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Table 3 Diagnostic criteria for Cowden syndrome

From: Cowden syndrome is a risk factor for multiple neoplasm: a case report

Criteria major

Criteria minor

Breast cancer

Colon cancer

Follicular thyroid cancer

Esophageal glycogenic acanthoses (≥ 3)

Endometrial cancer

Lipomas (≥ 3)

Multiple gastrointestinal hamartomas

Thyroid cancer (papillary or follicular variant of papillary)

Lhermitte-Duclos disease (adult)

Renal cell carcinoma

Macrocephaly (P ≥ 97)

Thyroid structural lesions (e.g., adenoma, nodule(s), goiter)

Macular pigmentation of glans penis

Intellectual disability (QI ≤ 75)

Mucocutaneous lesions:

Trichilemmoma (≥ 3 biopsy proven)

Acral keratoses (≥ 3 palmoplantar keratotic pits and/or acral hyperkeratotic papules)

Oral papillomas (particularly on tongue and gingiva), multiple (≥ 3), or biopsy-proven or dermatologist-diagnosed mucocutaneous neuromas (≥ 3)

Autism spectrum disorder

Testicular lipomatosis

Vascular anomalies (including multiple intracranial developmental venous anomalies)

  1. Adapted from https://www.nccn.org Copyright©2019