The Peutz-Jeghers Syndrome is a rare hereditary condition (autosomal dominant inheritance) that usually begins in childhood.

This condition is the byproduct of hamartomatous polyps forming non-cancerous tumors in the digestive system.

The presence of melanin-pigmented skin lesions is the result of these growths (they mainly manifest in the face, in the mucosa of the mouth, hands, feet and the perianal and genital areas).

Except for oral pigmentation, macular lesions resembling freckles tend to fade during puberty.

The syndrome was described in 1921 by Jan Peutz, a Dutch physician who noted a relationship between the intestinal polyps and the mucocutaneous macules in a Dutch family.

However, the dermatologic aspect of the condition got described by John McHutchinson in 1896 in identical twins, one of who subsequently died from intussusception.

Despite being a hereditary condition, only half of the cases are family history. Its incidence is approximately 1 in 8,300 to 29,000 newborns.

In most patients, the first symptoms appear during childhood. It described in all races and all skin types.

Patients with this syndrome are at risk for intussusception, which is a common cause of death in the procedures.


Experts are not entirely sure about how many people the Peutz-Jeghers Syndrome affected around the world.

However, the National Institutes of Health (National Institutes of Health) estimate that affects about 1 in 25,000 to 300.000 births.

Researchers are making studies in how genetic mutations can potentially cause the Peutz-Jeghers Syndrome.

The current results of their studies indicate that some people who suffer from the Peutz-Jeghers Syndrome carry a mutation in the STK 11 gene, known as LKB1, which scientist located on the chromosome 19.

Usually, someone acquires this mutated gene through one of the parents. In fact, people with the Peutz-Jeghers Syndrome have a 50% chance of passing the mutation to each of their children.


The primary feature of this condition is the growth of hamartomatous polyps along the lining of the gastrointestinal tract.

These growths can develop into tumors if left untreated. And the impact of their activity inside the body becomes perceivable in several signs on different areas of the skin and even some forms of pain and discomfort:

  • Brown spots or grayish blue on the lips, gums, a lining of the mouth and flesh.
  • Fingers and toes are clubbing.
  • A feeling of cramping in the abdominal area.
  • The presence of Dark freckles on and around the lips of a newborn.
  • People can perceive blood in the stool that with the naked eye.
  • Vomiting.


People who may potentially have the Peutz-Jeghers Syndrome can have genetic counseling followed by genetic testing that includes a blood test to look for a mutation in the STK11 gene.

If medical experts find an STK11 gene mutation, they might have to examine other family members to verify or confirm whether or not any relatives have the same gene mutation.

Many experts recommend that patients with known or suspected Peutz-Jeghers Syndrome to get evaluated by a specialist to confirm the diagnosis and assist with appropriate medical management.


With all these data seems unquestionable the need for close monitoring of these patients.

More and more authors who advocate aggressive treatment and recommended:

  • Upper endoscopy and lower every two years starting at age 10.
  • Annual testicular examination from 10 years.
  • Exploration annual breast with mammography every 2-3 years, from 25 years.
  • Gynecological pelvic examination in women with annual ultrasound, from 20 years.
  • Abdominal and pancreatic ultrasound every 1-2 years, from 30 years.

In short, many studies confirm the high incidence of cancer in these patients and link JPS and diseases of the digestive tract, lung, breast, uterus and ovaries and its appearance at an early age.

Besides, the life of these patients could potentially get compromised by numerous surgical complications from polyps.

Therefore, it is committed to an aggressive approach to these patients, and even the removal of all polyps, regardless of size.


There may be a high risk that these polyps become more dangerous in time. Some studies link the Peutz-Jeghers Syndrome and a wide variety of conditions and potentially deadly diseases.

Possible Complications:

  • Intussusception
  • Ovarian Cysts

One notable risk factor is the Peutz-Jeghers Syndrome increasing the possibilities of developing several kinds of cancer, such as:

  • Stomach cancer.
  • Esophageal cancer.
  • Pancreatic cancer.
  • Colorectal cancer.
  • Breast cancer (in women’s cases).
  • Uterine cancer (only affects women).
  • Lung cancer (also known as lung carcinoma).