Are you getting blackheads and pimples on your body? Let's talk about Peutz-Jeghers Syndrome (PJS)!

Does your little one have small, dark spots around their lips, inside their mouth, or on their hands? You might think they're just spots. But you might be surprised to learn that these spots could be related to a type of tumor that develops inside the body, especially in the intestines. Today we're going to talk about a rare but important condition to be aware of. This is called Peutz-Jeghers Syndrome, or PJS for short.

Simply put, what is Peutz-Jeghers Syndrome (PJS)?

Peutz-Jeghers Syndrome (PJS) is a genetic condition that causes small growths (polyps) to form inside our bodies and dark spots to appear on our skin and inside our mouths. The best part is that these growths and spots are not cancerous (benign) . But the problem is that people with PJS have a much higher risk of developing cancer in the future than others.

These dark spots (medically called `mucocutaneous hyperpigmentation`) are usually seen in childhood. But they gradually fade as we grow older. The type of tumor I mentioned (`hamartomatous polyps`) most often develops in our digestive system (`gastrointestinal tract`). That is, in places like the small intestine, stomach, and colon . But occasionally, they can also develop in places like the kidneys, bladder, lungs, and nose. These tumors can cause various complications, and sometimes they can turn into cancer.

If you have PJS, your doctor will regularly check for cancer and high-risk tumors.

How common is this disease?

This is a very rare condition. Although it is not known exactly how many people have it, researchers estimate that it affects between one in 300,000 and one in 25,000 people .

What are the symptoms of PJS?

PJS mainly causes dark spots (in childhood) and polyps (in both children and adults). Let's look at these symptoms separately.

Why does this PJS develop? What is the cause?

Most people with PJS have a mutation in a gene called STK11. STK11 is a tumor suppressor gene . Simply put, the function of this gene is to control the uncontrollable growth of cells in our body.

About 80% of people with PJS inherit this gene mutation from their mother or father. The remaining 20% ​​may have no family history of the disease, but they may develop this gene mutation themselves. Some people develop PJS without any changes in the STK11 gene. Scientists don't yet know exactly why.

How is this disease inherited?

Usually, a child inherits this altered gene from one parent. It is inherited in an ``autosomal dominant`` pattern. This means that whether the mother or father inherits this altered ``STK11`` gene, the child is at increased risk of developing PJS symptoms and complications. If you have this gene mutation, your child has a 50% chance of inheriting it.

What are the possible complications of PJS?

The most serious complication is cancer . Researchers say that a person with PJS has a lifetime risk of developing cancer of up to 93% . That's why doctors regularly test for cancer and try to detect it early.

Other complications are:

• Intussusception: This occurs when a large polyp in the small intestine pushes through and causes part of the intestine to bend inward. This condition can affect up to 69% of people with PJS.
• Small bowel obstruction: Tumors can block the small intestine. About 50% of people with PJS develop severe intestinal obstruction that requires surgery before the age of 20.
• Bleeding from the digestive tract: Tumors can put pressure on the intestinal tissue and cause bleeding.
• Iron-deficiency anemia: Continuous bleeding causes a decrease in iron in the body, leading to anemia.

Specific complications for women and men

• Women: Ovarian tumors (sex-cord tumors) and a rare, serious type of cancer called adenoma malignum, which develops in the cervix. This can cause irregular menstrual cycles or early puberty.
• Men: They may develop tumors in the testicles (Sertoli-cell tumors). This can cause breast development (gynecomastia), early puberty, and their bones may grow faster than normal, eventually leading to shorter stature.

PJS and cancer risk

PJS significantly increases the risk of developing cancers of the digestive system and other organs in the body. The average age at which a PJS patient is diagnosed with cancer is about 42 years old.

How is PJS diagnosed?

Many people are diagnosed with PJS after seeing a doctor because of symptoms such as intestinal obstruction or intussusception. The average age of diagnosis is around 23 years. To make a diagnosis, doctors look for the following:

• Does anyone in the family have PJS?
• Dark spots on the skin.
• Whether there are polyps in the digestive system.

In addition, a genetic test can be done to see if you have the `STK11` gene mutation.

Tests to diagnose the disease

Your doctor may recommend various tests to check for tumors in your intestines. Some of them include:

• Colonoscopy: Examination of the large intestine using a tube with a camera.
• Upper endoscopy: Examination of the esophagus, stomach, and upper part of the small intestine.
• Capsule endoscopy: Swallowing a capsule with a small camera inside. This camera takes pictures as it travels down the digestive tract.

You can also take a blood sample to see if you have anemia due to iron deficiency.

What are the treatments for PJS?

PJS cannot be completely cured, so the main goal of treatment is to monitor the risk of cancer and prevent complications caused by the tumor.

Doctors can remove tumors in the large intestine during a colonoscopy. They can also remove tumors in the stomach and upper part of the small intestine if necessary. Sometimes, special procedures such as balloon-assisted enteroscopy are used to remove tumors that are further into the small intestine.

In some cases, surgery may be necessary to remove the cyst.

What screenings do I need to undergo regularly?

If you have PJS, you will need to have regular screening tests throughout your life to detect cancer and other complications early. This may seem a bit annoying, but it is essential to protect your life.

Can this disease be prevented?

Since PJS is usually hereditary, there is nothing we can do to prevent it from developing.

But if you have PJS, the most important thing you can do is inform your family about it and refer them for genetic counseling . Then they can be tested for this gene mutation and get the advice they need to prevent cancer.

If you have PJS, your child has a 50% chance of getting it. But there are now ways to reduce that risk. For example, if you are having a baby through in vitro fertilization (IVF), a technique called preimplantation genetic diagnosis (PGD) can be used to check for the gene mutation in the embryo. These are complex and expensive procedures, so it is important to talk to your doctor about this.

Peutz-Jeghers Syndrome, PJS, STK11 gene, hamartomatous polyps, cancer risk, stomach tumors, black spots on the skin