USMLE

Peutz-Jeghers Syndrome

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Peutz-Jeghers Syndrome is an autosomal dominant disorder characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract.

The disease is caused by a mutation in STK11, which is a tumor suppressor gene. Patients present with numerous hamartomatous polyps in the GI tract, which can lead to intussusception (telescoping of the bowel). Other notable findings include hyperpigmented spots on the mouth/lips, hands, and genitalia.

Complications include increased risk for breast and GI cancers (via malignant transformation of hamartomas).

Find this Peutz-Jeghers Syndrome mnemonic and more Polyposis mnemonics among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.