Peutz-Jeghers syndrome

Peutz–Jeghers syndrome (PJS) is a hereditary cancer predisposition syndrome. It leads to the development of intestinal polyps (benign growths in the intestine that may become malignant). The condition affects approximately 1 in 25,000 to 30,000 births. There are two types of PJS.

Familial PJS is caused by a mutation in the STK11 gene. The genetic defect is inherited in an autosomal dominant pattern. This means that if one parent has PJS, the child has a 50% chance of inheriting the mutated gene and developing the disease. Sporadic PJS is not inherited and is likely not associated with STK11 mutations.

Diagnosis:
Diagnosis can be made using imaging methods such as colonoscopy (examination of the large intestine), which visualizes intestinal polyps. A capsule endoscopy (a small camera that is swallowed and records its passage through the digestive tract) can also be used. Laboratory tests are performed to rule out other conditions.

Treatment:
Polyps are removed surgically. Since removal of a large number of polyps may lead to blood loss, iron supplements are administered. Patients must be regularly monitored for malignant transformation of polyps. There is no causal therapy, as this is a genetic disorder.

• Brownish or bluish-gray pigmented spots on the lips, gums, inner lining of the mouth, and skin
• Cramp-like abdominal pain
• Dark freckles around and inside the mouth in newborns
• Blood in stool visible to the naked eye, or black (tarry) stool due to digested blood
• Vomiting
• Up to thousands of intestinal polyps in both the small and large intestine
• Occasionally, development of cancers of the lungs, uterus, or ovaries
• Possible complication: intestinal obstruction