PJS

PJS, short for Peutz-Jeghers syndrome, is a rare autosomal dominant genetic disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps throughout the gastrointestinal tract. It was first described by Jan Peutz in 1921 and later detailed by Harold Jeghers in 1949, with the syndrome ultimately named for them.

Signs and symptoms typically include distinctive melanin-like spots on the lips, oral mucosa, and surrounding facial areas, often appearing in childhood. These pigmentation lesions may fade with age but can persist in some individuals. Gastrointestinal polyps can cause abdominal pain, anemia from bleeding, and complications such as intussusception or obstruction. Polyps are most common in the small intestine but can be found anywhere along the GI tract.

Genetics and pathophysiology: Peutz-Jeghers syndrome is caused by mutations in the STK11 (LKB1) tumor suppressor gene. The condition is inherited in an autosomal dominant pattern, with penetrance increasing with age. The polyps are hamartomas, benign growths, though they carry an elevated risk of malignancy over a person’s lifetime.

Diagnosis is usually based on the combination of characteristic mucocutaneous pigmentation and multiple GI polyps, with genetic testing for STK11 mutations used to confirm the diagnosis. Endoscopic evaluation and imaging are employed to detect and manage polyps and related complications.

Management and prognosis: Ongoing surveillance is recommended to monitor and treat polyps and to screen for associated cancers. Endoscopic polypectomy or surgical removal may be needed for symptomatic polyps. The condition is associated with a higher lifetime risk of various cancers, including gastrointestinal, pancreatic, breast, ovarian, and testicular cancers, making regular follow-up important. The prognosis depends largely on cancer development and the effectiveness of surveillance and intervention.

Note: PJS can denote other terms in different contexts; this article discusses Peutz-Jeghers syndrome.