This document discusses Peutz-Jeghers syndrome, a rare genetic disorder characterized by benign polyps in the gastrointestinal tract and pigmentation of the mouth and skin. It is caused by a mutation in a tumor suppressor gene and is inherited in an autosomal dominant pattern. Symptoms may include abdominal pain, blood in the stool, and intestinal blockage. Diagnosis involves family history, clinical examination finding polyps and pigmentation, and genetic testing. Treatment involves surgery to remove polyps and endoscopic screening, while prevention involves genetic counseling.

2. Introduction
Dr. Johannes Peutz, 1951

3. Definition
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.

4. Prevalence
1 in 100,000 to 200,000 births

5. Incidence
 Affects both Males and Females
 Age group of 25- 35 yrs
 50% of the affected are found to
have gene mutation

6. Types
Familial
Sporadic

7. Causes
 Mutation of tumor suppressor gene
 Autosomal dominant condition
 Family history of PJS

8. Characteristic Features
Unusual skin freckling

9. Multiple polyps of small intestine

10. Hypertrophy of smooth muscle layer

11. Melanin deposition of digits

12. Signs and Symptoms
 Abdominal pain
 Blood in stools
 Unusual skin freckling
 Multiple polyps of small intestine
 Intussusception
 Exostosis
 Anemia

13. Diagnosis
 Family history
 Mucocutaneous lesions
 Hamartomatous polyps
 Gene testing

14. Screening test
 Radiological tests
 CBC
 Stool for occult blood
 Pap test and pelvic examination
 Carcinoma screening tests

15. Complications
 Intestinal blockage
 CA Stomach
 CA pancreas
 CA breast

16. Treatm
ent
 Surgery
 >1.5cm enteroscopic polypectomy
 Double ballon or capsule endoscopy with
polypectomy
 Iron supplements

17. Prevent
ion
 Genetic councelling

18. Conclusi
on

19. Referen
ce
Nightingale nursing times, vol 4,issue1,
april 2008