Peutz-Jeghers syndrome diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]
Overview
The diagnosis of Peutz-Jeghers syndrome is made when at least 2 of the following 3 diagnostic criteria are met: positive family history, mucocutaneous pigmentation, and presence of hamartomatous polyps.
Diagnostic Criteria
The diagnosis of Peutz-Jeghers syndrome is made when at least 1 of the following diagnostic criteria are met:[1][2]
- Two or more histologically confirmed PJS-type hamartomatous polyps
- Any number of PJS-type polyps detected in one individual who has a family history of PJS in at least one close relative
- Characteristic mucocutaneous pigmentation in an individual who has a family history of PJS in at least one close relative
- Any number of PJS-type polyps in an individual who also has characteristic mucocutaneous pigmentation
References
- ↑ Belew M, Porath J, Sundberg L (1975). "The trypsin and chymotrypsin inhibitors in chick peas (Cicer arietinum L.). Purification and properties of the inhibitors". Eur J Biochem. 60 (1): 247–58. PMID https://www.ncbi.nlm.nih.gov/books/NBK1266/#pjs Check
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value (help). - ↑ Beggs, A. D.; Latchford, A. R.; Vasen, H. F. A.; Moslein, G.; Alonso, A.; Aretz, S.; Bertario, L.; Blanco, I.; Bulow, S.; Burn, J.; Capella, G.; Colas, C.; Friedl, W.; Moller, P.; Hes, F. J.; Jarvinen, H.; Mecklin, J.-P.; Nagengast, F. M.; Parc, Y.; Phillips, R. K. S.; Hyer, W.; Ponz de Leon, M.; Renkonen-Sinisalo, L.; Sampson, J. R.; Stormorken, A.; Tejpar, S.; Thomas, H. J. W.; Wijnen, J. T.; Clark, S. K.; Hodgson, S. V. (2010). "Peutz-Jeghers syndrome: a systematic review and recommendations for management". Gut. 59 (7): 975–986. doi:10.1136/gut.2009.198499. ISSN 0017-5749.