic Tree Definition:
group of specific, familial syndromes characterized by simultaneous neoplastic transformation of multiple endocrine tissues, typically the parathyroid glands, pancreatic islets, and anterior pituitary. Synonyms and Source Vocabularies:
Multiple Endocrine Neoplasia
Adenomatosis, Familial Endocrine
Neoplasms, Multiple Endocrine
Adenomatosis, Multiple Endocrine
Multiple Endocrine Neoplasia Syndromes
MEA SYNDROME
multiple endocrine adenopathy
MEA
Familial Endocrine Adenomatoses Multiple Endocrine Adenomatoses Endocrine Gland Neoplasms

87. Kprones CowdenID10018
Cowden s disease (multiple hamartoma and neoplasia syndrome) a case report andreview of the English literature. Salem OS, Steck WD.
http://www.infobiogen.fr/services/chromcancer/Kprones/CowdenID10018.html
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Home Genes Leukemias Solid Tumours ... NA
Cowden Disease
Identity Other names Multiple hamartoma syndrome Inheritance autosomal dominant; high penetrance (close to 100% by the age of 30 yrs); highly variable expressivity (between and within families) Clinics Phenotype and clinics clinical manifestations usually occur during the 2nd and 3rd decade; they are dystrophic, hamartomatous or tumoral lesions including the following to variable extend:
- mucocutaneous papillomatous lesions (facial papules, sometimes related to trichilemmoma; oral papillomatosis with cobblestone gingiva; acral keratoses)
- both dystrophic and adenomatous multinodular goiter
- intestinal tract polyps with variable histologies
- adenosis and fibrocystic disease of the breast
- macrocephaly
- lipomas
- genito-urinary abnormalities
Overlapping syndromes
  • Bannayan-Riley-Ruvalcaba syndrome including precocious stigmata of Cowden disease (macrocephaly, lipomas, genital pigmented macules, hamartomatous intestinal tract polyps) is considered as a pediatric form of Cowden disease
  • Lhermitte Duclos syndrome or dysplastic gangliocytoma of the cerebelum is a rare and complex hamartomatous condition of the cerebellum which can occur alone but also in association with Cowden disease
  • juvenile polyposis and Peutz Jeghers syndrome : Cowden disease, by its intestinal tract lesions can be linked to the scope of hereditary hamartomatous polyposis; molecular diagnosis can be useful in distinguishing juvenile polyposis, Peutz Jeghers syndrome or Cowden disease/Bannayan
  • 88. Kprones BannayanID10044
    RuvalcabaMyhre-Smith syndrome. Macrocephaly, pseudopapilledema, multiple hemangiomata Inherited macrocephaly-hamartoma syndromes. DiLiberti JH.
    http://www.infobiogen.fr/services/chromcancer/Kprones/BannayanID10044.html
    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Home Genes Leukemias Solid Tumours ... NA
    Bannayan-Riley-Ruvalcaba syndrome
    Identity Other names Bannayan-Zonana syndrome Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome Macrocephaly, pseudopapilledema, multiple hemangiomata Macrocephaly, multiple lipomas, hemangiomata Inheritance autosomal dominant; existence of sporadic cases Clinics Note Bannayan-Riley-Ruvalcaba syndrome is an overgrowth syndrome / hamartomatous polyposis condition with an increased risk of benign and malignant tumours; other overgrowth syndromes at (known) risk of tumourigenesis are :
  • Beckwith-Weideman syndrome
  • Sotos syndrome (cerebral gigantism)
  • Hemihyperplasia (hemihypertrophy), and
  • Simpson Golabi Behemel syndrome Phenotype and clinics onset in chilhood (in contrast with Cowden disease , although an allelic disorder, see below); more often found in male patients (lower penetrance in female patients).
    - overgrowth at birth (postnatal growth decelerates).
    - macrocephaly
    - hypotonia and mental deficiency
    - subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis.
  • 89. Cancer
    hamartoma hamartoma syndrome, multiple Proteus syndrome Tuberous Sclerosis Neoplasms, multiple Primary hamartoma syndrome, multiple
    http://www.library.adelaide.edu.au/guide/med/pubhealth/cancer.html
    @import "/lib/house.css"; The University of Adelaide Library Guides Help ... Search
    Public Health Resources by Topic
    Last update: 2 September 2005,
    by Maureen Bell Back to:
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    Cancer
    I've divided this page into two sections. The first provides you with some tips on searching for material on Medline, and the second provides links to other Australian and overseas web resources, including some full text report and journal literature.
    Searching Medline
    You will find material on cancer in Medline, but you will need to be aware of the thesaurus (MeSH) terms used to search for topics in this area. For example, if you look up the term Cancer in the Medline Thesaurus you will find the following. Cancer is not a MeSH term, but it is associated with the MeSH term Neoplasms In other words Medline does not use the word "cancer" in its list of terms. You will need to search the word "neoplasms". This term has an extensive number of more specific terms associated with it.
      Neoplasms
    Cysts Arachnoid Cysts Bone Cysts + Branchioma Bronchogenic Cyst Chalazion

