Peutz-Jeghers syndrome with mesenteric fibromatosis: A case report and review of literature

Abstract

Background: Peutz-Jeghers syndrome (PJS) and mesenteric fibromatosis (MF) are rare diseases, and PJS accompanying MF has not been previously reported. Here, we report a case of a 36-year-old man with both PJS and MF, who underwent total colectomy and MF surgical excision without regular follow-up. Two years later, he sought treatment for recurrent acute abdominal pain. Emergency computed tomography showed multiple soft tissue masses in the abdominal and pelvic cavity, and adhesions in the small bowel and peritoneum. Partial intestinal resection and excision of the recurrent MF were performed to relieve the symptoms.

Case summary: A 36-year-old male patient underwent total colectomy for PJS with MF. No regular reexamination was performed after the operation. Two years later, due to intestinal obstruction caused by MF enveloping part of the small intestine and peritoneum, the patient came to our hospital for treatment. Extensive recurrence was observed in the abdomen and pelvic cavity. The MF had invaded the small intestine and could not be relieved intraoperatively. Finally, partial bowel resection, proximal stoma, and intravenous nutrition were performed to maintain life.

Conclusion: Regular detection is the primary way to prevent deterioration from PJS. Although MF is a benign tumor, it has characteristics of invasive growth and ready recurrence. Therefore, close follow-up of both the history of MF and gastrointestinal surgery are advisable. Early detection and early treatment are the main means of improving patient prognosis.

Keywords: Case report; Mesenteric fibromatosis; Peutz-Jeghers syndrome; Recurrence; Regular follow-up.

Figure 1

Multiple pigmented spots in the mouth and on the lip of the patient.

Figure 2

The patient had multiple polyps in the gastrointestinal tract. A: Multiple soybean-sized polyps in the gastric fundus were regular and smooth; B: Some colon polyps were irregular; C: Partial colonic hemorrhage; D: Colonic polyps with surface ulcer; E: Hyperemia and edema of the surrounding mucosa; F: Multiple polyps throughout the colon.

Figure 3

Enhanced computed tomography images revealing mesenteric fibromatosis presented the first time as slightly enhanced masses in the lower right transverse colon and cloudy surrounding fat spaces (white arrows). A: Coronal plane; B: Sagittal plane.

Figure 4

Pathological images of the patient. A-C: Pathological images showed multiple tubularvillous adenomas with moderate dysplasia [A: hematoxylin and eosin (H&E) staining, 100 ×, B: H&E staining, 200 × and C: H&E staining, 400 ×]; D-F: Fusiform cell tumor-like hyperplasia of the mesentery (D: H&E staining, 100 ×, E: H&E staining, 200 × and F: H&E staining, 400 ×).

Figure 5

Immunohistochemistry images of the mesenteric fibromatosis. A: Slight positive Calponin staining of tumor cells [immunohistochemistry (IHC) staining, 200 ×]; B: 2% Ki67 staining of tumor cells (IHC staining, 200 ×).

Figure 6

Second reexamination of abdominal contrast-enhanced computed tomography images. A-D: The second reexamination of abdominal contrast-enhanced computed tomography images showed heterogeneous enhancement of multiple masses in the abdomen and pelvic cavity, and an unclear boundary between the masses and adjacent intestine.