Peutz Jegher's Syndrome

INTRODUCTION:

  • Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an Autosomal Dominant Genetic Disease characterized by the development of benign polyps in the gastrointestinal tract and pigments in In mouth and other parts of body.

TYPES:

  • Familial
  • Sporadic

ETIOLOGY:

  • Mutation of tumor suppressor gene
  • Autosomal dominant condition
  • Family history of PJS

CHARACTERISTIC FEATURES:

  • Unusual skin freckling
  • Multiple benign hamartomatous polyps of small intestine( most commonly on jejunum)
  • Hypertrophy of smooth muscle layer
  • Melanosis (Brown macules) on oral mucosa, perioral region, lips & finger

SIGNS & SYMPTOMS:

  • Abdominal pain
  • Blood in stools
  • Unusual skin freckling
  • Multiple polyps of small intestine
  • Intussusception
  • Exostosis
  • Anemia

DIAGNOSIS:

  • Family history
  • Mucocutaneous lesions
  • Hamartomatous polyps
  • Gene testing

SCREENING TEST:

  • Radiological tests
  • CBC
  • Stool for occult blood
  • Pap test and pelvic examination
  • Carcinoma screening tests

COMPLICATTIONS:

  • Intestinal blockage
  • CA GIT(39% )
  • CA pancreas
  • CA breast

TREATMENT:

  • Surgery:Polypectomy on colonoscopy is treatment of choice in Peutz Jegher’s Syndrome
  • >1.5cm enteroscopicpolypectomy
  • Double ballon or capsule endoscopy with polypectomy
  • Iron supplements

Exam Question

  • Peutz Jeghers polyps present most commonly in Jejunum
  • Hamartomatous Polyps in Peutz Jegher’s Syndrome have less only 39% chances of malignant transformation
  • Polypectomy on colonoscopy is treatment of choice in Peutz Jegher’s Syndrome
  • Melanosis on oral mucosa are the oral sign of Peutz Jegher’s Syndrome
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