Table 1 International Cowden Syndrome Consortium operational criteria (version 2000) as given by Charis Eng [2]

   Trichilemmomas, facial

   Acral keratoses

   Papillomatous papules

   Mucosal lesions

Major criteria

   Breast carcinoma

   Thyroid carcinoma (non-medullary), especially follicular thyroid carcinoma

   Macrocephaly (megalencephaly) (say > 97 percentile)

   Lhermitte-Duclos disease

   Endometrial carcinoma

Minor criteria

   Other thyroid lesions (e.g. adenoma or multinodular goitre)

   Mental retardation

   Gastrointestinal hamartomas

   Fibrocystic disease of the breast

   Lipomas

   Fibromas

   Gastrointestinal tumours (e.g. renal cell carcinoma, uterine fibroids) or malformation

Operational diagnosis in an individual

   1. Mucocutaneous lesions alone if

a. there are six or more facial papules, of which three or more must be trichilemmoma, or

b. cutaneous facial papules and oral mucosal papillomatosis, or

c. oral mucosal papillomatosis and acral keratoses, or

d. palmo-plantar keratoses, 6 or more

   2. Two major criteria but one must include macrocephaly or LDD

   3. One major and three minor criteria

   4. Four minor criteria

Operational diagnosis in a family where one individual is diagnostic for Cowden syndrome

   1. The pathognomonic criterion/criteria

   2. Any major criterion with or without minor criteria

   3. Two minor criteria