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Peutz-Jeghers syndrome

ORPHA:2869· ICD-10 Q85.8

Definition

A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant
Age of onset
Adolescent, Adult, Childhood