Colon (tumor & nontumor)
Cowden syndrome

Topic Completed: 1 August 2015

Minor changes: 30 July 2020

Copyright: 2002-2019,, Inc.

PubMed Search: Cowden syndrome [title]

Raul S. Gonzalez, M.D.
Page views in 2019: 3,224
Page views in 2020 to date: 1,885
Cite this page: El-Halaby A, Gonzalez R. Cowden syndrome. website. Accessed August 11th, 2020.
Definition / general
  • Cowden syndrome is one component of the PTEN Hamartomatous Tumor Syndrome, which also includes Bannayan-Riley-Ruvalcaba syndrome, PTEN related Proteus syndrome and proteus-like syndrome
  • Has autosomal dominant inheritance caused by mutations in PTEN and sometimes other genes
  • Causes benign hamartomatous overgrowths of skin, GI tract and thyroid
  • Also increases risk of malignancy of breast, thyroid, endometrium and colorectum
Clinical features
  • Gastrointestinal hamartoma found in 35% - 80% of patients; increased risk for colorectal cancer
  • Mucocutaneous lesions include trichilemmoma, acral keratosis, and oral papilloma
  • Macrocephaly; dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos disease)
  • Breast fibroadenoma, fibrocysttic disease and carcinoma
  • Thyroid goiter, adenoma and carcinoma
  • Increased risk for endometrial carcinoma
Case reports
Clinical images

Images hosted on other servers:

Feet, face, mouth

Facial papules

Microscopic (histologic) description
  • Colon polyps: nondysplastic epithelium, dilated glands, expanded stroma; histologically similar to juvenile polyps
Microscopic (histologic) images

Images hosted on other servers:

Juvenile polyp

Various images

Molecular / cytogenetics description
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