Peutz-Jeghers Syndrome is a rare genetic disease which results in the growth of benign polyps in the digestive tract and macules (discolored lesions) on the lips. It is also known to increase the risk of several types of cancer. Somewhere between one in 25,000-300,000 infants suffer from this disease. The same disease may be referred to as polyps and spots syndrome, or formally as intestinal polyposis-cutaneous pigmentation syndrome.
As young children, people who have been born with Peutz-Jeghers Syndrome typically develop macules, or dark spots, on their lips and in their mouths, as well as potentially around the nostrils and eyes, and less often on their feet or their hands. These spots can fade over time. However, they also develop polyps in the digestive tract, causing stomach pain, bowel obstructions, and bleeding. According to the National Institutes of Health, the disease can also cause clubbed fingers and vomiting, neither of which are exclusive symptoms of this disorder. Either the lesions or the polyps, together with family history (or both, with or without a family history), are sufficient for a diagnosis of Peutz-Jeghers Syndrome, and it can also be confirmed through a DNA test.
Later on in life, Peutz-Jeghers Syndrome is also associated with a substantially increased risk of several types of cancer, including stomach cancer, pancreatic cancer, and, in women, cervical cancer, ovarian cancer, and breast cancer. The polyps which grow in the digestive tract can turn malignant, resulting in cancer, but according to the National Institutes of Health people with this disease are also more likely to develop cancer in their lungs and, in women, in the reproductive organs. According to Ohio State University, Peutz-Jeghers Syndrome causes a 93% lifetime cancer risk.
Peutz-Jeghers Syndrome has, for the past decade or so, been linked to a specific genetic mutation on chromosome 19, involving tumor suppressor gene STK11. It is a dominant gene, meaning that a person with one Peutz-Jeghers parent has a 50% chance of carrying the disease themselves. In some cases, the disease may occur despite any apparent hereditary genetic mutation. Cancer is a serious risk for people with Peutz-Jeghers Syndrome because when the tumor suppressor genes are damaged, the body loses its ability to catch and eradicate dangerously mutated cells before they can lead to actual cancer. STK11 is not carried on the X or Y genes, so male and female children are at equal risk.
As a genetic disease, there is no direct treatment for this syndrome. However, people diagnosed with Peutz-Jeghers Syndrome are strongly recommended to have regular cancer screening throughout adulthood. Troublesome polyps can be surgically removed.
- Sources and More Information -
Genetics Home Reference. "Peutz-Jeghers Syndrome."
National Institutes of Health. "Peutz-Jeghers Syndrome: MedlinePlus Medical Encyclopedia."
Ohio State University Medical Center. "Peutz-Jeghers Syndrome."
University of Maryland Medical Center. "Peutz-Jeghers Syndrome - Overview."