Cowden syndrome

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Cowden syndrome Classification and external resources
ICD-9	759.6
OMIM	158350
DiseasesDB	31336
eMedicine	derm/86
MeSH	D006223

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Evidence Based Medicine
Cochrane Collaboration on Cowden syndrome Bandolier on Cowden syndrome TRIP on Cowden syndrome
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Ongoing Trials on Cowden syndrome at Clinical Trials.gov Trial results on Cowden syndrome Clinical Trials on Cowden syndrome at Google
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Overview

Cowden syndrome is an inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer. Almost everyone with this condition has hamartomas. These small, noncancerous growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but can also occur in the intestinal tract and other parts of the body. People with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and uterus. Indeed, women with Cowden syndrome have as much as a 25-50% lifetime risk of developing breast cancer. (Robbins & Cotran (2004). Pathological Basis of Disease, 7th Edition. Elsevier, 1134. ) Noncancerous breast and thyroid diseases are also common. Other signs and symptoms of Cowden syndrome can include an enlarged head, a rare noncancerous brain tumor called Lhermitte-Duclos disease and mental retardation.

Epidemiology

Because Cowden syndrome can be difficult to diagnose, the exact prevalence is unknown; however, it probably occurs in at least 1 in 200,000 people.

Genetics

Mutations in the PTEN gene cause Cowden syndrome. PTEN is a tumor suppressor gene, which means it helps control the growth and division of cells. Inherited mutations in the PTEN gene have been found in about 80 percent of people with Cowden syndrome. These mutations prevent the PTEN protein from effectively regulating cell survival and division, which can lead to the formation of tumors. Cowden syndrome is one of several inherited diseases caused by mutations in the PTEN gene.

In the other 20 percent of Cowden syndrome cases, the cause is not yet known. Some of these cases may be caused by mutations in a region of DNA that regulates the activity of the PTEN gene.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. It is characterized by numerous hamartomas, among other symptoms.

References

• de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH, Schaapveld M, de Vries EG (2002). "Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility". J Med Genet 39 (4): 225-42. PMID 11950848.
• Eng C (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". J Med Genet 37 (11): 828-30. PMID 11073535.
• Kelly P (2003). "Hereditary breast cancer considering Cowden syndrome: a case study". Cancer Nurs 26 (5): 370-5. PMID 14710798.
• Pilarski R, Eng C (2004). "Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome". J Med Genet 41 (5): 323-6. PMID 15121767.
• Waite KA, Eng C (2002). "Protean PTEN: form and function". Am J Hum Genet 70 (4): 829-44. PMID 11875759.
• Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C (2003). "Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway". Am J Hum Genet 73 (2): 404-11. PMID 12844284.

v • d • e Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759)
Phakomatoses	Abdallat Davis Farrage syndrome - Ataxia telangiectasia - Incontinentia pigmenti - Neurofibromatosis (type I, type II) - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Tuberous sclerosis - Von Hippel-Lindau disease
Due to known exogenous causes	Fetal alcohol syndrome - Phocomelia (via Thalidomide)
Affecting multiple systems	facial (Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome) short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome) limbs (Adducted thumb syndrome, Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association) overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome) combined/other Ablepharon macrostomia syndrome - Alport syndrome - Bardet-Biedl syndrome - Branchio-oto-renal syndrome - Donohue syndrome - Fraser syndrome - Keutel syndrome - Marfan syndrome - Timothy syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zellweger syndrome - Zimmerman-Laband syndrome - Zori Stalker Williams syndrome
Other	spleen: Asplenia - Splenomegaly endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst Conjoined twins - Cowden syndrome - Hamartoma - Impossible syndrome - Situs inversus

v • d • e WikiDoc Research Resources for Cowden syndrome
Articles on Cowden syndrome	Most recent articles on Cowden syndrome • Most cited articles on Cowden syndrome • Review articles on Cowden syndrome • Articles on Cowden syndrome in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Cowden syndrome	Powerpoint slides on Cowden syndrome • Images of Cowden syndrome • Photos of Cowden syndrome • Podcasts & MP3s on Cowden syndrome • Videos on Cowden syndrome
Evidence Based Medicine Regarding Cowden syndrome	Cochrane Collaboration on Cowden syndrome • Bandolier on Cowden syndrome • TRIP on Cowden syndrome
Cost Effectiveness of Cowden syndrome	Cost Effectiveness of Cowden syndrome
Clinical Trials Involving Cowden syndrome	Ongoing Trials on Cowden syndrome at Clinical Trials.gov • Trial results on Cowden syndrome • Clinical Trials on Cowden syndrome at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Cowden syndrome	US National Guidelines Clearinghouse on Cowden syndrome • NICE Guidance on Cowden syndrome • NHS PRODIGY Guidance • FDA on Cowden syndrome • CDC on Cowden syndrome
Textbook Information on Cowden syndrome	Books and Textbook Information on Cowden syndrome
Pharmacology Resources on Cowden syndrome	Dosing of Cowden syndrome • Drug interactions with Cowden syndrome • Side effects of Cowden syndrome • Allergic reactions to Cowden syndrome • Overdose information on Cowden syndrome • Carcinogenicity information on Cowden syndrome • Cowden syndrome in pregnancy • Pharmacokinetics of Cowden syndrome •
Genetics, Pharmacogenomics, and Proteinomics of Cowden syndrome	Genetics of Cowden syndrome • Pharmacogenomics of Cowden syndrome • Proteomics of Cowden syndrome
Newstories on Cowden syndrome	Cowden syndrome in the news • Be alerted to news on Cowden syndrome • News trends on Cowden syndrome
Commentary on Cowden syndrome	Blogs on Cowden syndrome
Patient Resources on Cowden syndrome	Patient resources on Cowden syndrome • Discussion groups on Cowden syndrome • Patient Handouts on Cowden syndrome • Directions to Hospitals Treating Cowden syndrome • Risk calculators and risk factors for Cowden syndrome
Healthcare Provider Resources on Cowden syndrome	Symptoms of Cowden syndrome • Causes & Risk Factors for Cowden syndrome • Diagnostic studies for Cowden syndrome • Treatment of Cowden syndrome
Continuing Medical Education (CME) Programs on Cowden syndrome	CME Programs on Cowden syndrome
International Resources on Cowden syndrome	Cowden syndrome en Espanol • Cowden syndrome en Francais
Business Resources on Cowden syndrome	Cowden syndrome in the Marketplace • Patents on Cowden syndrome
Informatics Resources on Cowden syndrome	List of terms related to Cowden syndrome

de:Cowden-Syndrom fr:Syndrome de Cowden

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .