Peutz-Jeghers syndrome diagnostic study of choice

Peutz-Jeghers syndrome Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]

Overview

Peutz-Jeghers syndrome is diagnosed if the patient presented with two of the three major clinical criterions (family history, mucocutaneous pigmentation, and hamartomatous polyps)

Diagnostic Criteria

Peutz-Jeghers syndrome is diagnosed if the patient presented with two of the following three major clinical criterions:

• Family history
• Mucocutaneous pigmentation causing patches of hyperpigmentation in the oral mucosa (gingiva, hard palate, buccal mucosa, and labial mucosa) and on the hands and feet. The oral pigmentations are the first on the body to appear, and thus play an important part in early diagnosis
• Hamartomatous polyps in the gastrointestinal tract