Fact-sheet: Peutz-Jeghers syndrome
Updated on 09/17/2021 at 12:16 PM
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Definition
Rare genetic disease with autosomal dominant transmission (<1/50000) combining hamartomatous polyposis of the digestive tract with labile lentiginosis of the oral mucosa, anal region, and fingers.
LKB1 gene mutation in 80% of cases.
Associated with a risk of ovarian, testicular, cervical, and pancreas tumors, and possibly breast and thyroid tumors.
(women: benign ovarian tumor, cervical cancer (adenocarcinoma); men: Sertoli cell calcifications or testicular tumors (gynecomastia)).
Presence of gynecomastia should prompt investigation for a Sertoli cell testicular tumor (micro- or macrocalcifications)
Clinical features
Chronic digestive bleeding --> iron deficiency anemia.
Obstructive syndrome.
Intussusception.
Abnormal pigmentation of the mouth, eyes, umbilicus, perineum, and fingers: dark blue to brown papules from childhood (pigmentation decreases in adulthood).
Presence of gynecomastia should prompt investigation for a Sertoli cell testicular tumor (micro- or macrocalcifications)
Laboratory findings
Diagnosis by genetic testing
Ultrasound
Incidental finding of testicular calcifications should prompt investigation for Peutz-Jeghers syndrome