Cowden syndrome

Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers.

Terminology

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.

Pathology

The disease is characterized by:

In addition to benign hamartoma formation, the syndrome carries a recognized increased risk of cancers  such as:

Syndromic associations

Cowden syndrome is part of a group of disease known as PTEN-related diseases, which also includes:

Genetics

It carries an autosomal dominant inheritance with variable penetrance. A gene locus for the disease has been identified on chromosome 10q22-23, a mutation of the PTEN gene.

History and etymology

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