TITLE

Peutz-Jegher syndrome

AUTHOR(S)
Flutter, Laura
PUB. DATE
February 2008
SOURCE
Archives of Disease in Childhood;Feb2008, Vol. 93 Issue 2, p163
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The article reports on the study conducted on a 14-year-old girl with Peutz-Jegher syndrome (PJS) in Great Britain. She was admitted to the hospital because of acute abdomen of unknown cause. After investigation, physicians found that she has iron deficiency anaemia and she denied a history of menorrhagia and she is not vegetarian. Laparotomy was conducted and an intussusception was discovered with diffused small bowel ischaemia. Further examinations were done on the patient and it showed that she had PJS syndrome. It is a rare autosomal dominant condition resulting in hematomatous polyps of the GI tract, sporadic mutation accounts for 50% of cases.
ACCESSION #
30004759

 

Related Articles

  • A role for LKB1 gene in human cancer beyond the Peutz—Jeghers syndrome. Sanchez-Cespedes, M. // Oncogene;12/13/2007, Vol. 26 Issue 57, p7825 

    Germline LKB1 mutations are responsible for Peutz–Jeghers syndrome (PJS). Tumors at several locations frequently arise in these patients, confirming that LKB1 is linked to cancer predisposition and is therefore a bona fide tumor-suppressor gene. In humans, the LKB1 gene is located in the...

  • Genotype-phenotype correlations in Peutz-Jeghers syndrome. Amos, C.I.; Keitheri-Cheteri, M.B.; Sabripour, M.; Wei, C.; McGarrity, T.J.; Seldin, M.F.; Nations, L.; Lynch, P.M.; Fidder, H.H.; Friedman, E.; Frazier, M.L. // Journal of Medical Genetics;May2004, Vol. 41 Issue 5, p327 

    Background and aims: Peutz-Jeghers syndrome (PJS) is a dominantly inherited disorder often caused by mutations in STK11. Time to onset of symptoms was characterised for a large collection of individuals with PJS who had been tested for STK11 mutations and genotype-phenotype correlations were...

  • Cancer risks in LKB1 germline mutation carriers. Mehenni, H.; Resta, N.; Park, J-G.; Miyaki, M.; Guanti, G.; Costanza, M. C. // Gut;Jul2006, Vol. 55 Issue 7, p984 

    Background and aims: Germline mutations in the LKB1 gene are known to cause Peutz-Jeghers syndrome, which is an autosomal dominant disorder characterised by hamartomatous polyposis and mucocutaneous pigmentation. This syndrome is associated with an increased risk of malignancies in different...

  • Peutz-Jeghers syndrome presenting with small bowel obstruction as an emergency. Kumar, Addala Pavan; Shetty, Prashanth; Rao, B. H. Anand // Internet Journal of Surgery;2008, Vol. 16 Issue 2, p9 

    Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disorder. Giardello et al. proposed diagnostic criteria for PJS: The definition requires histopathological confirmation of hamartomatous gastrointestinal polyps and two of the following features: small bowel polyposis, positive...

  • PIGMENTED NAILS IN PEUTZ--JEGHERS SYNDROME. Valero, A.; Sherf, K. // American Journal of Gastroenterology;Jan1965, Vol. 43 Issue 1, p56 

    Discusses the occurrence of nail pigmentation in Peutz-Jeghers syndrome. Association of spotty melanin pigmentation with gastrointestinal polyposis; Histology of the pigmented spots in Peutz-Jeghers syndrome; Information on the other causes of pigmented nails.

  • Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications. Resta, Nicoletta; Lauriola, Libero; Puca, Alfredo; Susca, Francesco C.; Albanese, Alessio; Sabatino, Giovanni; Di Giacomo, Marilena C.; Gessi, Marco; Guanti, Ginevra // Acta Neuropathologica;Jul2006, Vol. 112 Issue 1, p106 

    The Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder caused by inactivating germline mutations in the serine–threonine kinase gene LKB1, is characterized by mucocutaneous pigmentation, multiple gastrointestinal hamartomatous polyps, and by an increased risk for developing...

  • Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. Hearle, Nicholas CM; Tomlinson, Ian; Lim, Wendy; Murday, Victoria; Swarbrick, Edwin; Lim, Guan; Phillips, Robin; Lee, Peter; O'Donohue, John; Trembath, Richard C; Morrison, Patrick J; Norman, Andrew; Taylor, Rohan; Hodgson, Shirley; Lucassen, Anneke; Houlston, Richard S // BMC Genomics;2005, Vol. 6, p1 

    Background: Germline mutations or large-scale deletions in the coding region and splice sites of STK11/LKB1 do not account for all cases of Peutz-Jeghers syndrome (PJS). It is conceivable that, on the basis of data from other diseases, inherited variation in promoter elements of STK11/LKB1 may...

  • STRAD in Peutz-Jeghers syndrome and sporadic cancers. de Leng, W. W. J.; Keller, J. J.; Luiten, S.; Musler, A. R.; Jansen, M.; Baas, A. F.; de Rooij, F. W. M.; Gille, J. J. P.; Menko, F. H.; Offerhaus, G. J. A.; Weterman, M. A. J. // Journal of Clinical Pathology;Oct2005, Vol. 58 Issue 10, p1091 

    Background/Aims: LKB1 is a tumour suppressor gene that is associated with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant cancer predisposition syndrome. However, germline mutations in the LKB1 gene are found in only about 60% of patients with PJS, suggesting the existence of a second...

  • Peutz-Jeghers Syndrome. McGarrity, Thomas J.; Kulin, Howard E.; Zaino, Richard J. // American Journal of Gastroenterology;Mar2000, Vol. 95 Issue 3, p596 

    Peutz-Jeghers syndrome (PJS) is an unusual polyposis syndrome that has enjoyed a rich and somewhat confusing history. Mucocutaneous pigmentation and diffuse gastrointestinal hamartomas are the hallmark features of this autosomal dominant inherited condition. Peutz-Jeghers syndrome is now also...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics