Peutz-Jeghers syndrome: Four cases in one family

Intractable Rare Dis Res. 2016 Feb;5(1):42-3. doi: 10.5582/irdr.2015.01036.

Abstract

Peutz-Jeghers syndrome (PJS) is a rare, but life-threatening, familial inherited disease, characterized by mucocutaneous pigmentation and hamartomatous polyps. The estimated incidence of PJS ranges from 1/50,000 to 1/200,000. PJS can significantly increase the risk of malignancies, and especially gastrointestinal malignancies. Reported here are 4 cases of PJS in one family.

Keywords: Peutz-Jeghers syndrome; hamartomatous polyp; malignancy.

Publication types

  • Case Reports