Diagnostic criteria

The following criteria are recommended: (1) three or more histologically confirmed Peutz-Jeghers polyps, or (2) any number of Peutz-Jeghers polyps with a family history of PJS, or (3) characteristic, prominent, mucocutaneous pigmentation with a family history of PJS, or (4) any number of Peutz-Jeghers polyps and characteristic, prominent, mucocutaneous pigmentation.

Some melanin pigmentation is often present in unaffected individuals, hence

Fig. 4.05 Peutz-Jeghers syndrome. Pigmentation of lips, peri-oral skin, tongue and fingers.

the emphasis on the prominence of the pigmentation.

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