International Cowden Consortium operational diagnostic criteria (version 2000)

Pathognomonic criteria:

  • Mucocutaneous lesions
    • Trichilemmomas (facial)
    • Acral keratoses
    • Papillomatous papules
    • Mucosal lesions

Major criteria:

  • Breast cancer
  • Thyroid cancer (especially follicular)
  • Macrocephaly (>97th percentile)
    Endometrial carcinoma
  • Lhermitte-Duclos disease (LDD), defined as presence of a cerebellar dysplastic gangliocytoma

Minor criteria:

  • Other thyroid lesions (for example, goiter or nodule)
  • Mental retardation
  • Hamartomatous intestinal polyps
  • Lipomas
  • Fibrocystic breast disease
  • Fibromas
  • Genitourinary tumors (for example uterine fibroids, renal cell carcinoma) or malformations

Requirements for Diagnosis

  • Mucocutaneous lesions if:
    • 6 or more facial papules (of which 3 or more must be trichilemmoma), or
      Cutaneous facial papules and oral mucosal papillomatosis, or
    • Oral mucosal papillomatosis and acral keratoses, or
    • 6 or more palmoplantar keratoses
  • Two or more major criteria met (one must be macrocephaly or LDD)
  • One major criteria and three minor criteria
  • Four minor criteria

For individuals with a family member diagnosed with CS

  • A pathognomonic mucocutaneous lesion
  • Any one major criteria with or without minor criteria
  • Two minor criteria