A 19-year old male Caucasian patient visited the emergency department of our hospital because of melena. He was previously healthy and used no medication but had noticed black stools one week before his visit. There had been no abdominal discomfort, nausea or vomiting. None of his family members had gastrointestinal diseases, and he used no alcohol, did not smoke or use elicit drugs. His occupation is unknown. On physical examination the abdomen was nontender and without palpable masses. Rectal examination revealed black stools. His weight was 62 kg. and his length 1,87 m. Laboratory tests showed an iron deficiency anemia with a hemoglobin concentration of 4.7 mmol/L (normal > 8,5 mmol/L) and a serum ferritin concentration of 4 μg/L (normal > 30 μg/L). Liver function tests, serum creatinine, albumin, CRP and glucose were all normal. Duodenoscopy showed a normal esophageal, gastric and duodenal mucosa without evidence of recent bleeding. A Meckel scan showed no evidence for a Meckel's diverticulum. A small bowel series however, demonstrated a large polyp in the proximal jejunum and possibly a smaller polyp in the distal jejunum (Figure ).\nAs this polyp was the probable cause of the patient's bleeding, a laparotomy with peroperative small bowel endoscopy was performed. Approximately 50 cm beyond Treitz' ligament, a multilobular, 40 mm large polyp was seen, which was subsequently surgically resected (Figure ). There were no other small bowel polyps; the suspected smaller polyp seen on the small bowel series was therefore most likely an artefact.\nPathologic examination of this polyp demonstrated a hamartomatous polyp with arborization of smooth muscle compatible with a PJP (Figure ). No signs of dysplasia were seen and the surrounding tissue had a normal histological appearance. Immunohistochemistry was negative for p53, focally positive for cyclin D1 and the basal parts of the cryps were positive for Ki67/MIB1.\nThe postoperative course has been unremarkable and no further gastrointestinal bleeding has occurred. Total colonoscopy did not show any additional polyps. A repeated, extensive family history, performed by a clinical genetics consultant, did not reveal clues (including pigmentation, nasal or gastrointestinal polyps or typical secondary tumors) to the occurrence of PJS in family members.
A 22-year-old male patient was referred to us for evaluation of multiple pigmented lesions over his mouth, present since childhood. Since the age of 9 year, there was a history of occasional hematochezia. However, there was no history of melena. The parents had taken him to a local physician, and the condition was managed with antihelminthic drugs, but the problem used to recur. There was no history of weight loss or any other systemic complaints. Five days back, he had presented to the general emergency with complaints of nonpassage of stool and flatus, pain, and distension of abdomen and vomiting. He had tachycardia, tachypnea, dehydration, hypotension, and distended rigid abdomen. Per rectal examination revealed empty rectum with blood mixed mucus. Straight X-ray abdomen showed dilated bowel loops, multiple air-fluid levels, and the absence of gas in colon and rectum []. Diagnosis of small bowel obstruction was made, and the patient was resuscitated. Hematological profiles and serum electrolytes were within the normal limits. Exploratory laparotomy was done. On exploration, ileocecal intussusception was found with a short segment of gangrenous ileum which was managed with limited ileocecal resection []. Numerous polyps were found along the whole length of the small and large gut. Proximal ileostomy with distal mucous fistula was made. A polyp was found to be the apex of the intussusception, which was histologically found to be a hamartomatous polyp [].\nDuring follow-up, upper gastrointestinal endoscopy and colonoscopy were done which revealed the presence of polyps from the gastric fundus to the rectum. Biopsy from those polyps confirmed a hamartomatous pathology []. Besides, detailed cutaneous examination revealed melanotic mucocutaneous macules in the lips and buccal mucosa [Figures and ]. As per the patient, one of his two younger brothers had similar lesions over the lips, but he was not available for examination. There was no history of hematochezia, melena, or weight loss among the siblings or any other family member.\nAfter 5 months of the first surgery, the patient was reoperated for taking down of ileostoma. During operation, colocolic intussusception was found in the transverse colon with a large mass palpable inside. This colocolic intussusception was resected with ileotransverse anastomosis. Postoperative period was uneventful, and the patient was discharged after 6 days. Histopathology of the mass showed expansion of the marginal zone of the lymphoid tissue along with sheets of heterogeneous population of small lymphocytes, suggestive of MALToma []. Immunohistochemistry showed CD20 positivity. Both proximal and distal margins were negative for malignant cells.\nAfter 1-year follow-up, the patient was asymptomatic. Colonoscopy revealed few pedunculated polyps in the rectum and sigmoid colon, but the surface was smooth. Yearly colonoscopy follow-up was planned to detect early malignant changes.