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Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers.
Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden nevus when it is considered a type of epidermal nevus syndrome.
The disease is characterized by 7:
mucocutaneous lesions: present in >90% of cases
gastrointestinal hamartomatous polyps (small and large bowel)
In addition to benign tumor formation, Cowden syndrome carries a recognized increased risk of multiple malignancies 1,7:
breast cancer: develops in 30-50% of those with the syndrome
endometrial cancer: develops in 5-10% of those with the syndrome
It carries an autosomal dominant inheritance with variable (but high) penetrance 7. A gene locus for the disease has been identified on chromosome 10q22-23, a mutation of the PTEN gene 7.
Thus, Cowden syndrome is part of a group of disease known as PTEN-related diseases, which also includes 3,7:
History and etymology
First described in 1963 by K M Lloyd and M Dennis with the surname of their first patient: Cowden 2.