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Table 1 Presence of the diagnostic criteria of Cowden syndrome in proband according to US National Comprehensive Cancer Network (2008)

From: Challenges in the management of a patient with Cowden syndrome: case report and literature review

Pathognomonic criteria Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) no
  Mucocutaneous lesions (trichilemmomas, acral keratoses, papillomatous lesions, mucosal lesions) no
Major criteria Breast cancer no
  Thyroid cancer (especially follicular) no
  Endometrial cancer yes
  Macrocephaly (≥ 97% percentile) yes
Minor criteria Other thyroid lesions (e.g., adenoma, multinodular goiter) yes
  Mental retardation (IQ ≤ 75) no
  Gastrointestinal hamartomas yes
  Fibrocystic breast disease no
  Lipomas yes
  Fibromas no
  Genitourinary tumors (especially renal cell carcinoma) no
  Genitourinary structural malformations no
  Uterine fibroids no