Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by the development of polyps in the gastrointestinal tract and distinctive pigmented spots on the lips, mouth, hands, and feet. The prevalence of PJS is estimated to be around 1 in 25,000 to 1 in 300,000 individuals worldwide.
PJS affects both males and females equally and can manifest at any age, although symptoms typically appear in childhood or adolescence. The condition is caused by mutations in the STK11 gene, which is responsible for regulating cell growth and division.
While PJS is considered a rare disorder, it is important to note that the prevalence may vary among different populations. Studies have shown higher rates of PJS in certain ethnic groups, such as Ashkenazi Jews and individuals from the Netherlands. However, due to the rarity of the condition, accurate prevalence data can be challenging to obtain.
Early diagnosis and regular surveillance are crucial for individuals with PJS, as they have an increased risk of developing various types of cancer, including gastrointestinal, breast, ovarian, and pancreatic cancers. Genetic testing and close monitoring by healthcare professionals are recommended for individuals with suspected or confirmed PJS.