Peutz-Jeghers syndrome (patient information)
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Peutz-Jeghers syndrome |
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Peutz-Jeghers syndrome On the Web |
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Risk calculators and risk factors for Peutz-Jeghers syndrome |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Peutz-Jeghers syndrome (PJS) is a disorder in which growths called polyps form in the intestines. It is passed down through families (inherited). A person with PJS has a high risk of developing certain cancers.
What are the symptoms of Peutz-Jeghers syndrome?
Symptoms of PJS are:
- Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin
- Clubbed fingers or toes
- Cramping pain in the belly area
- Dark freckles on and around the lips of a newborn
- Blood in the stool that can be seen with the naked eye (sometimes)
- Vomiting
What causes Peutz-Jeghers syndrome?
- It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 25,000 to 300,000 births.
- There are 2 types of PJS:
- Familial PJS may be due to a mutation in a gene called STK11. The genetic defect can be inherited through families as an autosomal dominant trait. That means if 1 of your parents has this type of PJS, you have a 50% chance of inheriting the gene and having the disease.
- Sporadic PJS is not passed down through families and appears unrelated to an STK11 gene mutation.
Who is at highest risk?
When to seek urgent medical care?
Diagnosis
Treatment options
Where to find medical care for Peutz-Jeghers syndrome?
Directions to Hospitals Treating Peutz-Jeghers syndrome