Diffuse intestinal ganglioneuromatosis an uncommon manifestation of Cowden syndrome

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

Lipomas

Fibromas

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