Peutz-Jeghers syndrome

Definition:

Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition in which multiple characteristic polyps occur throughout the gastrointestinal tract. Mucocutaneous pigmented lesions, especially of the vermilion border of the lips, are seen in almost all patients. PJS patients have a considerably increased risk of developing intestinal malignancies. The only known cause for PJS is STK11 mutation.

References:

[1]. A D Beggs, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 Jul;59(7):975-86. [Content Brief]

[2]. V Schumacher, et al. STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. J Med Genet. 2005 May;42(5):428-35. [Content Brief]

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