Cowden syndrome

Last author update: 16 April 2021
Last staff update: 26 April 2022

Copyright: 2002-2024,, Inc.

PubMed Search: Cowden syndrome [title]

Raul S. Gonzalez, M.D.
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Cite this page: Petrolla A, Gonzalez RS. Cowden syndrome. website. Accessed July 13th, 2024.
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
Essential features
  • Syndrome with 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; may also show intramucosal lipomas (Mod Pathol 2018;31:643)
Microscopic (histologic) images

Images hosted on other servers:

Juvenile polyp

Polyps with mildly dilated glands

Molecular / cytogenetics description
Board review style question #1
Cowden syndrome is caused by a germline mutation in what gene?

  1. BMPR1A
  2. KRAS
  3. PTEN
  4. STK11
Board review style answer #1

Comment Here

Reference: Cowden syndrome
Board review style question #2

In addition to hamartomatous polyps, NOS (as pictured), which of the following colonic lesions suggests the possibility of Cowden syndrome?

  1. Ganglioneuromatosis
  2. Gastric heterotopia
  3. Intramucosal lipoma
  4. Schwann cell hamartoma
Board review style answer #2
C. Intramucosal lipoma

Comment Here

Reference: Cowden syndrome
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