Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden’s disease

Table 1 Proposed diagnostic criteria for Cowden's disease

Proposed diagnostic criteria for Cowden's disease
Major clinical criteria
Cutaneous facial papules
Oral mucosal papillomatosis
Minor clinical criteria
Acral keratosis
Palmoplantar keratoses
Family history of Cowden’s disease
Definite: 1a+1b,(1a or 1b)+(2a or 2b)
(1a or 1b)+3, 2a+2b+3
Probable: 1a or 1b, (2a or 2b)+3
Possible: 2a and/or 2b

Table 2 Criteria of international Cowden Consortium (Verion 2000) for Cowden's disease

Pathognomonic criteria

Mucocutaneous lesions

Trichilemmomas, facial

Acral keratoses

Papillomatous papules

Mucosal lesions

Major criteria

Breast carcinoma

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

Macrocephaly (megalencephaly) (say, 95th centile)

Lhermitte-Duclos disease (LDD)

Endometrial carcinoma

Minor criteria

Other thyroid lesions (eg, adenoma or multinodular goitre)

Mental retardation (say, IQ 75)

GI hamartomas

Fibrocystic disease of the breast

Lipomas

Fibromas

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

Operational diagnosis in a person

Mucocutaneous lesions alone if:

There are 6 or more facial papules, of which 3 or more must be trichilemmoma, or

Cutaneous facial papules and oral mucosal papillomatosis, or

Oral mucosal papillomatosis and acral keratoses, or

Palmoplantar keratoses, 6 or more

2 major criteria but one must include macrocephaly or LDD

1 major and 3 minor criteria

4 minor criteria

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

The pathognomonic criterion/ia

Any one major criterion with or without minor criteria

Two minor criteria