Cowden syndrome is a hereditary syndrome with development of benign and malignant tumors.


Inheritance: autosomal dominant with variable penetrance


Chromosome: 10q23


Gene affected: PTEN (MMAC1, DEP1), which is a tumor suppressor gene


The affected patient often presents as a young adult.


Clinical findings:

(1) multiple trichilemmomas, acral keratoses and papillomatous papules of the skin

(2) multiple colonic hamartomatous polyps

(3) goiter and benign tumors of the thyroid gland

(4) fibrocystic disease of the breast with or without fibroadenomas

(5) uterine leimomyomas in women

(6) macrocephaly (megaloencephaly) and/or mental retardation

(7) oral papillomas



(1) thyroid carcinoma

(2) carcinomas of the breast and/or uterus


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