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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
Adenomas
Fibromas
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