Rare genetic polyposis syndrome, characterized by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation.
Inherited as an autosomal-dominant syndrome caused by germline alterations in STK11 gene. De novo mutations may also occur.
Associated with an increased risk of intestinal cancer (e.g., colorectal and small bowel) and extraintestinal cancer (e.g., breast, pancreas). The lifetime risk for developing cancer is estimated to be up to 93%. Unusual genital tract tumors may also occur.
Patients require lifelong cancer surveillance with prophylactic polypectomy.
Small bowel obstruction is a frequent complication; up to 70% of individuals require laparotomy for small bowel obstruction by the age of 18 years.