Colon tumor
Familial polyposis syndromes of colon
Cowden syndrome

Author: Amber El-Halaby, M.D. (see Authors page)
Editor: Raul Gonzalez, M.D.

Revised: 18 September 2018, last major update August 2015

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

PubMed Search: Cowden syndrome [title]

Cite this page: El-Halaby, A. Cowden syndrome. website. Accessed December 11th, 2018.
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