Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients

Table 1 Diagnostic criteria for Cowden syndrome in individuals without a family history

Pathognomonic criteria	Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) Mucocutaneous features: Six or more facial papules, ≥3 must be trichilemmomas, or Cutaneous facial papules and oral mucosal papillomatosis, or Oral mucosal papillomatosis and acral keratoses, or Six or more palmo-plantar keratoses
Major criteria	Breast cancer Thyroid cancer (especially follicular) Endometrial cancer Macrocephaly (≥ 97% percentile)
Minor criteria	Other structural thyroid lesions (for example, multinodular goiter) Mental retardation (IQ ≤ 75) Gastrointestinal hamartomas Fibrocystic breast disease Lipomas Fibromas Genitourinary tumors (examples include, uterine fibroids and renal cell carcinoma) Genitourinary structural malformations

Diagnostic criteria for Cowden syndrome is met in individuals without a family history if there are any of the following: 1) Adult Lhermitte-Duclos disease or the required mucocutaneous features; 2) Two major criteria 3) One major and three minor criteria; 4) Four minor criteria. Adapted from Eng [15]. See Eng for complete criteria.

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