Citation, DOI & article data
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:
- mucocutaneous lesions: present in >90% of cases
- gastrointestinal hamartomatous polyps (small and large bowel)
- glycogenic acanthosis
- thyroid abnormalities
- fibrocystic disease of the breast
- testicular lipomatosis 6
In addition to benign hamartoma formation, the syndrome carries a recognized increased risk of cancers 1 such as:
- breast cancer: develops in 30-50% of those with the syndrome
- thyroid cancer: develops in 5% of those with the syndrome, usually follicular
- CNS: dysplastic cerebellar gangliocytoma, occurs when in association with Lhermitte-Duclos disease (LDD)
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.
History and etymology
First described in 1963 by K M Lloyd and M Dennis with the surname of their first patient: Cowden 2.
- 1. Schweitzer S, Hogge JP, Grimes M et-al. Cowden disease: a cutaneous marker for increased risk of breast cancer. AJR Am J Roentgenol. 1999;172 (2): 349-51. AJR Am J Roentgenol (citation) - Pubmed citation
- 2. Hauser H, Ody B, Plojoux O et-al. Radiological findings in multiple hamartoma syndrome (Cowden disease): a report of three cases. Radiology. 1980;137 (2): 317-23. Radiology (abstract) - Pubmed citation
- 3. Srinivasa RN, Burrows PE. Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. AJNR Am J Neuroradiol. 2006;27 (9): 1927-9. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 4. Covarrubias DJ, Huprich JE. Best cases from the AFIP. Juvenile polyposis of the stomach. Armed Forces Institute of Pathology. Radiographics. 22 (2): 415-20. Radiographics (full text) - Pubmed citation
- 5. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J. Med. Genet. 2000;37 (11): 828-30. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 6. Woodhouse J & Ferguson M. Multiple Hyperechoic Testicular Lesions Are a Common Finding on Ultrasound in Cowden Disease and Represent Lipomatosis of the Testis. BJR. 2006;79(946):801-3. doi:10.1259/bjr/50628431 - Pubmed