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| __NOTOC__ | | __NOTOC__ |
| {{Cowden syndrome}} | | {{Cowden syndrome}} |
| {{CMG}}
| | '''For patient information, click [[Cowden syndrome (patient information)|here]]''' |
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| ==Overview==
| | {{CMG}}; {{AE}} {{VKG}} |
| '''Cowden syndrome''' is an [[inherited disorder]] characterized by multiple tumor-like growths called [[hamartoma]]s 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. ({{cite book
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| | last = Robbins & Cotran
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| | first =
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| | authorlink =
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| | coauthors =
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| | title = Pathological Basis of Disease, 7th Edition
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| | publisher = Elsevier
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| | date = 2004
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| | location =
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| | pages = 1134
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| | url =
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| | doi =
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| | id = }}) 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.
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| ==Epidemiology==
| | {{SK}} Cowden disease; CD; Cowden's disease; CS; Multiple hamartoma syndrome; MHAM |
| 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.
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| ==Genetics== | | ==[[Cowden syndrome overview|Overview]]== |
| Mutations in the [[PTEN (gene)|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.
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| 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.
| | ==[[Cowden syndrome historical perspective|Historical Perspective]]== |
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| 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 [[hamartoma]]s, among other symptoms.
| | ==[[Cowden syndrome classification|Classification]]== |
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| ==Differentiating Cowden syndrome from other diseases== | | ==[[Cowden syndrome pathophysiology|Pathophysiology]]== |
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| <small>
| | ==[[Cowden syndrome causes|Causes]]== |
| {| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align="center"
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| | ==[[Cowden syndrome differential diagnosis|Differentiating Cowden Syndrome from other Diseases]]== |
| ! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease}}
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| ! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Gene}}
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| ! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Chromosome}}
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| ! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differentiating Features}}
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| ! colspan="3" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Components of MEN}}
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| ! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Diagnosis}}
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| |-
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| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Parathyroid}}
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| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Pitutary}}
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| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Pancreas}}
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[von Hippel-Lindau syndrome]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Von Hippel–Lindau tumor suppressor
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |3p25.3
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * Angiomatosis,
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| * Hemangioblastomas,
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| * Pheochromocytoma,
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| * Renal cell carcinoma,
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| * Pancreatic cysts (pancreatic serous cystadenoma)
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| * Endolymphatic sac tumor,
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| * Bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women)
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | +
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * Clinical diagnosis
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| * In hereditary VHL, disease techniques such as Southern blotting and gene sequencing can be used to analyse DNA and identify mutations.
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| |- | |
| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Carney complex]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | PRKAR1A
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 17q23-q24
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * Myxomas of the heart
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| * Hyperpigmentation of the skin (lentiginosis)
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| * Endocrine (ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease)
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * Clinical diagnosis
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| |-
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Neurofibromatosis type 1]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |RAS
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * [[Scoliosis]]
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| * Learning disabilities
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| * [[Vision]] disorders
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| * Cutaneous [[lesion]]s
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| * [[Epilepsy]].
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |'''<u>Prenatal</u>'''
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| * Chorionic villus sampling or amniocentesis can be used to detect NF-1 in the fetus.
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| '''<u>Postnatal</u>'''
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| Cardinal Clinical Features" are required for positive diagnosis.
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| * Six or more café-au-lait spots over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals.
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| * Two or more neurofibromas of any type or 1 plexiform neurofibroma
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| * Freckling in the axillary (Crowe sign) or inguinal regions
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| * Optic glioma
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| * Two or more Lisch nodules (pigmented iris hamartomas)
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| * A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without pseudarthrosis.
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Li-Fraumeni syndrome]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |TP53
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Early onset of diverse amount of [[cancer]]s such as
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| * [[Sarcoma]]
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| * [[Cancer]]s of
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| ** [[Breast]]
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| ** [[Brain]]
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| ** [[Adrenal gland]]s
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| '''<u>Criteria</u>'''
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| * Sarcoma at a young age (below 45)
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| * A first-degree relative diagnosed with any cancer at a young age (below 45)
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| * A first or second degree relative with any cancer diagnosed before age 60.
