Cowden

Cowden syndrome is a rare, autosomal dominant inherited disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Signs and Symptoms[edit | edit source]

Individuals with Cowden syndrome may experience a variety of symptoms, including macrocephaly (large head size), trichilemmomas (small, benign skin tumors), acral keratoses (small, hard bumps that are commonly found on the hands and feet), papillomatous papules (small, benign, wart-like growths), and mucocutaneous lesions (abnormalities of the skin and mucous membranes).

Causes[edit | edit source]

Cowden syndrome is caused by mutations in the PTEN gene. This gene provides instructions for making an enzyme that is part of a chemical pathway that signals cells to stop dividing and triggers cells to self-destruct (a process called apoptosis). Mutations in the PTEN gene disrupt these functions, leading to the formation of hamartomas and increasing the risk of developing cancer.

Diagnosis[edit | edit source]

Diagnosis of Cowden syndrome is based on clinical criteria, known as the National Comprehensive Cancer Network (NCCN) criteria. Genetic testing can also be used to identify mutations in the PTEN gene.

Treatment[edit | edit source]

There is currently no cure for Cowden syndrome. Treatment is focused on managing symptoms and reducing the risk of cancer. This may include regular screening for cancer, surgical removal of hamartomas, and medications to manage symptoms.

References[edit | edit source]

Cowden Resources
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