Cowden syndrome


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Cowden syndrome

or

Cowden disease

(koud′n)
n.
An autosomal dominant disorder characterized by the formation of benign growths especially on the skin and mucous membranes and an increased risk of developing malignancies in the breast, thyroid, and other organs. Also called multiple hamartoma syndrome.

Cowden syndrome

A rare autosomal dominant genodermatosis (OMIM:158350) characterised by multiple hamartomas arising from all three germ cell layers, most prominently from the ectoderm and endoderm, in particular hamartomas of skin and the GI tract (from the stomach to the colon) and an increased risk of cancer (e.g., breast, thyroid (papillary or follicular), uterus and osteosarcoma). Women with Cowden syndrome have up to a 50% lifetime risk of developing breast cancer; 75% have benign breast disease (fibroadenomas, fibrocystic changes).

Cowden disease

, Cowden syndrome (kowd'en) [ Cowden, family name of first patient described] Multiple hamartoma.

Cowden,

Rachel, the first patient to be described with this condition in 1963.
Cowden syndrome - an autosomal dominant syndrome characterized by multiple trichilemmomas occurring around the mouth, nose, and ears.
References in periodicals archive ?
Mutations in the PTEN gene are the foundation of Cowden syndrome.
Washington, Dec 23 (ANI): Scientists have revealed multiple genetic discoveries that may permit easier diagnosis and disease management for Cowden syndrome patients who are predisposed to breast and kidney cancer.
They found that KILLIN was a predisposition gene for Cowden syndrome and Cowden-like syndrome.
They analyzed nucleic acids in 123 patients with Cowden syndrome or Cowden-like syndrome and 50 unaffected subjects without PTEN variants for germline methylation and expression of PTEN or KILLIN from August 2008 to June 2010.
SAN ANTONIO -- Cowden syndrome is much more common than traditionally thought, Dr.
Cowden syndrome is notoriously difficult to diagnosis.
Cowden syndrome can be differentiated genetically from other inherited breast cancer syndromes, including Peutz-Jeghers syndrome and Li Fraumeni syndrome, by the high prevalence of PTEN mutations in the absence of LKB1 and TP53 mutations.
But the finding of multiple trichilemmomas around the mouth and nose is pathognomonic for Cowden syndrome, according to the geneticist.
A second dermatologic hallmark of Cowden syndrome is papillomas that produce a cobblestone appearance on the oral mucosa.
Cowden syndrome is a hereditary condition transmitted in autosomal dominant fashion.