Cowden syndrome


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.