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 ?
Will the real Cowden syndrome please stand up: revised diagnostic criteria.
For the Kelly family, raising awareness of rare conditions such as Cowden Syndrome is almost as important as the cash they hope to raise for research.
The phenotypic spectrum of PTEN-related syndromes includes two allelic disorders linked to mutations in the PTEN gene: Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome [19].
Metzger et al., "Should patients with Cowden syndrome undergo prophylactic thyroidectomy?" Surgery, vol.
Recent efforts have focused on the relationship of Lhermitte-Duclos disease with Cowden syndrome, a phakomatosis characterized by a multigenic autosomal dominant inheritance pattern and manifesting with a variety of neuroectodermal derived neoplasms, both benign and malignant.
[8.] Albrecht S, Haber RM, Goodman JC, Duvic M: Cowden syndrome and Lhermitte-Duclos disease.
Acral popular neuromatosis: an early manifestation of Cowden syndrome. Br J Dermatol 2008;158:174-6.
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.
* Cowden syndrome. This autosomal dominant syndrome is a marker for the eventual development of breast cancer and thyroid rumors.
PTEN mutations are related to a variety of rare syndromes, collectively known as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and Proteus and related syndromes [5], although the latter association remains somewhat controversial [6, 7].
Cutaneous nodules are found in many other disorders, including Gardner syndrome, Cowden syndrome, multiple trichoepitheliomas, (32) basal cell nevus syndrome, (33) multiple keratoacanthomas, (34) and tuberous sclerosis (35) (Table).
Cowden syndrome is a serious genetic disorder characterized by multiple hemartomas usually of skin, but also of thyroid, G.I tract, Bones, CNS, Eyes and G.U tract Cowden's syndrome is considered part of PTEN hemartomas tumor syndrome (PHTS) which also includes Bannyan--Riley --Ruvalcaba syndrome, proteus syndrome, and proteus--like syndrome.