Peutz-Jeghers Syndrome Pictures

What is Peutz-Jeghers Syndrome ?

Peutz-Jeghers syndrome is a genetic disorder that leads to the formation of gastrointestinal polyps and hyper pigmented macules on the lips and on the mucus in the mouth. It is often inherited and is passed down in families. Individuals with Peutz-Jeghers syndrome are at a greater risk to develop certain cancers.

The incidence of Peutz-Jeghers syndrome in the general population is estimated at 1 in 24,000 to 300,000 births.

Peutz-Jeghers syndrome Symptoms

There are several symptoms of Peutz-Jeghers syndrome. Some of them are listed below:

• Anemia which may be diagnosed with a complete blood count.
• Intussusception which means that a part of the intestine may have entangled in itself.
• Instability in Total iron-binding capacity (TIBC)
• The fingers or toes may be clubbed
• Tumors in the ear that may be non-cancerous in nature.
• Bluish-gray or brownish pigmented spots on the gums, lips, skin and inner lining of the mouth.
• Blood in the stool which can occasionally be detected with the naked eye.
• Cramps or intense pain in the abdomen or the area around the belly.
• Vomiting
• A newborn baby may have dark freckles on and around the lips.
• In addition to the intestine the polyps may also develop in the colon which can be revealed with a colonoscopy.
• Bowel obstruction that may result in difficulty in evacuation of fecal material.

Peutz-Jeghers Syndrome Pictures

Picture 1: Peutz-Jeghers Syndrome Photo showing hyper pigmentation on lips

Image source: medicinenet.com

 

Picture 2 : Hyper pigmented macules on the lips in Peutz-Jeghers Syndrome

Image source: medscape.com

 

Picture 3 : Mucus in the mouth in Peutz-Jeghers Syndrome

Image source: dermis.net

 

Picture 4 : Peutz-Jeghers Syndrome Photo

 

Peutz-Jeghers Syndrome Causes

Since the cases of Peutz-Jeghers syndrome are very rare, very little is known about its causes. Some of the causes are as follows.

Familial Peutz-Jeghers syndrome is caused due to degeneration and mutation in a gene known as STK11. This gene is present on chromosome nineteen and may be a possible tumor suppressor gene. This genetic defect is inherited and passed on through families in an autosomal-dominant pattern. Thus the child has a fifty percent chance of inheriting the mutated gene from the parents and getting afflicted by the Peutz-Jeghers syndrome.
Sporadic Peutz-Jeghers syndrome seems unrelated to the STK11 gene mutation and hence is not passed down from parents to their children.

Peutz-Jeghers Syndrome Treatment

Some of the measures used to treat Peutz-Jeghers syndrome are as follows:

• The polyps may be surgically removed.
• Medications that provide iron supplements are used to counter blood loss.
• Regular check-ups to monitor the presence of polyps are essential for people with this condition.
• Individuals, who have a family history of Peutz-Jeghers syndrome, need to get genetic counseling if they plan to have children.