Peutz-Jegher's syndrome: A diagnosis clinched on histopathology
Keywords:
Peutz-Jegher's syndrome, Autosomal, Malignancy,
Abstract
Peutz Jeghers syndrome (PJS) is an inherited autosomal dominant disorder characterised by hamartomatous polyp in the gastrointestinal tract and pigmented mucocutaneous lesion. Data on prevalence of PJS in India is not available. PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumours).we report here a case of 18 year old male with Peutz Jeghers syndrome.References
1. Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis.2009;24:865–874.
2. Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 2009;23:219–231.
3. Connor JT. Aesculapian society of London. Lancet. 1895;2:1169.
4. Hutchinson J. Pigmentation of lips and mouth. Arch Surg. 1896;7:290.
5. Peutz JLA. Over een zeer merkwaardige, gecombineerde familiaire pollyposis van de sligmliezen van den tractus intestinalis met die van de neuskeelholte en gepaard met eigenaardige pigmentaties van huid-en slijmvliezen (Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane; in Dutch). Nederl Maandschr v Geneesk 1921; 10: 134-146.
6. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med 1949;24:1031-1036.
7. Mehenni H, Blouin JL, Radhakrishna U, Bhardwaj SS, Bhardwaj K. Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.Am J Hum Genet.1997;61:1327-1334.
8. Hamartomatous polyposis syndromes. Zbuk KM, Eng C. Nat Clin Pract Gastroenterol Hepatol.2007 Sep;4(9):492-502.
9. Vesna Živković et al. Hereditary Hamartomatous Gastrointestinal Polyposis Syndrome. Scientific Journal of the Faculty of Medicine in Niš 2010;27(2):93-103.
10. Marcela Kopacova, Ilja Tacheci, Stanislav Rejchrt, Jan Bures. Peutz-Jeghers syndrome: Diagnostic and therapeutic approach. World J Gastroenterol 2009;15(43):5397-5408.
11. Michael Manfredi. Hereditary Hamartomatous Polyposis Syndromes: Understanding the Disease Risks As Children Reach Adulthood. Gastroenterology & Hepatology. 2010;6:185-196.
12. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12:3209-3215.
13. Karl H. Perzin, Mary F. Bridge. Adenomatous and Carcinomatous Changes in Hamartomatous Polyps of the Small Intestine (PeutzJeghers Syndrome): Cancer 1982;49: 971-983.
2. Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 2009;23:219–231.
3. Connor JT. Aesculapian society of London. Lancet. 1895;2:1169.
4. Hutchinson J. Pigmentation of lips and mouth. Arch Surg. 1896;7:290.
5. Peutz JLA. Over een zeer merkwaardige, gecombineerde familiaire pollyposis van de sligmliezen van den tractus intestinalis met die van de neuskeelholte en gepaard met eigenaardige pigmentaties van huid-en slijmvliezen (Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane; in Dutch). Nederl Maandschr v Geneesk 1921; 10: 134-146.
6. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med 1949;24:1031-1036.
7. Mehenni H, Blouin JL, Radhakrishna U, Bhardwaj SS, Bhardwaj K. Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.Am J Hum Genet.1997;61:1327-1334.
8. Hamartomatous polyposis syndromes. Zbuk KM, Eng C. Nat Clin Pract Gastroenterol Hepatol.2007 Sep;4(9):492-502.
9. Vesna Živković et al. Hereditary Hamartomatous Gastrointestinal Polyposis Syndrome. Scientific Journal of the Faculty of Medicine in Niš 2010;27(2):93-103.
10. Marcela Kopacova, Ilja Tacheci, Stanislav Rejchrt, Jan Bures. Peutz-Jeghers syndrome: Diagnostic and therapeutic approach. World J Gastroenterol 2009;15(43):5397-5408.
11. Michael Manfredi. Hereditary Hamartomatous Polyposis Syndromes: Understanding the Disease Risks As Children Reach Adulthood. Gastroenterology & Hepatology. 2010;6:185-196.
12. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12:3209-3215.
13. Karl H. Perzin, Mary F. Bridge. Adenomatous and Carcinomatous Changes in Hamartomatous Polyps of the Small Intestine (PeutzJeghers Syndrome): Cancer 1982;49: 971-983.
Published
2016-03-09
Issue
Section
Case Reports
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).
