Peutz–Jeghers syndrome

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Peutz–Jeghers syndrome
Manifestations of Peutz-Jeghers syndrome.png
Synonyms PJS
Pronounce N/A
Specialty N/A
Symptoms Hamartomatous polyps, mucocutaneous pigmentation
Complications Intussusception, gastrointestinal bleeding, increased risk of cancer
Onset Childhood
Duration Lifelong
Types N/A
Causes Genetic mutation in the STK11 gene
Risks Family history of the syndrome
Diagnosis Genetic testing, endoscopy, colonoscopy
Differential diagnosis Juvenile polyposis syndrome, Cowden syndrome
Prevention Regular surveillance and screening
Treatment Surgical removal of polyps, cancer surveillance
Medication None specific, symptomatic treatment
Prognosis Variable, depends on complications and cancer risk
Frequency 1 in 25,000 to 300,000 live births
Deaths Related to complications and cancer


Peutz–Jeghers syndrome polyp
Peutz–Jeghers syndrome
Natural history of Peutz–Jeghers syndrome
Multiple polyps and large mass at the hepatic flexure

Peutz–Jeghers syndrome (PJS) is a genetic disorder that causes gastrointestinal polyps and pigmented macules on the lips and oral mucosa. It is named after the two doctors, Jan Peutz and Harold Jeghers, who first described the condition.

Signs and Symptoms[edit | edit source]

The most common symptoms of PJS are abdominal pain, rectal bleeding, and anemia. These symptoms are often caused by intestinal obstruction due to the polyps. The pigmented macules on the lips and oral mucosa are usually present from birth or early childhood.

Causes[edit | edit source]

PJS is caused by mutations in the STK11 gene. This gene provides instructions for making an enzyme that helps regulate cell growth and division. Mutations in the STK11 gene disrupt the enzyme's function, leading to the formation of polyps and other features of PJS.

Diagnosis[edit | edit source]

The diagnosis of PJS is based on clinical findings, family history, and genetic testing. The World Health Organization criteria for the diagnosis of PJS includes any one of the following:

  • Three or more Peutz-Jeghers type polyps of the small intestine.
  • Any number of Peutz-Jeghers type polyps of the small intestine with a family history of PJS.
  • Characteristic mucocutaneous pigmentation with a family history of PJS.

Treatment[edit | edit source]

There is no cure for PJS, but the symptoms can be managed with regular monitoring and treatment of polyps. This often involves endoscopy to remove polyps and prevent complications. Genetic counseling may also be beneficial for individuals with PJS and their families.

Prognosis[edit | edit source]

The prognosis for individuals with PJS is generally good, but they have an increased risk of developing certain types of cancer, including gastrointestinal cancer, breast cancer, and ovarian cancer. Regular monitoring and early detection of these cancers can improve the prognosis.

See Also[edit | edit source]

References[edit | edit source]

External Links[edit | edit source]

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Contributors: Prab R. Tumpati, MD