Peutz Jeghers syndrome PJS (intestine Polyps and Mucocutaneous Macules; Causes, symptoms, Treatment

Peutz-Jeghers Syndrome (PJS) is a rare genetic disorder characterized by the development of hamartomatous polyps in the gastrointestinal tract and distinctive dark-colored spots (mucocutaneous pigmentation) on the skin and mucous membranes. It is inherited in an autosomal dominant pattern, meaning a person with the syndrome has a 50% chance of passing it on to their offspring.

Key Features
Polyps:

Found primarily in the small intestine, but also in the stomach and colon.

Can cause complications like bowel obstruction, intussusception, or gastrointestinal bleeding.

Pigmentation:

Dark blue, brown, or black spots, often appearing on the lips, mouth, fingers, and toes.

These spots typically develop in childhood and may fade with age.

Cancer Risk:

Individuals with PJS have an increased risk of developing cancers, particularly in the gastrointestinal tract, pancreas, breast, ovaries, and testes.

Diagnosis
Clinical Examination: Identification of characteristic pigmentation and symptoms.

Imaging and Endoscopy: To detect polyps and assess complications.

Genetic Testing: Identifies mutations in the STK11 (LKB1) gene, which is commonly associated with PJS.

Management
Surveillance: Regular screening for polyps and associated cancers.

Surgical Intervention: Removal of symptomatic or high-risk polyps.

Genetic Counseling: For affected individuals and their families


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