Colon tumor
Familial polyposis syndromes of colon
Cowden syndrome

Topic Completed: 1 August 2015

Revised: 8 January 2019, last major update August 2015

Copyright: (c) 2002-2018,, Inc.

PubMed Search: Cowden syndrome [title]

Amber El-Halaby, M.D.
Raul S. Gonzalez, M.D.
Page views in 2018: 2,486
Page views in 2019 to date: 1,390
Cite this page: El-Halaby A. Cowden syndrome. website. Accessed June 17th, 2019.
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 (Figure 1)

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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