Course : MOC Part IV: Assessment for the possibility of Cowden Syndrome

Cowden syndrome (also called Cowden disease or multiple hamartoma syndrome), is an autosomal dominant rare hereditary cancer syndrome condition that occurs most commonly (80%) from a mutation in the PTEN gene on chromosome 10q23. Clinical features include trichilemmomas, macrocephaly, mucocutaneous papillomatous papules, palmoplantar keratoses and an increased risk of malignancies including breast, thyroid, endometrial, skin, renal and colon carcinomas. Patients with Cowden syndrome have a 35% lifetime risk for thyroid cancer, a 35% lifetime risk for renal cell carcinoma and a lifetime risk of cutaneous melanoma of >5%.  Females with Cowden syndrome have an 85% lifetime risk of developing breast cancer (average age of diagnosis is 38-46 years), and up to 28% lifetime risk for endometrial cancer. Benign multinodular goiter of the thyroid, uterine fibroids, benign breast disease and gastrointestinal polyps are also common in Cowden syndrome. Mutations in three other genes (SDHB, SDHD, and KLLN) have been identified in patients with Cowden syndrome or Cowden-like syndrome, in addition to the PTEN gene.

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