Final answer:
Peutz-Jeghers syndrome is a genetic disorder with risks of cancer and is characterized by hamartomatous polyps and mucocutaneous pigmentation. It is caused by mutations in the STK11 gene. Treatment focuses on managing symptoms and reducing cancer risk through screening and polyp removal.
Step-by-step explanation:
Peutz-Jeghers syndrome (PJS) is a genetic disorder characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract, particularly in the stomach and intestines. People with the syndrome are at an increased risk of developing certain types of cancer, including gastrointestinal, pancreatic, and gynecologic cancers.
Patients with PJS often have distinctive mucocutaneous pigmentation, manifesting as dark blue to dark brown spots on the lips, mouth, hands, feet, and around the eyes. The condition is caused by mutations in the STK11 gene (also known as the LKB1 gene), which is responsible for regulating cell growth and preventing cells from dividing too rapidly or in an uncontrolled way.
Symptoms and Diagnosis
Symptoms of Peutz-Jeghers syndrome can include intestinal obstruction due to polyps, abdominal pain, blood in the stool, and a characteristic freckling of the skin. Diagnosis is typically made through a combination of medical history, physical examination, endoscopic observation of polyps, and genetic testing for mutations in the STK11 gene.
Treatment and Management
Treatment of PJS revolves around managing symptoms, reducing cancer risk, and addressing complications. This may involve regular cancer screening, polyp removal via endoscopy, and possibly surgery if severe complications like intestinal blockages occur. Genetic counseling is also recommended for affected individuals and their families.