Intractable Rare Dis Res. 2016;5(1):42-43. (DOI: 10.5582/irdr.2015.01036)
Peutz-Jeghers syndrome: Four cases in one family.
Wang R, Qi XS, Liu X, Guo XZ
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