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Table 3 Diagnostic criteria for recognising hamartomatic polyposities[8, 47]

From: Hamartomatous polyposis syndromes

Syndrome of hamartomatous polyposities Diagnostic criteria
Juvenile polyposis • Numerous juvenile polyps (at least 3) in the large bowel and the rectum
• Any number of juvenile polyps in patients with familial course of the disease
• Juvenile polyps outside the colon (in the stomach or the small bowel) [8].
Peutz–Jeghers syndrome • Three or more histologically confirmed polyps
• Any number of polyps characteristic of PJS in patients with a burdened family anamnesis
• Typical melanotic dermomucosal lesions in patients with a burdened family anamnesis
• Any number of polyps typical for PJS and typical melanotic dermomucosal lesions
Cowden’s syndrome Symptomatic criteria:
Dermomucosal lesions
• Trichilemmal cysts
• Acral papilla
• Papillary lesions
• Lesions in mucous membranes
Major criteria:
Breast cancer
Thyroid carcinoma (particularly follicular)
Macrocephaly (frontal-occipital circumference of the skull ≥ 97 percentiles)
Cerebellar dysplastic ganglioma
Endometrial carcinoma
Minor criteria:
Other thyroid lesions (e.g. enlargement of thyroid gland)
Mental retardation (IQ ≤ 75), hamartomatous polyps
Fibrocystic mammary dysplasia
Cancers of urogenital organs
Syndrome of mixed polyposity Lack of defined diagnostic criteria for the syndrome
Diagnosis is based on manifestation of numerous polyps of a variable histopathological type