EMedicine - Cowden Disease (Multiple Hamartoma Syndrome) : Article By Charles Mi A introduction of Cowden disease followed by an in depth report, including treatment, medication and Category Health Conditions and Diseases Cowden SyndromeCowden Disease (multiple hamartoma syndrome) Cowden disease (CD), also termedCowden syndrome and multiple hamartoma syndrome, is an autosomal dominant http://www.emedicine.com/DERM/topic86.htm
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Internal Medicine Last Updated: July 10, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: multiple hamartoma syndrome, Cowden syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Charles Miller, MD , Dermatologist, Department of Dermatology, Southern California Kaiser Permanente Charles Miller, MD, is a member of the following medical societies: American Academy of Dermatology Editor(s): Craig A Elmets, MD , Director of Dermatology, Departments of Dermatology, Professor, Pathology, Environmental Health Sciences, The Kirklin Clinic, University of Alabama at Birmingham; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Lester Libow, MD , Chief of Dermatopathology, Departments of Dermatology and Pathology, Brooke Army Medical Center;
Multiple Hamartoma Syndrome For Medical Professionals only. multiple hamartoma syndrome, http://www.amersham-health.com/medcyclopaedia/Volume%20IV%201/MULTIPLE%20HAMARTO
Multilple Hamartoma Syndrome - Page 115 multiple hamartoma syndrome. G. Laureys, Ch. Hence the diagnosis of multiple hamartomasyndrome or Cowdens disease was proposed. Figure 1 A, Figure 1 B. http://www.rbrs.org/database/82-3/page115.html
Extractions: Clinical examination revealed a hard, irregular, mobile lump of 2-3 cm in diameter. There were no skin changes, nipple loss, lymphadenopathies nor history of trauma. Mammography and ultra-sonography of the lesion were performed. The lesion was resected followed by a latissimus dorsi transposition and placement of a silicone prosthesis.
Extractions: Clinical history Radiological diagnosis Initial mammography of both breasts (fig. 1 A) shows dystrophic breast tissue in involution and presence of an ovalar and unsharp opacity at the lateral quadrant (4 x 2.5 cm) of the right breast ( arrows ). Ultrasonography of the right breast (fig. 1 B) (fig. 2 A) (fig. 2 B) an inhomogeneous, hypoechoic, unsharply delineated lesion in the retroareolar zone (5 x 2 cm) is seen. On ultrasonography of the right breast (fig. 2 C) Figure 1 A Figure 1 B Figure 2 A ... Figure 2 C Discussion
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: multiple hamartoma syndrome, Cowden syndrome Background: Cowden disease (CD), also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results from a mutation in the PTEN gene on chromosome arm 10q, as reported by Liaw et al. CD causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, central nervous system (CNS), eyes, and genitourinary tract. Skin is involved in 90-100% of cases; the thyroid in 66%. Mucocutaneous features of CD include trichilemmomas, oral mucosal papillomatosus, acral keratoses, and palmoplantar keratoses. CD is associated with the development of several types of malignancy, which is why recognition of individuals with the syndrome is important. In particular, a marked increase is seen in the incidence of breast carcinoma in women and of thyroid carcinoma in both men and women. Reports also exist of several other types of malignancies occurring in patients with CD. Pathophysiology: CD is caused by a mutation in the PTEN tumor suppressor gene (also termed or ) on chromosome 10q23. The protein product of the gene is a phosphatase that regulates the function of other proteins by removing phosphate groups from those molecules. The
Multiple Hamartoma Syndrome only. multiple hamartoma syndrome,, Print this article, see Cowden diseaseALB The Encyclopaedia of Medical Imaging Volume IV1, Disclaimer http://www.amershamhealth.com/medcyclopaedia/Volume IV 1/MULTIPLE HAMARTOMA SYND
LDSweb - Web Meta Search Multiple Chemical Sensitivity@ (28). multiple hamartoma syndrome@ (3). Multiple Myeloma@ (17). Multiple Personality http://ldsweb.org/search/odp.cgi/Health/Conditions_and_Diseases/M
