International Cowden Consortium operational criteria for the diagnosis of Cowden syndrome. Ver 2000
| Pathognomonic criteria | Major criteria | Minor criteria |
|---|---|---|
| Mucocutaneous lesions: | Breast cancer | Other thyroid lesions (for example, goitre) |
| Trichilemmomas, facial | Thyroid cancer, especially follicular thyroid cancer | Mental retardation (IQ⩽75) |
| Acral keratoses Papillomatous lesions | Macrocephaly (occipital frontal circumference ⩾97th percentile) | Hamartomatous intestinal polyps Fibrocystic disease of the breast |
| Mucosal lesions | Lhermitte-Duclos disease, defined as presence of a cerebellar dysplastic gangliocytoma | Lipomas Fibromas |
| Endometrial carcinoma | Genito-urinary tumours (for example, uterine fibroids, renal cell carcinoma) or genito-urinary malformation |
| An operational diagnosis of Cowden syndrome is made if an individual meets any one of the following criteria: | ||
|---|---|---|
| 1) Pathognomic mucocutaneous lesions alone if there are: | ||
| Six or more facial papules, of which three or more must be trichilemmoma, or | ||
| Cutaneous facial papules and oral mucosal papillomatosis, or | ||
| Oral mucosal papillomatosis and acral keratoses, or | ||
| Six or more palmo plantar keratoses | ||
| 2) Two major criteria but one must be either macrocephaly or Lhermitte-Duclos disease | ||
| 3) One major and three minor criteria | ||
| 4) Four minor criteria | ||
| In a family in which one individual meets the diagnostic criteria for Cowden syndrome, other relatives are considered to have a diagnosis of Cowden syndrome if they meet any of the following criteria: | ||
|---|---|---|
| 1) A pathognomonic mucocutaneous lesion | ||
| 2) Any one major criterion with or without minor criteria | ||
| 3) Two minor criteria |