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. 2012 Apr 30;2012:486402. doi: 10.1155/2012/486402

(d) PTHS (Only Cowden syndrome has diagnostic criteria). Cowden syndrome. Operational diagnosis: mucocutaneous lesion alone if: 6 or more facial papules, 3 or more trichilemmoma; cutaneous facial papules and oral mucosal papillomatosis; oral mucosal papillomatosis and acral keratosis, or 6 or more palmoplantar keratosis; or two or major criteria, including macrocephaly or adult Lhermitte-Duclos disease; or one major or three minor criteria; or four minor criteria

Pathognomic criteria Major criteria Minor criteria
Adult Lhermitte-Duclos Breast cancer Intellectual disability
Mucocutaneous lesions Thyroid cancer Other thyroid lesions
Macrocephaly GI hamartomas
Endometrial cancer Fibrocystic breast disease
Lipomas; fibromas
Genitourinary tumors or malformations

EIF4E (No diagnostic criteria).