Cowden syndrome

Overview

What is Cowden syndrome?

Cowden syndrome (CS) is a genetic condition in which people have an increased risk for certain types of cancer, including breast, uterine, thyroid, and other cancers.

Cowden syndrome is characterized by multiple hamartomas, or non-cancerous tumor-like growths. There are certain skin findings associated with Cowden syndrome. These skin findings include both trichilemmomas (growths involving the hair follicle) and papillomatous papules (raised growths on the face). People with CS often have a larger head size (macrocephaly; head circumference >97th percentile). A small number of people with this condition may have developmental delay or autism. Some people may also develop a hamartoma, or benign tumor, of the brain referred to as Lhermitte-Duclos disease.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/cowden-syndrome/overview/3588 • DATE UPDATED: 2016-07-04

References

http://ghr.nlm.nih.gov/condition/cowden-syndrome

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