Summary
Cowden syndrome is an autosomal dominant disorder characterized by multiple hamartomas (occurring in the skin, breast, thyroid, gastrointestinal tract, endometrium and brain), and an increased risk of malignant tumors (breast, endometrial and thyroid cancer). Skin is involved in 90-100% of cases (trichilemmomas, oral mucosal papillomatosis, acral keratoses and palmoplantar keratoses). The exact prevalence is unknown, the estimated prevalence is 1 in 200,000. Cowden syndrome results most commonly from a mutation in the PTEN (phosphatase and tensin homolog) gene at locus 10q23.2. Management is aimed primarily at early detection of malignant conditions. *Author: Orphanet (February 2006)*.
