Introduction

Dr. Johannes Peutz, 1951

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.

Prevalence

1 in 100,000 to 200,000 births

Incidence

Affects both Males and Females

Age group of 25- 35 yrs

50% of the affected are found to

have gene mutation

Types

Familial

Sporadic

Causes

Mutation of tumor suppressor gene

Autosomal dominant condition

Family history of PJS

Characteristic Features Unusual skin freckling

Multiple polyps of small intestine

Hypertrophy of smooth muscle layer

Melanin deposition of digits

Signs and 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

Complications

Intestinal blockage

CA Stomach

CA pancreas

CA breast

Treatm

ent

Surgery

>1.5cm enteroscopic polypectomy

Double ballon or capsule endoscopy with

polypectomy

Iron supplements

Prevent

ion Genetic councelling

Conclusi

on

Referen

ceNightingale nursing times, vol 4,issue1, april 2008