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Dr. Andrew Rynne

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Article Home Adult and Senior Health Peutz Jeghers Syndrome

Peutz Jeghers Syndrome

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It is also known as hereditary intestinal polyposis syndrome. It is a rare autosomal dominant genetic disease. It is characterized by presence of benign hamartomatous polyps in the gastrointestinal tract and presence of hyperpigmented macules on lips and oral mucosa.

 

It is the combination of pigmented lesions in the buccal mucosa and gastrointestinal polyps. It has high incidence of developing cancers. It is caused due to mutation of gene STK11 gene

Peutz-Jegher’s syndrome

Signs and symptoms

Repeated bouts of abdominal pain

  • Unexplained intestinal bleeding
  • Prolapse of tissue from rectum
  • Clubbing of fingers or toes
  • Vomiting
  • Blood in stool
  • Brownish or bluish-gray pigmented spots on lips, gums, mouth and skin
  • Menstrual irregularities in females
  • Gynecomastia
  • Precocious puberty
  • Gastrointestinal intussusceptions with bowel obstruction
  • Mucocutaneous lesions characterized by patches of hyper pigmentation in mouth and on hands and feet. The oral pigmentations appear first. The pigmentations are also seen on gingiva, hard palate and inside the cheek.
  • Benign hamartomatous polyps

Diagnosis of Puetz-Jeghers syndrome

  • Complete blood count reveals anemia due to blood loss
  • Carcinoembryonic antigen test
  • Hemoccult test to check blood in stool
  • Upper GI endoscopy
  • Colonoscopy
  • Sigmoidoscopy
  • X-ray of the abdomen
  • Genetic testing
  • Esophagogastroduodenoscopy
  • Capsule enteroscopy
  • CT scan abdomen

Treatment of Puetz-Jeghers syndrome

  • Annual physical examination including examaintion of breasts, abdomen, pelvis and testes
  • Annual complete blood cell count
  • Removal of hemorrhagic polyps by endoscopic polypectomy
  • Surgeries like enteroscopic polypectomy, laparotomy.

Complications of Puetz-Jeghers syndrome

  • Intussusception of the intestines
  • Polyps which lead to cancer
  • Ovarian cysts
  • Sex cord tumors