Cowden syndrome

Last revised by Rohit Sharma on 14 Feb 2024

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:

In addition to benign tumor formation, Cowden syndrome carries a recognized increased risk of multiple malignancies 1,7:

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:

First described in 1963 by K M Lloyd and M Dennis with the surname of their first patient: Cowden 2.

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Cases and figures

  • Case 1
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