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Gardner's syndrome]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | APC
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 5q21
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * Multiple polyps in the colon
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| * Osteomas of the skull
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| * Thyroid cancer,
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| * Epidermoid cysts,
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| * Fibromas
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| * Desmoid tumors
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * Clinical diagnosis
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| * Colonoscopy
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Multiple endocrine neoplasia type 2]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |''RET''
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * [[Medullary thyroid carcinoma]] (MTC)
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| * [[Pheochromocytoma]]
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| * Primary [[hyperparathyroidism]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | +
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * [[Hypercalcemia]]
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| * [[Hypophosphatemia]],
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| * Elevated [[parathyroid hormone]],
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| * Elevated [[norepinephrine]]
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| '''<u>Criteria</u>'''
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| Two or more specific endocrine tumors
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| * [[Medullary thyroid carcinoma]]
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| * [[Pheochromocytoma]]
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| * [[Parathyroid]] hyperplasia
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |PTEN
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Hamartomas
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * ''PTEN'' mutation probability risk calculator
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| |-
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Acromegaly]]/[[gigantism]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * Enlargement of the [[hand]]s, [[feet]], [[nose]], [[lip]]s and [[ear]]s, and a general thickening of the [[skin]]
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| * [[Hypertrichosis]]
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| * [[Hyperpigmentation]]
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| * [[Hyperhidrosis]]
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| * [[Carpal tunnel syndrome]].
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * An elevated concentration of serum [[Growth hormone|growth hormone (GH)]] and [[Insulin-like growth factor|insulin-like growth factor 1(IGF-1)]] levels is diagnostic of acromegaly.
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| |-
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pituitary adenoma]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * [[Visual field defect]]s classically [[bitemporal hemianopsia]]
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| * Increased [[intracranial pressure]]
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| * [[Migraine]]
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| * [[Lateral rectus]] palsy
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| :*Elevated serum level of [[prolactin]]
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| :*Elevated or decreased serum level of [[adrenocorticotropic hormone]] (ACTH)
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| :*Elevated or decreased serum level of [[growth hormone]] (GH)
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| :*Elevated or decreased serum level of [[thyroid-stimulating hormone]] (TSH)
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| :*Elevated or decreased serum level of [[follicle-stimulating hormone]] (FSH)
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| :*Elevated or decreased serum level of [[luteinizing hormone]] (LH)
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| |-
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Hyperparathyroidism]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| * [[Kidney stone]]s
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| * [[Hypercalcemia]],
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| * [[Constipation]]
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| * [[Peptic ulcer]]s
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| * [[Depression]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * An elevated concentration of serum [[calcium]] with elevated [[parathyroid hormone]] level is diagnostic of primary hyperparathyroidism.
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| * Most consistent laboratory findings associated with the diagnosis of secondary hyperparathyroidism include elevated serum [[parathyroid hormone]] level and low to normal serum [[calcium]].
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| * An elevated concentration of serum [[calcium]] with elevated [[parathyroid hormone]] level in post [[Kidney transplantation|renal transplant]] patients is diagnostic of tertiary hyperparathyoidism.
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pheochromocytoma]]/[[paraganglioma]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| ''VHL''
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| ''RET''
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| ''NF1''
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| ''SDHB''
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| ''SDHD''
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Characterized by
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| * Episodic [[hypertension]]
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| * [[Palpitation]]s
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| * [[Anxiety]]
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| * [[Diaphoresis]]
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| * [[Weight loss]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.
