Cowden syndrome

Last revised by Daniel J Bell on 14 Oct 2021

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:

In addition to benign hamartoma formation, the syndrome carries a recognized increased risk of cancers 1 such as:

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

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.

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 2: with thyroid lesion, thigh hemangioma, Lhermitte Duclos lesion
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