cronkhite- canada 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-o...

INTRODUCTION Peutz-Jegher's syndrome is a rare autosomal dominant disorder that typically manifests itself as recurrent colicky abdominal pain and blood loss in stools. In adults, it is only rarely accompanied by frank intussusception and intestinal obstruction. We encountered an adult Asian Indian male who presented with an intestinal obstruction due to jejunoileal intussusception. It was caus...

Peutz-Jeghers syndrome (PJS) is a hereditary disorder characterized by gastrointestinal hamartomatous polyposis associated with mucocutaneous pigmentation. Germ-line mutations of the gene encoding LKB1 (STK11), a serine/threonine kinase, are identified in most PJS patients. To investigate the role of LKB1 in the PJS phenotypes, we introduced a germ-line mutation in the mouse Lkb1 gene by homolo...

Hamartomatous polyps of the palatine tonsil are very rare. They have been variously termed as a lymphangiectatic fibrous polyp, lipoma, pedunculated tonsil etc. in the English literature. We present here a case of hamartomatous polyp of the tonsil occurring in a 32-year-old male who presented with bilateral enlarged palatine tonsils with recurrent tonsillitis. Surgical excision showed two pale ...

A 55-year-old man presented to our department complaining of profuse diarrhea and poor appetite for 1 month. He also reported weight loss of about 6 kg over 2 months. His medical history revealed diabetes mellitus, although well controlled. On physical examination, his fingernails and toenails were dry and dystrophic (Fig. 1A and 1B). We also noticed hyperpigmentation in both palms (Fig. 1C) an...

ry included a grandfather with small-bowell polyposis, a father with skin melanosis, and a brother diagnosed with PeutzJeghers syndrome. He developed a solitary giant rectal polyp that prolapsed. On physical examination, the most remarkable sign encountered was the presence of hyperpigmented maculae on the face, lips, and oral mucosa (Fig. 1). She was operated on for ileocolic invagination. For...

Colonic hamartomas are rare polypoid lesions. We report an unusual case of multiple colonic hamartomatous polyps, including a giant hamartoma, unrelated to hereditary or familial polyposis syndromes, in a 48-year-old man. The diameter of the largest polyp was 9.5 cm, and endoscopy revealed that the lesion caused colonic obstruction. The clinical, endoscopic and histological aspects of this case...

Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly intere...