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| |-
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| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Adrenocortical carcinoma]]
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| *p53
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| *Retinoblastoma h19
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| *Insulin-like growth factor II (IGF-II)
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| *p57<sup>kip2</sup>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17p, 13q
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * [[Cushing syndrome]] ([[cortisol]] hypersecretion)
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| * [[Conn syndrome]] ([[aldosterone]] hypersecretion)
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| * [[virilization]] ([[testosterone]] hypersecretion)
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
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| * Increased serum glucose
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| * Increased urine cortisol
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| * Serum androstenedione and dehydroepiandrosterone
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| * Low serum potassium
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| * Low plasma renin activity
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| * High serum aldosterone.
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| * Excess serum estrogen.
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| |-
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| | colspan="8" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013<ref name="pmid23917672">{{cite journal| author=Toledo SP, Lourenço DM, Toledo RA| title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts. | journal=Clinics (Sao Paulo) | year= 2013 | volume= 68 | issue= 7 | pages= 1039-56 | pmid=23917672 | doi=10.6061/clinics/2013(07)24 | pmc=PMC3715026 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23917672 }} </ref> </small>
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| |}
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| </small>
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| ===Differentiating from other diseases causing multiple polyps=== | | ==[[Cowden syndrome epidemiology and demographics|Epidemiology and Demographics]]== |
| {|
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| |- style="background: #4479BA; color: #FFFFFF; text-align: center;"
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| ! rowspan="2" |Diseases
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| ! colspan="3" |History and Symptoms
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| ! colspan="3" |Physical Examination
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| ! colspan="3" |Laboratory Findings
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| ! rowspan="2" |Other Findings
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| |- style="background: #4479BA; color: #FFFFFF; text-align: center;"
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| !Abdominal Pain
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| !Rectal Bleeding
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| !Fatigue
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| !Abdominal Tenderness
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| !Hyperpigmentation
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| !Anemia
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| !Gene(s)
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| !Gastrointestinal Tumors
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| !Cancers
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| |-
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| | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Cowden syndrome|'''Cowden Syndrome''']]
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| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
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| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
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| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
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| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
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| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
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| * [[Axillary]]+ [[Inguinal region|Inguinal]]+ [[Facial]]+
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| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
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| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
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| * [[PTEN (gene)|PTEN]]
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| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
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| * [[Adenoma]]+
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| * [[Hamartoma]]+++
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| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
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| * [[Breast]]
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| * [[Thyroid]]
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| * [[Endometrium]]
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| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
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| * [[Trichilemmoma]]
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| * Skin hamartoma
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| * Hyperplastic polyp
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| * Macrocephaly
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| * Breast fibrosis
