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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cowden syndrome


Other Names for this Disease
  • CD
  • Cowden disease
  • Cowden's disease
  • CS
  • MHAM
More Names
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Tests & Diagnosis


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How is Cowden syndrome diagnosed?

Diagnostic criteria for Cowden syndrome have been developed [1], and are grouped into three separate catagories:

Pathognomonic criteria:

  • Adult Lhermitte-Duclos disease (LDD), defined as the presence of a cerebellar dysplastic gangliocytoma
  • Mucocutaneous lesions:
    • Trichilemmomas (facial)
    • Acral keratoses (thickened area of skin that may be red, yellow, or brown)
    • Papillomatous lesions
    • Mucosal lesions

Major criteria:

  • Breast cancer
  • Thyroid cancer (non-medullary), especially follicular thyroid epithelial cancer
  • Macrocephaly (head circumference 97th percentile)
  • Endometrial carcinoma

Minor criteria:

A clinical diagnosis of Cowden syndrome is made if an individual meets any one of the following combinations:

  • Pathognomonic mucocutaneous lesions alone if there are:

    • Six or more facial papules, of which three or more must be trichilemmoma, or
    • Cutaneous facial papules and oral mucosal papillomatosis, or
    • Oral mucosal papillomatosis and acral keratoses, or
    • Six or more palmo-plantar keratoses

OR

  • Two or more major criteria
    OR
  • One major and at least three minor criteria
    OR
  • At least four minor criteria
Last updated: 10/23/2012

References
  1. Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. May 5, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1488/. Accessed 5/18/2011.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.