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Cowden syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Cowden Syndrome (CS) is a rare condition that is inherited in an autosomal dominant manner and is associated with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN)

  • incidence is estimated to be one in 250 000-1 000 000
  • is caused by loss of function mutations in the phosphatase and tensin homolog (PTEN) gene located on chromosome 10q23.1

  • clinical features of CS include macrocephaly; benign breast, thyroid and endometrial manifestations; and characteristic mucocutaneous lesions

  • CS patients have an increased risk of developing malignant lesions in many organs, especially cancer of the breast, thyroid and genitourinary system
    • lifetime cancer risk in CS patients and in individuals with germline PTEN mutations was reported to be up to 85% for breast cancer, up to 35% for thyroid cancer and up to 28% for endometrial cancer

A case report notes that Cowden syndrome is a rare presentation in pediatric age, but it should be suspected in case of macrocrania and developmental delay (3).


  • Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract. Res. Clin. Gastroenterol. 2009; 23: 219-23
  • Riegert-Johnson DL, Gleeson FC, Roberts M et al. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered. Cancer Clin. Pract. 2010; 8: 6.
  • Di Nora A, Pellino G, Di Mari A, Scarlata F, Greco F, Pavone P. Early is Better: Report of a Cowden Syndrome. Glob Med Genet. 2023 Nov 27;10(4):345-347.

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