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Familial Adenomatous Polyposis'''
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +/–
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| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
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| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
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| * [[APC (gene)|''APC'' gene]]
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| * [[MUTYH|''MUTYH'' gene]]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Adenoma]]+++
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Colon (anatomy)|Colon]]
| |
| * [[Brain]]
| |
| * [[Thyroid]]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Desmoid tumor]]
| |
| * [[Osteoma]]
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Peutz-Jeghers syndrome|'''Peutz–Jeghers syndrome''']]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" |
| |
| * [[STK11]] (LBK1) gene
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Adenoma]]+
| |
| * [[Hamartoma]]+++
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * Breast
| |
| * Lung
| |
| * Pancreas
| |
| * [[Ovaries]]
| |
| * Sertoli cells
| |
| * Uterine
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Juvenile polyposis syndrome|Juvenile Polyposis Syndrome]]'''
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" |
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * SMAD4
| |
| * [[BMPR1A]]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Adenoma]]+
| |
| * [[Hamartoma]]+++
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Colon (anatomy)|Colon]]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" |
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney Syndrome''']]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Facial]]+ [[Mucous membrane|Mucosal]]+
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[PRKAR1A]]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" |
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Thyroid]]
| |
| * [[Sertoli-Leydig cell tumor|Sertoli Cell]]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * Myxoma of [[skin]]
| |
| * Myxoma of [[heart]]
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Hereditary nonpolyposis colorectal cancer|'''Hereditary Non–Polyposis Colon Cancer''']]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +/–
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| |
| | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[MLH1]]
| |
| * [[MSH2]]
| |
| * [[MSH3]]
| |
| * [[MSH6]]
| |
| * [[PMS1]]
| |
| * [[PMS2]]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Adenoma]]+
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Endometrium]]
| |
| * [[Stomach]]
| |
| * [[Kidney|Kidneys]]
| |
| * [[Ureter]]
| |
| * [[Ovary|Ovaries]]
| |
| | style="background: #F5F5F5; padding: 5px; text-align: left;" |
| |
| * [[Sebaceous gland|Sebaceous]] [[adenoma]]
| |
| |}
| |
|
| |
|
| ==References== | | ==[[Cowden syndrome risk factors|Risk Factors]]== |
| {{reflist|2}}
| |
| * {{cite journal | author=de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH, Schaapveld M, de Vries EG | title=Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility | journal=J Med Genet | year=2002 | pages=225-42 | volume=39 | issue=4 | id=PMID 11950848}}
| |
| * {{cite journal | author=Eng C | title=Will the real Cowden syndrome please stand up: revised diagnostic criteria | journal=J Med Genet | year=2000 | pages=828-30 | volume=37 | issue=11 | id=PMID 11073535}}
| |
| * {{cite journal | author=Kelly P | title=Hereditary breast cancer considering Cowden syndrome: a case study | journal=Cancer Nurs | year=2003 | pages=370-5 | volume=26 | issue=5 | id=PMID 14710798}}
| |
| * {{cite journal | author=Pilarski R, Eng C | title=Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome | journal=J Med Genet | year=2004 | pages=323-6 | volume=41 | issue=5 | id=PMID 15121767}}
| |
| * {{cite journal | author=Waite KA, Eng C | title=Protean PTEN: form and function | journal=Am J Hum Genet | year=2002 | pages=829-44 | volume=70 | issue=4 | id=PMID 11875759}}
| |
| * {{cite journal | author=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 | title=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 | journal=Am J Hum Genet | year=2003 | pages=404-11 | volume=73 | issue=2 | id=PMID 12844284}}
| |
|
| |
|
| {{Phakomatoses and other congenital malformations not elsewhere classified}}
| | ==[[Cowden syndrome screening|Screening]]== |
|
| |
|
| [[de:Cowden-Syndrom]] | | ==[[Cowden syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| [[fr:Syndrome de Cowden]]
| |
| [[pl:Zespół Cowdena]]
| |
|
| |
|
| [[Category:Hereditary cancers]] | | ==Diagnosis== |
| [[Category:Rare diseases]] | | [[Cowden syndrome diagnostic study of choice|Diagnostic study of choice]] | [[Cowden syndrome history and symptoms|History and Symptoms]] | [[Cowden syndrome physical examination|Physical Examination]] | [[Cowden syndrome laboratory findings|Laboratory Findings]] | [[Cowden syndrome electrocardiogram|Electrocardiogram]] | [[Cowden syndrome x ray|X-Ray Findings]] | [[Cowden syndrome echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Cowden syndrome CT scan|CT-Scan Findings]] | [[Cowden syndrome MRI|MRI Findings]] | [[Cowden syndrome other imaging findings|Other Imaging Findings]] | [[Cowden syndrome other diagnostic studies|Other Diagnostic Studies]] |
| [[Category:Genetic Disease]] | | |
| {{WH}}
| | ==Treatment== |
| {{WS}}
| | [[Cowden syndrome medical therapy|Medical Therapy]] | [[Cowden syndrome surgery|Surgery]] | [[Cowden syndrome primary prevention|Primary Prevention]] | [[Cowden syndrome secondary prevention|Secondary Prevention]] | [[Cowden syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Cowden syndrome future or investigational therapies|Future or Investigational Therapies]] |
| | |
| | ==Case Studies== |
| | [[Cowden syndrome case study one|Case #1]] |