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Table 2 Diagnostic criteria proposed by the International Cowden Syndrome Consortium [9, 10]

From: PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review

Pathognomonic lesions highly specific for the Cowden syndrome (CS) include:

• Six or more facial papules (with at least 3 trichilemmomas)

• Facial cutaneous papules with papillomatosis of the oral mucosa

• Papillomatosis of the oral mucosa with acral keratosis

• Six or more palmoplantar patches of keratosis

Diagnosis of CS requires at least one of these pathognomonic lesions

Major criteria less specific for CS but are associated with a higher risk of cancer include:

• Breast carcinoma

• Thyroid carcinoma

• Macrocephaly (greater than 97%)

• Lhermitte-Duclos disease (LDD)

• Endometrial carcinoma

Diagnosis of CS requires at least two major criteria, with one of them being macrocephaly or LDD

Minor criteria even less specific for CS but still commonly seen in affected individuals include:

• Thyroid lesions (other than carcinoma)

• Learning difficulties or delayed development

• Gastrointestinal hamartomas

• Lipomas

• Fibromas

• Fibrocystic disease of the breast

• Genitourinary malformations or carcinoma

Diagnosis of CS requires at least four minor criteria

Additionally, one major criterion and three minor criteria may also indicate a diagnosis of CS