Petuz jeghers
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Introduction
Dr. Johannes Peutz, 1951
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DefinitionPeutz–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.
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Prevalence
1 in 100,000 to 200,000 births
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Incidence
Affects both Males and Females
Age group of 25- 35 yrs
50% of the affected are found to
have gene mutation
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Types
Familial
Sporadic
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Causes
Mutation of tumor suppressor gene
Autosomal dominant condition
Family history of PJS
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Characteristic Features Unusual skin freckling
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Multiple polyps of small intestine
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Hypertrophy of smooth muscle layer
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Melanin deposition of digits
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Signs and Symptoms
Abdominal pain
Blood in stools
Unusual skin freckling
Multiple polyps of small intestine
Intussusception
Exostosis
Anemia
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Diagnosis
Family history
Mucocutaneous lesions
Hamartomatous polyps
Gene testing
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Screening test
Radiological tests
CBC
Stool for occult blood
Pap test and pelvic examination
Carcinoma screening tests
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Complications
Intestinal blockage
CA Stomach
CA pancreas
CA breast
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Treatm
ent
Surgery
>1.5cm enteroscopic polypectomy
Double ballon or capsule endoscopy with
polypectomy
Iron supplements
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Prevent
ion Genetic councelling
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Conclusi
on
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Referen
ceNightingale nursing times, vol 4,issue1, april 2008