The condition characterized by the widespread presence of more than 100 polyps in the intestines, along with specific clinical manifestations, is referred to as polyposis syndrome. Common types include:
Peutz-Jeghers Syndrome (PJS)
This syndrome is frequently observed in adolescents and often has a family history. It carries a risk of malignancy and belongs to the category of hamartomas. Multiple polyps may develop throughout the gastrointestinal tract, with the small intestine being the most commonly affected (64%). Patients may exhibit pigmentation on the lips, buccal mucosa, and extremities, typically appearing as black or brown-yellow spots. Due to the extensive distribution of polyps, curative surgical intervention is not feasible. Partial intestinal resection may be performed in cases of severe complications, such as massive intestinal bleeding, intestinal obstruction, or intussusception.
Familial Intestinal Polyposis
Also known as familial adenomatous polyposis (FAP), this disorder is an autosomal dominant condition caused by mutations in the APC gene on the long arm of chromosome 5. It typically manifests during youth and is characterized by the presence of numerous adenomas throughout the colon and rectum, with the small intestine being rarely affected. If untreated, nearly all individuals with FAP will progress to colorectal cancer, with the average age of malignancy onset being around 39 years.
Gardner Syndrome
This condition is classified within the same category as FAP and is also associated with genetic factors. It is characterized by extracolonic manifestations, including multiple osteomas and soft tissue tumors. The disease usually presents between the ages of 30 and 40 and demonstrates a significant predisposition for malignancy.