Peutz-Jeghers Syndrome

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Description

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder that affects the digestive tract and skin. Individuals with PJS develop multiple polyps, which are small, non-cancerous growths, in the intestines. These polyps can lead to complications such as bleeding, intestinal obstruction, and an increased risk of developing certain types of cancer. PJS also causes the appearance of small, dark brown or black spots on the lips, mouth, and around the eyes.

Genes Involved

Genes Involved in Peutz-Jeghers Syndrome

• STK11 (serine/threonine kinase 11): This gene is responsible for producing a protein that helps to control cell growth and division. Mutations in this gene are the most common cause of PJS.

• Other genes: While STK11 is the most frequently implicated gene, mutations in other genes, such as PTEN and ATM, have been linked to PJS in some cases.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms of Peutz-Jeghers Syndrome

• Gastrointestinal polyps: The most common symptom of PJS is the development of multiple polyps in the intestines, particularly in the small intestine. These polyps are usually non-cancerous but can cause problems such as bleeding, abdominal pain, and blockage.

• Pigmented spots: Another characteristic feature of PJS is the appearance of small, dark brown or black spots on the lips, mouth, fingertips, palms, and around the eyes. These spots are often present at birth or develop early in childhood.

• Other symptoms: Some individuals with PJS may experience other symptoms, including:

  • Diarrhea
  • Abdominal cramps
  • Weight loss
  • Anemia

Causes

Causes of Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome is an inherited disorder. This means it is passed down from a parent to a child through a mutated gene. A person needs to inherit only one copy of the mutated gene from either parent to develop PJS.

If one parent has PJS, there is a 50% chance their child will inherit the condition. However, it‘s important to note that there are cases where PJS arises as a new mutation (de novo). In these instances, neither parent carries the mutated gene.

Inheritance/recurrence risk

Inheritance or Recurrence Risk

Peutz-Jeghers Syndrome is an autosomal dominant genetic disorder. This means that a person needs to inherit only one copy of the mutated gene to develop the condition. If one parent has PJS, there is a 50% chance their child will inherit the condition. If both parents have PJS, there is a 75% chance that their child will inherit the condition. There is also a small risk of a new mutation occurring, meaning a child may develop PJS without any family history.