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 |