Case Report
Copyright ©2013 Baishideng Publishing Group Co.
World J Gastrointest Oncol. Feb 15, 2013; 5(2): 34-37
Published online Feb 15, 2013. doi: 10.4251/wjgo.v5.i2.34
Table 1 2008 National comprehensive cancer network diagnostic criteria for Cowden syndrome
Pathognomonic criteria
Lhermitte-duclos disease-adult
Mucocutaneous lesions
Trichilemmomas, facial
Acral keratoses
Papillomatous lesions
Major criteria
Breast cancer
Thyroid cancer (papillary or follicular)
Macrocephaly (≥ 97% ile)
Endometrial cancer
Minor criteria
Other structural thyroid lesions (e.g., adenoma, multinodular goiter)
Mental retardation (i.e., intelligence quotient ≤ 75)
Gastrointestinal hamartomas
Fibrocystic disease of the breast
Genitourinary tumours (e.g., uterine fibroids, renal cell carcinoma) or
genitourinary structural malformations
Uterine fibroids
Operational diagnosis in an individual (any of the following)
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
Palmoplantar keratoses, six or more
Two or more major criteria, but one must include macrocephaly or lhermitte-duclos disease
One major and three minor criteria; or
Four minor criteria
Operational diagnosis in a family where one individual is diagnostic for Cowden
One pathognomonic criterion
Any one major criterion with or without minor criteria
Two minor criteria
History of Bannayan-Riley-Ruvalcaba syndrome