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Cowden Syndrome

cowden syndrome
Atefa Noorain
Atefa Noorain
July22/ 2016

Cowden syndrome also called as multiple hamartoma syndrome. Hamartoma are non cancerous tumour like growth found mainly in skin, mucous membranes like mouth, nasal membrane and gastrointestinal tract. People with Cowden syndrome are at high risk of breast cancer, thyroid cancer, kidney cancer and ovarian cancer. Cowden is a part of the PTEN hamartoma tumour syndrome. PTEN gene stands for “phosphatase and tensin homolog” that undergoes mutation leading to Cowden syndrome. Cowden syndrome can be categorized as both benign and cancerous tumour.

Cowden syndrome is associated with an increased risk of developing different types of cancers like breast cancer, thyroid cancer and colorectal cancer. Hematoma is also found in other diseases like Bnnayan- Riley-Ruvalcaba syndrome. Cowden syndrome is a very rare disorder. 1 in 200,000 people are known to suffer with Cowden syndrome.


Genetic changes are the leading cause of Cowden syndrome. Four genes are generally involved and are found in Cowden syndrome patients. PTEN, SDHB, SDHD and KLLN have been diagnosed in people suffering with Cowden syndrome. PTEN produces tumour suppressor gene and mutation in PTEN gene results in absence of production of PTEN protein.

Mutation in PTEN gene prevents the protein from regulatory cell proliferation. The second most important gene responsible for Cowden syndrome is KLLN gene. KLLN gene produces the protein called killin. Cownden syndrome is an inherited disorder and one copy of altered gene in each cell is sufficient to cause Cowden syndrome and Cowden syndrome can be caused by both old and new mutations.

PTEN protein is known to promote cell death. Mutation in genes results in loss of protein functions and results in over proliferation of cells resulting in hamartomatous growth.


Symptoms are different in each patient suffering with Cowden syndrome. About 90% of Cowden syndrome cases are experience in the people between 18-20 years of age. The most common symptoms include:

  • Benign lesions of skin and mucosa
  • Oral lesions
  • Acral keratosis
  • Palmoplantar keratosis
  • Facial papules


More than 300 cases of Cowden syndrome have been reported globally. The symptoms are generally overlooked which results in poor diagnosis and death of the patients.  Mortality rate has been increased in Cowden syndrome or multiple hamartoma syndrome patients as it is associated with increased frequency of malignant tumours.

Males and females often inherit same number of mutatated gene and these genes are referred to as autosomal dominant. Cowden syndrome is experienced in patients between 0 to 46 years of age.


Patients suffering with Cowden disease need to undergo medical and physical examination. Radiographic tests on a yearly basis should be done to check the presence of tumours.

Treatment of Cowden syndrome includes:

  • Oral retinoid – Oral retinoid helps in temporarily controlling the lesions. Lesions may reappear after the treatment. Thus oral retinoid does not completely cure Cowden syndrome.
  • Surgery – Surgical care can be provided in severe cases to remove the lesions. Laser techniques or laser surgery can be done to remove the lesions from the affected areas.

Atefa Noorain
Atefa Noorain

Atefa Noorain, (Microbiologist) former Head of the Department of Life Sciences, Assistant Professor of Microbiology at Sujatha Degree College for Women. She worked as an Associate Research Analyst at Thomson Reuters and an Associate Editor of two research journals. She has presented her research work in 3 International Conferences. She has written articles for national journals and international journals. She had been felicitated as a Young Speaker in the last conference. She has worked on Nanoparticles as a part of her research project and won the Best Scientist of the Day award.

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