How is Cowden Syndrome Diagnosed?

Physicians diagnose Cowden syndrome using a combination of criteria that were originally set by the International Cowden Syndrome Consortium and have been slightly revised over time. The various features are grouped into three categories: the pathognomonic criteria, the major criteria, and the minor criteria. Pathognomonic criteria are the most likely features to be associated with a condition. The major and minor criteria consist of related features that are not as specific to CS. The categories help to define when a patient really has CS instead of another condition that may have similar features. Your doctor, or a genetic specialist, can look at the features you have and compare them to the diagnostic criteria when deciding if CS is a likely possibility. An individual does not need to have all the features in every category to be diagnosed with CS, nor does someone necessarily have CS when they have only one feature from any or all of the categories. When making this diagnosis, it is more important to look at all of the features an individual experiences over time.

CS Categories:

  • Pathognomonic criteria
  • Mucocutaneous lesions
  • Facial trichilemmomas
  • Acral keratoses
  • Papillomatous lesions

Major criteria

  • Breast cancer
  • Thyroid cancer
  • Macrocephaly
  • Lhermitte-Duclos disease
  • Uterine (endometrial) cancer

Minor criteria

  • Structural thyroid diseases (such as goiter or adenomas)
  • Mental retardation/developmental delay
  • Gastrointestinal hamartomas or benign tumors
  • Fibrocystic Breast Disease
  • Lipomas
  • Fibromas

Nelen, M. R., G. W. Padberg, et al. (1996). Localization of the gene for Cowden disease to 10q22-23. Nature Genetics 13: 114-116
* Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000:37:828-830

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