Table A1.
Clinical Operational Diagnostic Criteria for CS
| Criteria |
|---|
| Pathognomonic |
| Adult LDD (cerebellar tumors) |
| Mucocutaneous lesions |
| Trichilemmomas, facial |
| Acral keratoses |
| Papillomatous papules |
| Mucosal lesions |
| Major |
| Breast cancer |
| Thyroid cancer (nonmedullary) |
| Macrocephaly (megalocephaly; ie, ≥ 97th percentile) |
| Endometrial cancer |
| Minor |
| Other thyroid lesions (eg, adenoma, multinodular goiter) |
| Mental retardation (ie, IQ ≤ 75) |
| GI hamartomas |
| Fibrocystic breast disease |
| Lipomas |
| Fibromas |
| Genitourinary tumors (especially renal cell carcinoma) |
| Genitourinary malformations |
| Uterine fibroids |
| Operational diagnosis in individual |
| Any of following: |
| Mucocutaneous lesions alone, if ≥ six facial papules (three of which must be trichilemmomas) |
| Cutaneous facial papules and oral mucosal papillomatosis |
| Oral mucosal papillomatosis and acral keratoses |
| ≥ Six plamoplatar keratoses |
| ≥ Two major criteria (one of which must be macrocephaly or LDD) |
| One major and ≥ three minor criteria |
| ≥ Four minor criteria |
| Operational diagnosis in family where one individual is diagnostic for CS |
| Any one pathognomonic criterion |
| Any one major criteria ± minor criteria |
| Two minor criteria |
| History of Bannayan-Riley-Ruvalcaba syndrome |
Abbreviations: CS, Cowden syndrome; LDD, Lhermitte-Duclos disease.