نتایج جستجو برای: jeghers syndrome
تعداد نتایج: 622021 فیلتر نتایج به سال:
Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the small bowel and mucocutaneous pigmentation. Patients with Peutz-Jeghers syndrome often present as surgical emergencies with complications of the polyps, such as intussusception, bowel obstruction and bleeding. Furthermore, repeated operations may be needed in some patients, which may ...
peutz–jeghers syndrome is a rare condition characterized by mucocutaneous pigmentation, polyposis and an increased cancer risk at a number of gastrointestinal and extra intestinal organs. we present a patient with a history of gastrointestinal bleeding with no mucocutaneous pigmentation. upper and lower gastrointestinal endoscopy revealed multiple polyps located in the deuodenum and colon. hist...
BACKGROUND Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited. EXPERIMENTAL DESIGN We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations. R...
Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of an adult patient diagnosed with an atypical form of Peutz-Jeghers syndrome, thereby emphasizing the different poss...
Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous polyposis of the gastrointestinal tract, with pigmentation around lips, the buccal mucosa, and anal area. Patients have a strong family history. Patients of PJS present with abdominal pain, blood in stools, and occasionally melena because of polyps, along with classical mucocutaneous pigmentation. Very rarely a sporadic case of...
Patients with the Peutz-Jeghers syndrome carry a slight, though definite, increased risk of gastrointestinal carcinoma.The malignant potentiality of Peutz-Jeghers hamartomatous polyps, generally considered benign, is supported by this report. Two cases of metastasising gastrointestinal carcinoma associated with the Peutz-Jeghers syndrome are described in a 56 year old female and her 29 year old...
1. Thull DL, Vogel VG. Recognition and management of hereditary breast cancer syndromes. Oncologist. 2004;9:13–24. 2. Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat. 2005;26:513–9. 3. Volikos E, Robinson J, Aittomaki K, Mecklin JP, Järvinen H, Westerman AM, et al. LKB1 exonic and whole g...
conclusions the patients with diffuse pjs may be asymptomatic and without gastrointestinal or extragastrointestinal malignancies. introduction peutz-jeghers syndrome (pjs) is a rare disorder characterized by mucocutaneous perioral pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk of malignancy. families with pjs may show a variable spectrum of manifestations in spite...
A 19-year old male presented with melena and anemia. A duodenoscopy revealed no abnormalities, but a small bowel X-ray series demonstrated a large jejunal polyp. This 4 cm large polyp was visualised during peroperative small bowel endoscopy and was subsequently surgically removed. The polyp had the characteristic histologic appearance of a Peutz-Jeghers type polyp, but the patient had no other ...
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