Peutz-Jeghers Syndrome – Pictures, Symptoms, Life Expectancy

What is Peutz-Jeghers Syndrome?

Peutz-Jeghers Syndrome is otherwise termed as ‘hereditary intestinal polyposis syndrome’. It is a rare kind of disorder. It is an inherited dominant autosomal kind of disorder. It has a characteristic of having a pigmentation of the mucosal which is found in the person’s gums and lips with high risk of cancer and many intestinal polyps.

Some experts would say that it has a characteristic of hamartomatous kind of polyps which are benign in nature and is located at the GIT or the gastrointestinal tract. Along with that, the other characteristic of this syndrome is that the person has macules that are hyperpigmented on the person’s oral mucosa and on his or her lips.

Peutz-Jeghers Syndrome pictures

Peutz-Jeghers Syndrome Showing Polyps in the GIT

Symptoms of Peutz-Jeghers Syndrome

When a person is diagnosed with Peutz-Jeghers syndrome, there are various features that are associated with this kind of syndrome such as:

  • Freckles that are dark which are located in around the person’s lips, nose and eyes or elsewhere
  • Bluish gray or brownish spots on the person’s gums, lips, skin and inner lining of the mouth
  • Vomiting
  • Pain in the abdominal area
  • Cramping pain
  • Blood found in the stool
  • Skin lesions
  • Constipation
  • Café- au- lait spots
  • Diarrhea
  • Nausea
  • Swelling in the abdominal region
  • Black stool

Causes & Risk Factors

According to studies, the persons who have Peutz-Jeghers syndrome are positive with STK11 gene mutation. It is known that this kind of gene mutation is a tumor suppressing gene. This kind of gene prevents or halts the tumor cells from dividing and growing in a rapid phase or uncontrollably.

When a person has one copy of such gene mutation, it has the ability to alter the function and structure of the STK11 gene protein. It will disturb the normal functioning of the STK11 gene protein to control the cell’s ability to divide rapidly in succession.


As mentioned, the Peutz-Jeghers syndrome is an autosomal dominant genetic disorder. Because it is genetic kind of syndrome, there is a 50 percent chance that it can be pass-through to the next generation or to the person’s child or offspring.

It only takes a mutant gene from one parent to transfer the syndrome to their child.


The physician will diagnose this kind of syndrome by doing the following examinations:

  • Medical History Examination to determine the details of the symptoms experienced.
  • Physical Examination to verify via inspection, the signs that the person manifests.
  • Colon Examination via Colonoscopy will reveal polyps of the colon.
  • Genetic Testing will determine the presence of the gene mutation STK11.
  • Intestinal Testing to avoid the occurrence of obstruction in the intestines, intussusceptions and pain in the abdomen.
  • Upper endoscopy through the use of an endoscope.
  • X-ray of the small intestine which provides the complete picture of the entire small intestine.
  • Complete blood count which may show anemia.
  • Stool guaiac it is a test done to reveal occult or hidden blood in the person’s stool.
  • Total iron binding capacity is a kind of blood test that determines the iron content of the person’s blood.
  • Carcinoembryonic antigen is a test that is conducted to monitor and screen the degeneration of the cancer cells.


Persons with Peutz-Jeghers syndrome are actually advised to have:

Surgical treatment

People who are diagnosed as having this syndrome have the necessity to undergo many surgical procedures either via the modern laser technology or via the tradition way of surgical procedure. Most often the person undergoes re-sectioning procedures, laparotomy, and laparoscopies. This kind of surgical procedure is necessary for patients who have intestinal obstruction, intussusceptions or either a persistent intestinal bleeding. Surgery is also needed to cull out the polyps.

Diet modification treatment

There is an unrestricted diet for people with this syndrome. However, the persons who undergos surgical procedure follows certain prescribed food preparation such as avoiding kernel foods like corn products.

Pharmacological treatment

The most commonly prescribed medications in the treatment of Peutz-Jeghers syndrome is iron supplements. It is most often prescribed in counteracting the perceived blood loss that is associated with the surgical procedure.


The prognosis of a person with Peutz-Jeghers syndrome is poor. People die early compared to family members who are unaffected. According to some studies conducted, when the patient ages, the prognosis gets poorer and greater which may lead to the death of the person.


Persons with Peutz-Jeghers syndrome are exposed to the following possible complications:

  1. Cyst in the ovaries
  2. Tumors in the sex cord
  3. Rectal prolapsed
  4. Obstruction and adhesion from repeated surgical procedures
  5. Polyps which eventually results to cancer
  6. Intussusception
  7. High risk in cancer
  8. Gastrointestinal bleeding


The only prevention with this kind of genetic disorder is through genetic counseling. Since this kind of syndrome may be passed on from one generation to the next. You need to have such counseling, especially if you want to have children in the future.

Peutz-Jeghers Syndrome Pictures

Peutz-Jeghers Syndrome in the Lips and Mouth

Peutz-Jeghers Syndrome in the Lips and Mouth

Cafe-Au-Lait Spots pictures

Cafe-Au-Lait Spots

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