Peutz-Jeghers syndrome
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Peutz-Jeghers syndrome is a constellation of findings inherited with an autosomal dominant pattern due to a defect in the STK11 gene.
Clinical
Features:[1]
- Melanocytic macules.
- Lips, buccal mucosa, and digits.
- Multiple Peutz-Jeghers polyps.
Increased risk of various neoplasms - primarily:
- Breast and gastrointestinal cancer.[2]
- Others tumours:[3]
- Granulosa cell tumour.
- Sertoli cell tumour - esp. with calcification.
Microscopic
- Frond-like polyp with all three components of mucosa:
- Muscosal epithelium (melanotic mucosa, goblet cells).
- Lamina propria.
- M. mucosae.
Image:
See also
References
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/175200. Accessed on: 13 July 2010.
- ↑ Beggs AD, Latchford AR, Vasen HF, et al. (July 2010). "Peutz-Jeghers syndrome: a systematic review and recommendations for management". Gut 59 (7): 975–86. doi:10.1136/gut.2009.198499. PMID 20581245.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/175200. Accessed on: 22 December 2010.
- ↑ Cite error: Invalid
<ref>tag; no text was provided for refs namedRef_PBoD859 - ↑ Bronner, MP. (Apr 2003). "Gastrointestinal inherited polyposis syndromes.". Mod Pathol 16 (4): 359-65. doi:10.1097/01.MP.0000062992.54036.E4. PMID 12692201. http://www.nature.com/modpathol/journal/v16/n4/full/3880773a.html.