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 ?
Because of the relevant surgical history and imaging appearance, suspicion for underlying Cowden syndrome was raised.
Mutations in the PTEN gene are the foundation of Cowden syndrome.
Will the real Cowden syndrome please stand up: revised diagnostic criteria.
A mutation in the PTEN gene was detected, and a diagnosis of Cowden syndrome was made.
Patients with Cowden syndrome and Cowden-like syndrome have mutations in the tumour suppressor PTEN gene.
Cowden syndrome is a rare disorder (occurring in about 1 in 200,000 live births) with characteristic juvenile polyps throughout the GI tract.
Cowden syndrome (multiple hamartoma syndrome), Dermatol Clin 1995;13:27-31.
Generalized BFH may represent generalized follicular hamartoma syndrome (Brown-Crounse syndrome), tuberous sclerosis, Cowden syndrome ("multiple hamartoma syndrome" involving organs from all 3 germinal layers), multiple trichoepitheliomas, NBCCS, Rombo syndrome (atrophoderma vermiculatum of the face, multiple milia, telangiectases, acral erythema, and a propensity to develop BCC), and multiple tumors of the follicular infundibulum.
While it is not known why people with Cowden syndrome develop different cancers, or cancers that are more severe in some than in others, the cause is often attributed to the natural genetic differences that exist between individuals.
Mutations of CHEK2 may double the risk of breast cancer, and--although extremely rare--inherited mutations of TP53 in families with Li-Fraumeni syndrome, and PTEN in families with Cowden syndrome are tied to high risk of early-onset breast cancer.
SAN ANTONIO -- Cowden syndrome is much more common than traditionally thought, Dr.
Women with Cowden syndrome have up to a 50% risk of breast cancer.