    90. All Lipid Phosphatases
    Bannayan Zonana syndrome, BZS, ITGA 2, MGC11227, MHAM, MMAC1, multiple hamartoma Reacts with Mouse. Predicted to react with Human (100% identity with
    http://www.abcam.com/?c=2146

    91. MeSH-D Terms Associated To MeSH-C Term Hamartoma Syndrome, Multiple
    MeSHD terms associated to MeSH-C term hamartoma syndrome, multiple, G2D Home the association of the corresponding term to hamartoma syndrome, multiple.
    http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Hamartoma_Syndrome,_Multiple:unkno

    92. Bannayan-zonana1999.html
    MINOR MESH HEADINGS hamartomasyndrome,-multiple-pathology; Head-pathology.MAJOR MeSH HEADINGS *hamartoma-syndrome,-multiple-genetics;
    http://www.indiana.edu/~pietsch/bannayan-zonana1999.html
    web contact: pietsch@indiana.edu
    Bannayan-Zonana Syndrome
    An update of the literature (1999)
    For a non-technical description of B-Z syndrome see NORD
    conducted at
    Indiana University , Bloomington, Indiana and presented with the generous co-operation and kind permission of SilverPlatter familial macrocephaly;
    autosomal dominant macrocephaly;
    also called Bannayan-Riley-Ruvalcaba syndrome Record 1 of 6 in MEDLINE EXPRESS (R) 1999/11-1999/12 TITLE: Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. AUTHOR(S): Bevan-S; Woodford-Richens-K; Rozen-P; Eng-C; Young-J; Dunlop-M; Neale-K; Phillips-R; Markie-D; Rodriguez-Bigas-M; Leggett-B; Sheridan-E; Hodgson-S; Iwama-T; Eccles-D; Bodmer-W; Houlston-R; Tomlinson-I ADDRESS OF AUTHOR: Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research, Sutton, UK. SOURCE (BIBLIOGRAPHIC CITATION): Gut. 1999 Sep; 45(3): 406-8 INTERNATIONAL STANDARD SERIAL NUMBER: 0017-5749 PUBLICATION YEAR: 1999 LANGUAGE OF ARTICLE: ENGLISH COUNTRY OF PUBLICATION: ENGLAND MINOR MESH HEADINGS: Adolescence-; Genetic-Markers; Phosphoproteins-genetics; Polymorphism-Genetics; Trans-Activators-genetics

    93. Journal Of Thoracic Imaging - UserLogin
    multiple pulmonary hamartoma syndrome. Chest. 1990; 97962965. MedlineLink Context Link. 11. Sakai F, Sone S, Kiyono K, et al.
    http://www.thoracicimaging.com/pt/re/jti/fulltext.00005382-200401000-00007.htm
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    94. Clinica De Ortodoncia Dr. Arthur Nouel
    Is also known as multiple hamartoma and neoplasia syndrome. It is characterizedorally by the appearance of multiple lesions which are very similar to
    http://www.infocompu.com/adolfo_arthur/ingles/s_cowden.htm
    Portal de ortodoncia y enfermedades de la boca Home Virtual visit Clinic profile Our procedures Services Orthodontics Radiographs Diagnosis Educational Clinical cases Oral diseases Maxillofacial surgery Oral surgery Radiology Index News Products we use Te invitamos a visitar la sección de Cirugía Bucal, con las técnicas quirúrgicas más comunes de la especialidad. oral diseases Is also known as multiple hamartoma and neoplasia syndrome. see other photographs Home Virtual visit Clinic profile ... News

    95. Hamartoma Syndrome, Multiple Terms And Definitions At Www
    hamartoma syndrome, multiple Definitions and Terms. MedicalGlossary.org is designedas a free, browsable resource for all. The medical terms and definitions
    http://www.medicalglossary.org/hamartoma_hamartoma_syndrome_multiple_definitions
    Home Diseases Neoplasms Hamartoma
    Hamartoma Syndrome, Multiple
    Definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Papules of the face and oral mucosa are the most characteristic lesion. Other changes occur in the skin, in the thyroid, the breast, the gastrointestinal system, and the nervous system. Notes: do not use /blood supply /chem /second /secret /ultrastruct Previously Indexed: Hamartoma (1966-1986),Neoplasms, Multiple Primary (1966-1986)
    Hamartoma Syndrome, Multiple Definitions and Terms
    MedicalGlossary.org is designed as a free, browsable resource for all. The medical terms and definitions are not intended to replace medical informaion provided by licensed healthcare professionals. Please see a doctor if you need medical assistance. Don't see the medical term you were researching? Send us an e-mail from our "about us" page. We will do our best to research and classify new medical terms in a timely manner. Our current list of medical terms is over 26,000. Data sources include the U.S. National Library of Medicine, 2004 Medical Subject Headings. About Us Link to Us Main Categories: Anatomy Organisms Diseases Chemicals and Drugs ... Analytical, Diagnostic and Therapeutic Techniques and Equipment

