PEUTZ-JEGHERS SYNDROME

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the association of mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps.

Onset of the pigmented macules is in infancy or early childhood.
A mutation in the STK11/LKB1 gene (a tumor-suppressor gene found on 19p13.3) is responsible for most cases.
The polyps may develop from the gastroesophageal junction down to the anus, with the small bowel the most commonly affected. Their malignant potential is low, approximately 2-3%.
Abdominal pain, melena and intussusception may result from these hamartomatous polyps.
There is an increased risk of developing gonadal sex tumors as well as other malignancies (relative risk approximately 9 in one study).

Clinical

Pigmented macules develop in infancy or early childhood on the lips and buccal mucosa. Pigmented macules of the palms, fingers and soles also occur.

Treatment

The majority of the care required is provided by the gastroenterologist. Routine monitoring and removal of larger or symptomatic polyps has been recommended. Routine surveillance for non-GI malignancies should also be done. The Q-switched ruby laser is effective for the lentigines.

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