What are the main symptoms of Cowden syndrome?
The main symptoms or features of Cowden syndrome (CS) include hamartomas, or non-cancerous tumor-like growths, and an increased risk to develop cancer.
People with CS have an increased risk for breast, uterine, and thyroid cancer. The risk for colorectal cancer, kidney cancer, and melanoma is also increased.
Hamartomas are most commonly found on the skin and mucous membranes, such as the inside of the mouth. These growths include both trichilemmomas (growths involving the hair follicle) and papillomatous papules (raised wart-like growths that can appear on the skin or inside the mouth). Acral keratoses (small, raised bumps on the upper surface of the hands or feet, nose, or ears), and palmoplantar keratoses (scaly spots on the palms and soles) are also common.
People with CS often have a larger head size (macrocephaly). A small number of people with this condition may have developmental delay or autism. Some people may also develop a hamartoma, or benign tumor, of the brain referred to as Lhermitte-Duclos disease.
Cowden syndrome. [Internet]. Genetics Home Reference. [Reviewed October 2019 ].Available from: https://ghr.nlm.nih.gov/condition/cowden-syndrome
PTEN Hamartoma Tumor Syndrome. [Internet]. Gene Reviews [updated June 2, 2016]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/