Pathognomonic criteria |
Mucocutaneous lesions |
Trichilemmomas, facial |
Acral keratoses |
Papillomatous papules |
Mucosal lesions |
Major criteria |
Breast carcinoma |
Thyroid carcinoma (non-medullary), especially follicular thyroid carcinoma |
Macrocephaly (megalencephaly) (say, 95th centile) |
Lhermitte-Duclos disease (LDD) |
Endometrial carcinoma |
Minor criteria |
Other thyroid lesions (eg, adenoma or multinodular goitre) |
Mental retardation (say, IQ 75) |
GI hamartomas |
Fibrocystic disease of the breast |
Lipomas |
Fibromas |
GU tumours (e.g. renal cell carcinoma, uterine fibroids) or malformation |
Operational diagnosis in a person |
Mucocutaneous lesions alone if: |
There are 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 |
Palmoplantar keratoses, 6 or more |
2 major criteria but one must include macrocephaly or LDD |
1 major and 3 minor criteria |
4 minor criteria |
Operational diagnosis in a family where one person is diagnostic for Cowden syndrome |
The pathognomonic criterion/ia |
Any one major criterion with or without minor criteria |
Two minor criteria |