Polyps usually begin developing in these patients within the first decade of life. Patients are often symptomatic between the ages of 10 and 30 years of age.
Around 50% of individuals with familial Peutz-Jeghers syndrome have a heterozygous loss of function mutation in the gene LKB1/STK11. Absence of this mutation does not preclude presence of Peutz-Jeghers syndrome.
This is a rare autosomal dominant syndrome.
The polyps consist of an excess accumulation of arborizing normal tissue such as mucosal glands, smooth muscle and connective tissue. The polyps occur most frequently in the small intestine, and can serve as a lead point for intussusception.
Dark blue to brown macules are present in the mouth (including buccal mucosa), lips, hands and genitalia.
This can aid in the diagnosis of Peutz-Jeghers syndrome.
There is an increased risk of colorectal cancer (CRC) and other malignancies. These carcinomas arise independently of the nonmalignant GI hamartomatous polyps. The overall cancer risk is around 50% in the 6th decade, thus, routine cancer surveillance should be performed.
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