Hamartoma, Oesophageal In patients with multiple hamartoma syndrome they present as numerous very smallsessile lesions causing a small sharply demarcated filling defect on double http://www.amershamhealth.com/medcyclopaedia/Volume IV 1/HAMARTOMA OESOPHAGEAL.a
Extractions: *For Medical Professionals only, registration required Hamartoma, oesophageal, benign tumour characterized histologically by metaplastic respiratory epithelium and islets of cartilage in a fibrous stroma. They can be solitary or may be multiple as part of the Cowden disease. Radiographically they have a variable appearance on the barium study of the oesophagus. The solitary form presents as a nonspecific intraluminal pedunculated and smoothly lined filling defect. In patients with multiple hamartoma syndrome they present as numerous very small sessile lesions causing a small sharply demarcated filling defect on double contrast barium study of the oesophagus. Also, see Cowden disease
European Journal Of Dermatology - Issue 5 - September - October 2002 Review articles. Cowden disease or multiple hamartoma syndrome cutaneous clueto internal malignancy. Susanna K. FISTAROL, Marc D. ANLIKER, Peter H. ITIN. http://www.john-libbey-eurotext.fr/articles/ejd/12/5/en-som.htm
Extractions: European Journal of Dermatology. Vol. 12, Issue 5, September - October 2002 Cowden disease or multiple hamartoma syndrome - cutaneous clue to internal malignancy Susanna K. FISTAROL, Marc D. ANLIKER, Peter H. ITIN Neuropeptides and sebaceous glands Masahiko TOYODA, Motokazu NAKAMURA, Masaaki MOROHASHI Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findings Ahmet AKAR, Davut GÜL, Üzeyir ERDEM, Padmini SARATHCHANDRA, Carolyn TYSOE, Mike POPE Interleukin-4 induces apoptosis in cultured human follicular keratinocytes, but not in dermal papilla cells Nathalie MANDT, Christoph C. GEILEN, Anna WROBEL, Alexandra GELBER, Hartwig KAMP, Constantin E. ORFANOS, Ulrike BLUME-PEYTAVI Proposal for a new UVA protection factor: use of an in vitro model of immediate pigment darkening Corinne ROUTABOUL, Alain DENIS, Michel BOHBOT Effects of dexamethasone and sex hormones on cytokine-induced cellular adhesion molecule expression in human endothelial cells WenChieh CHEN, J. Yu-Yun LEE, Wen-Chuan HSIEH
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
Kprones CowdenID10018 Other names, multiple hamartoma syndrome. Cowden's disease (multiple hamartomaand neoplasia syndrome) a case report and review of the English literature. http://www.infobiogen.fr/services/chromcancer/Kprones/CowdenID10018.html
Extractions: Home Genes Leukemias Solid Tumours ... NA 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: 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
Gene PTENID158 Cowden disease is also known as multiple hamartoma syndrome, a cancer prone conditionwith autosomal dominant pattern of inheritance and high susceptibility to http://www.infobiogen.fr/services/chromcancer/Genes/PTENID158.html
Extractions: Home Genes Leukemias Solid Tumours ... Cowden disease and Bannayan, Riley, Ruvalcaba phenotype Disease Cowden disease is also known as multiple hamartoma syndrome, a cancer prone condition with autosomal dominant pattern of inheritance and high susceptibility to breast carcinoma and in a less extent to thyroid carcinoma ; Bannayan, Ryley, Ruvalcaba syndrome correspond to the pediatric contrepart of Cowden disease with phenotypic overlap between the 2 syndromes (macrocephaly, intestinal polyps, lipomas, genital pigmented macules) Entity sporadic malignant tumors Disease somatic mutations were observed mainly in glioblastoma and in endometrial carcinoma , about 30% of these two kinds of tumors showing point mutations; only a few mutations were reported in prostate carcinoma, malignant melanoma, non Hodgkin lymphomas breast carcinoma External links Hugo PTEN Genes Cyto Gene Seq [Map View - NCBI] GeneCards PTEN CancerGene PTEN ... Genbank [ SRS ] [ ENTREZ ] Unigene Hs.10712 [ S RS ] Hs.10712
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.
