Peutz-Jeghers syndrome

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Peutz-Jeghers, 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. Restated, Peutz-Jeghers syndrome is characterized by hyperpigmented macules on the lips and oral mucosa and polyposis of the small intestine.[1]:857

The three main criteria for diagnosis are:

Having 2 of the 3 listed criteria indicates a positive diagnosis. The oral findings are consistent with other conditions, such as Addison’s disease and McCune-Albright syndrome, and these should be included in the differential diagnosis. Definitive diagnosis requires a histological sample of a polyp.

In 1998, a gene was found to be associated with the mutation. On chromosome 19, the gene known as STK11 (LKB1)[2] is a possible tumor suppressor gene. It is inherited in an Autosomal Dominant pattern (see Mendelian inheritance) which means that anyone who has PJS has a 50% chance of passing it onto their children.

The risks associated with this syndrome include a strong tendency of developing cancer in multiple sites[3]. While the harmartomatous polyps themselves do not have malignant potential, patients with the syndrome have an increased risk of developing carcinomas of the pancreas, liver, lungs, breast, ovaries, uterus and testicles.

The average age of first diagnosis is 23, but the lesions can be identified at birth by an astute pediatrician. Prior to puberty, the mucocutaneous lesions can be found on the palms and soles. Often the first presentation is as a bowel obstruction from an intussusception which is a common cause of mortality; an intussusception is a telescoping of one loop of bowel into another segment.

Most of the data regarding this disorder are from selected family lines and thus the risks endured by those families regarding outcomes may not translate completely to the patient without a familial history.

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