    96. Syndrome Des Hamartomes Multiples : Sites Et Documents Francophones
    Translate this page Arborescence(s) du thesaurus MeSH contenant le mot-clé syndrome des hamartomesmultiples hamartoma syndrome, multiple
    http://www.chu-rouen.fr/ssf/pathol/hamartomemultiplesyndrome.html
    Syndrome des hamartomes multiples Synonyme(s) CISMeF Bannayan-Zonana, syndrome de ; Riley-Smith, syndrome de ; Ruvalcaba-Myhre, syndrome de ; hamartome multiple, syndrome .
    Synonyme(s) MeSH Maladie de Cowden ; Syndrome de Cowden
    Arborescence(s) syndrome des hamartomes multiples hamartoma syndrome, multiple
    maladies et malformations congénitales, héréditaires et néonatales
    tumeurs Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter Ou consulter ci-dessous une sélection des principales ressources :
    Qualificatifs : guide ressources diagnostic

    97. PharmGKB: PTEN
    Alternate Names, BannayanZonana syndrome; multiple hamartoma (Cowden syndrome);mutated in multiple advanced cancers 1. Alternate Symbols, BZS; MHAM;
    http://www.pharmgkb.org/do/serve?objId=PA33942&objCls=Gene

    98. La Maladie De Cowden
    multiple hamartoma and neoplasia syndrome). A case report andreview of the English literature. J Am Acad Dermatol 1983; 8 686-696.
    http://www.orpha.net/data/patho/FR/fr-cowden.html
    Maladie de Cowden Auteur : Docteur Michel LONGY
    Editeur scientifique : Professeur Thierry PHILIP
    Nom de la maladie et de ses synonymes
    Maladie de Cowden, syndrome des hamartomes multiples
    • Papillomatose orale
      Trichilemmomes multiples de la face
      Syndrome de Lhermitte-Duclos Cancer du sein
      Maladie fibrokystique du sein Polypes hamartomateux intestinaux Retard mental

    Le diagnostic de maladie de Cowden est retenu : En l'absence de tout contexte familial, devant :
    Dans un contexte familial de maladie de Cowden
    et Description clinique L' est souvent au premier plan, associant :
    L' L' atteinte intestinale L' atteinte mammaire Des Les L' atteinte neuro-sensorielle
    Mode de prise en charge
    PTEN PTEN PTEN 1. Bonneau D and Longy M. Mutations of the human PTEN gene. Hum Mutat 2. Bronstein MH, Wolf M, Birowski JB. Cowden's disease: a cutaneous marker of breast cancer. Cancer 3. Erbe KW and Compton CC. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 24-1987. A 56-year-old man with a substernal goiter, multiple cutaneous and mucosal lesions, and a positive stool test for occult blood. N Eng J Med 4. Fackenthal JD, Marsh DJ

    99. Lentigo
    Carney complex in a patient with multiple blue naevi and lentigines, The classic hamartoma syndromes and the related conditions discussed in this
    http://www.thedoctorsdoctor.com/diseases/lentigo.htm
    Background This is a common and benign pigmented lesion of the skin, composed of an increase in melanocytes at the dermal-epidermal junction. It is closely related to the melanocytic nevus and indeed, some junctional nevi share histologic features with lentigos, occasionally called jentigos. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing ... Internet Links EPIDEMIOLOGY CHARACTERIZATION INCIDENCE Common AGE RANGE-MEDIAN All SEX (M:F) Both DISEASE ASSOCIATIONS CHARACTERIZATION CARNEY COMPLEX
    Carney complex: in a patient with multiple blue naevi and lentigines, suspect cardiac myxoma. Bleasel NR, Stapleton KM. Department of Dermatology, Royal Hobart Hospital, Tasmania, Australia.
    Australas J Dermatol 1999 Aug;40(3):158-60 Abstract quote Carney complex is characterized by spotty pigmentation (blue naevi and lentigines), myxomas (cardiac, cutaneous, mammary), endocrine over-activity (Cushing's syndrome, acromegaly), testicular tumours, and schwannomas. We report a male with multiple blue naevi, lentigines, testicular large cell calcifying Sertoli-cell tumour and four cardiac myxomas. The myxomas caused two cerebrovascular accidents and a myocardial infarction. All patients with multiple blue naevi or lentigines should be investigated for the life-threatening association of cardiac myxomas.

    100. Birth Disorder Information Directory - M
    multiple Epiphyseal Dysplasia. See Beighton Goldberg Hoff syndrome. multipleHamartoma syndrome. See Cowden syndrome. multiple Hereditary Exostoses
    http://www.bdid.com/defectm.htm

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