Peutz Jeghers syndrome (PJS) is an autosomal dominant disease characterized by hamartomatous polyposis and distinct mucocutaneous pigmentation. PJS is associated with an increased risk for several cancers and other complications such as small intestine intussusception, short bowel syndrome, and anemia. Medical management mainly consists of treatment of the polyps and surveillance. This medical ...

Objective: This study was carried out to evaluate the frequency, of polypoid lesions of the gastrointestinal tract and to observe the frequency of dysplastic / malignant change in these polyps. Design: This was a 13-years retrospective study. Setting: Department of Pathology, Basic Medical Sciences Institute (BMSI), JPMC Karachi and included all polypoid lesions from the attached hospital, Paki...

CronkhiteCanada syndrome (CCS) considered as a rare and non-hereditary disorder. Gastrointestinal polyposis and diarrhea along with some extra signs and symptoms such as hypoproteinemia, and epidermal manifestations are recognized in this syndrome. The pathophysiology of this syndrome is not completely understood and it seems that inflammatory processes may be involved. We present a 50 year-old...

A 63-year-old male with history of prostate cancer treated with radiation presented for a colonoscopy for small volume hematochezia. The colonoscopy revealed numerous polyps, which were found to be ganglioneuromas on histological examination. He was referred to medical genetics with suspicion for hamartomatous polyposis syndrome and was found to have a mutation in the PTEN gene. Based on this a...

A 53-year-old male presented with complaints of abdominal pain and weight loss. On physical exam he was noted to have mucocutaneous pigmentation around his lips and oral mucosa. Radiologic and endoscopic investigations demonstrated an obstructing mass in the second portion of the duodenum along with additional smaller soft tissue masses throughout the bowel. Histology of biopsied specimens reve...

Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder equally affecting males and females with an incidence of 1/25,000 – 1/300,000 births. It characterised by the development hamartomatous polyps digestive tract, lifetime risk colorectal cancer other gastrointestinal malignancies, as well non-gastrointestinal cancers such breast ovarian cancers. Intestinal polyposis very common in...

Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas poly...

AIM To explore mutations in serine/threonine kinase 11 (STK11) gene in Peutz-Jeghers syndrome (PJS) with gastrointestinal (GI) hamartomatous polyps. METHODS Six Japanese PJS patients in 3 families were enrolled in this study. Each of the cases had hamartomatous polyposis in the gastrointestinal tract, including the small intestine, along with mucocutaneous hyperpigmentation. Narrow-band imagi...

Cronkhite-Canada syndrome (CCS) is a rare nonfamilial polyposis syndrome characterized by epithelial disturbances both in the gastrointestinal tract and in the epidermis. The pathologic finding of the polyp is usually a hamartomatous polyp of the juvenile type; however, the possibility of serrated adenoma associated malignant neoplasm was reported in some Japanese cases. Up till now in South Ko...