autosomal dominant condition that is characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation [1,2]. Confocal laser endomicroscopy (CLE) is rapidly emerging as a valuable tool for gastrointestinal endoscopic imaging, enabling the endoscopist to obtain an “optical biopsy” of the gastrointestinal mucosa during the endoscopic procedure [3–5]. Here,...

Ganglioneuroma (GN) of the gastroin-testinal (GI) tract is rare tumor composed of ganglion cells, nerve fibers, and supporting cells of the enteric nervous system. Diffuse ganglioneuromatosis is associated with multiple endocrine neoplasia IIB (MEN IIB), neurofibro-matosis type I (NF1, also known as von Recklinghausen disease), multiple cu-taneous or GI tract neurofibromatosis, and neurogenic s...

Peutz Jeghers syndrome ( PJ S ) is an autosomal dominant disease that combines hamartomatous polyposis ,a periorificial lentiginose and a high risk of associated cancers. We report the observation of a girl 07 years old of personal historyof acute intestinal intussusception occurred a year ago who consults for signs of early puberty and the onset of vaginal bleeding up to 06 months . The child ...

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS i...

Peutz Jegher’s syndrome is a rare autosomal dominant disorder characterized by the development of hamartomatous polyps and mucocutaneous melanin pigmentation. This case report shows an adult Indian female with intestinal obstruction due to multiple intussusceptions that were caused polyp syndrome. A 32-year-old presented surgical emergency complaints colicky abdominal pain, vomiting melena posi...

Juvenile polyposis syndrome (JPS) is an autosomal dominant syndrome characterized by multiple gastrointestinal hamartomatous polyps in the absence of the extraintestinal features that are classic for other hamartomatous polyposis syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden disease (CD). About 50% of BRRS and >80% of CD demonstrate germ-line mutations in the tumor supp...

BACKGROUND Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by gastrointestinal hamartomatous polyps and mucocutaneous melanin spots. Germline mutation of the serine/threonine kinase 11 (STK11) gene are responsible for PJS. In this study, we investigated the clinical characteristics and molecular basis of the disease in Chinese children with PJS. METHO...

Abstract Introduction : Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by hamartomatous intestinal polyps and mucocutaneous pigmentation. Most cases appear to be linked the mutation of STK11 gene. Patients are at lifetime risk gastrointestinal non-gastrointestinal cancers. Case Presentation The present study offers case this in young woman revealed jejunal ...

Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal...

P eutz–Jegher syndrome (PJS) is a rare autosomal dominant disorder characterized by typical pigmented perioral macules, pigmented spots in the buccal mucosa and digits along with hamartomatous polyps in the gastrointestinal tract. The characteristic clinical course includes recurrent episodes of polyp-induced bowel obstruction, abdominal pain and gastrointestinal bleeding. In addition to polypo...