Peutz-Jeghers syndrome (PJS) presents with mucocutaneous pigmentations, hamartomatous GI polyps and cancers (GI and non-GI). It is inherited in an autosomal dominant pattern and often linked to mutations in the STK11 (LKB1) gene.
Pigmentations are mostly seen in the lips and perioral area followed by palms and then buccal mucosa and soles of the feet. Hamartomatous polyps can be seen in any part of the stomach-intestines but mainly in the jejunum.
Overall risk of cancer is 70-90% mainly around the age of 40. GI cancer mainly affect the colon followed by the stomach. Non-GI cancers include in descending order: breast, ovary, cervix and testicles. Consider screening for lung cancer in smokers.
Read more about Intestinal Polyposis Syndromes.
This post covers the points you need to know for your board exams as well as for teaching residents on the daily rounds. Medical professionals can't use the information here to treat their patients nor people can use the information her to treat themselves. If you are having any medical issues, contact your local emergency services. Please refer to your doctor for medical advice.