Virtual Children's Hospital: Cancer: Cowden Syndrome It is also known as multiple hamartoma syndrome. PTEN Hamartoma Tumor syndrome;Macrocephaly, pseudopapilledema, multiple hemangiomata syndrome; http://www.vh.org/pediatric/patient/cancercenter/cowden/othernames.html
Extractions: Last Revised: April 2002 Other Names The use of different names can be confusing. The problem started when several different groups of physicians and researchers began describing collections of features they observed in their patients. Each group believed that they were describing a new condition. Because CS consists of various features that occur at different times or not at all, the names became even more confused. Simply put, different people will show different features even though they have the same genetic condition. That was enough to make researchers at the time believe they were describing different conditions. In fact, scientists did not realize that all these names were describing one condition until 1986 when it was proposed that Bannayan syndrome and Ruvalcaba-Myhre syndrome were one and the same. In 1996, the overlap of features in CS and Bannayan-Riley-Ruvalcaba syndrome was recognized and molecular evidence for this observation was reported in 1997 and 1999. Since then, many names have been added to the list of syndromes. Below are several names that you may encounter as well. Bannayan-Zonana syndrome Riley-Smith syndrome Ruvalcaba-Myhre syndrome
Virtual Hospital: Cancer Prevention: Definition Of Terms Cowden Syndrome Also known as multiple hamartoma syndrome. Affects primarilywomen, causes skin rashes, tiny wartlike bumps, thyroid http://www.vh.org/adult/patient/cancercenter/prevention/preventionterms.html
Extractions: Last Revision Date: April 2001 3rd edition Agammaglobulinemia : An immunologic deficiency characterized by extremely low levels of all classes of gamma-globulin in the blood. It is associated with the increased risk of colorectal cancer. Ataxia-Telangiectasia : This inherited disorder affects many multiple systems in the body, including progressive degeneration of the cerebellum, a part of the brain, the appearance of spider veins, immunodeficiency that leads to recurrent respiratory infections, and a predisposition to cancer. It may include cancer of the brain, breast, leukemia, lymphoma, skin, stomach and uterus. Basal Cell Nevus Syndrome Bloom Syndrome : An inherited disorder characterized by short height, a sun-sensitive redness on the face, susceptibility to infections, and a tendency to develop several types of cancers, including breast, cervix, colon, esophagus, larynx, lung, skin, and tongue cancers, and leukemia and lymphoma. : A mutation prevents this gene from producing a tumor suppression protein which controls cell growth. This gene was discovered in 1995 and is linked to breast and pancreatic cancer, and possibly colon and prostate cancer.
American Roentgen Ray Society School, Newark, NJ. The Answer is Filiform polyposis of the small bowelin a patient with multiple hamartoma syndrome (Cowden Disease). http://www.arrs.org/edu/caseofweek/gastro/gastro99/cow99_0823/99_0823d.html
Extractions: An enteroclysis showed numerous polyps scattered throughout the small intestine, predominantly in the jejunum. The polyps were relatively uniform in shape, with most having an elongated outline without clubbing of the ends. They measured between 2.0 and 2.5 mm in width and up to 15 mm in length. The bowel contour was normal. A double contrast upper gastrointestinal series showed numerous rounded polyps in the stomach and duodenum ranging from 5 to 20 mm in diameter. Upper endoscopy and ileoscopy both confirmed the presence of multiple filiform polyps as seen on the barium studies. Histologic examination of the specimens obtained from the small intestine, stomach, and duodenum showed polyps containing smooth muscle up to the mucosa, consistent with the multiple hamartoma syndrome. Discussion: Filiform polyps are found most often in the colon of patients with ulcerative colitis but occur also in Crohn's disease, ischemia, and infection. A localized collection of filiform polyps in the cecum has been reported in a patient who had no history of inflammatory bowel disease. The collection most likely resulted from previous ischemia or infection. An unusual case of diffuse colonic filiform polyposis associated with histiocytosis X has also been reported. The stomach and small intestine have been rare sites of filiform polyps in Crohn's disease. However, no previous report has been made of neoplastic polyps having a filiform contour.
