Peutz-Jeghers syndrome diagnostic study of choice
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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
The diagnosis of Peutz-Jeghers syndrome is made when at least 2 of the following 3 diagnostic criteria are met: positive family history, mucocutaneous pigmentation, and presence of hamartomatous polyps
Diagnostic Criteria
The diagnosis of Peutz-Jeghers syndrome is made when at least 2 of the following 3 diagnostic criteria are met:
- Positive 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
- Presence of hamartomatous polyps in the gastrointestinal tract