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
- Presence of hamartomatous polyps in the gastrointestinal tract
- Mucocutaneous hyperpigmentation in the oral mucosa (gingiva, hard palate, buccal mucosa, and labial mucosa) and on the hands and feet.
- The oral hyperpigmented lesions are usually the first lesions to appear and thus play an important part in the early diagnosis.