Peutz-Jeghers Syndrome

Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa. Peutz–Jeghers syndrome has an incidence of approximately 1 in 25,000 to 300,000 births. (From Wikipedia)

 

Image from Hshsl.umaryland.edu (link)

The main criteria for clinical diagnosis are:

  • Family history
  • Mucocutaneous lesions causing patches of hyperpigmentation in the mouth and on the hands and feet. The oral pigmentations are the first on the body to appear (see above), and thus play an important part in early diagnosis. Intraorally, they are most frequently seen on the gingiva, hard palate and inside of the cheek. The mucosa of the lower lip is almost invariably involved as well.
  • Hamartomatous polyps in the gastrointestinal tract. These are benign polyps with an extraordinarily low potential for malignancy. (adapted from wikipedia)
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