Peutz-Jeghers syndrome: report of 6 cases in a family and management of polyps with intraoperative endoscopy.

BACKGROUND/AIMS: Peutz-Jeghers syndrome is an uncommon, autosomal dominantly inherited disorder characterized by mucocutaneous melanin pigmentation and gastrointestinal hamartomatous polyps. The purpose of this study was to present six cases of Peutz-Jeghers syndrome in a family.

METHODS

Enteroclysis, upper and lower gastrointestinal endoscopy, and thyroid, abdominal, and testicular or breast ultrasonography were performed in all subjects. Tumor markers including CEA, alpha-FP, CA 19-9, CA 15-3, and CA 125 were measured. Management of polyps and complications were evaluated.

RESULTS

History of the patients were as follows: patient 1 (40-year-old male) underwent surgery 20 years previously; patients 2 and 3 (19-year-old female and 17-year-old male) had undergone surgery three times between the ages of 11 and 18 years, and two times between the ages of 15 and 17 years, respectively; patient 4 (16-year-old male) had undergone surgery three times at the age of 13 years; patients 5 and 6 (14-year-old and 11-year-old males) had no history of surgery. All surgical procedures had been performed due to intestinal obstruction. Hyperpigmentation of the lips and oral mucosa were observed in all patients except patient 1, whose pigmentation disappeared 20 years previously. Patient 2 also had pigmentation of hands and feet. Enteroclysis showed small bowel polyps in all subjects except patients 1 and 6. During colonoscopy, different sizes of polyps were observed at different locations of the colon, and polyps larger than 1 cm were removed. Patients 2 and 3 underwent surgery due to complication of small bowel polyps; 69 polyps in patient 2 and 17 polyps in patient 3 were removed via intraoperative endoscopic procedure. Hamartomatous lesions were confirmed by histopathological examinations. Microscopic study of polyps of patients 2 and 3 revealed dysplastic changes. None of the patients had evidence of malignancy as of June 2003. Peutz-Jeghers syndrome demonstrated autosomal dominant inheritance in this family.

CONCLUSIONS

The major problem during follow-up of patients with Peutz-Jeghers syndrome is the management of small bowel polyps. When encountered during surgery, intraoperative enteroscopic polypectomy should be performed.