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Peutz-Jeghers Syndrome : Clinical & Gross

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Clinical Presentation: In Peutz-Jeghers syndrome (PJS), the median age at presentation is about 11 years. Mucocutaneous hyperpigmentation consists of dark blue, green blue or brown melanin deposits around lips, nose, mouth, buccal mucosa, hands and feet, genitalia, and perianal region. The presence of pigmentation on buccal mucosa distinguishes PJS from freckles. Except for buccal mucosa, the pigmentation at other sites slowly fades away by puberty.

Peutz-Jeghers intestinal polyps are large, pedunculated and have lobulated contours (as shown here). They are most commonly seen in small intestine and less often in colon and stomach. Rare sites include lungs and urinary bladder. They progressively increase in size and can cause intestinal obstruction or intussusception which may be fatal. Acute gastrointestinal bleeding or chronic fecal blood loss can produce additional complications.

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