What is Peutz-Jeghers syndrome?
Peutz-Jeghers syndrome (PJS) is a genetic disorder that causes abnormal growths of tissue called hamartomas in the intestines and spots of dark skin freckling (mucocutaneous pigmentation) around the mouth, eyes, nostrils, fingers as well as inside the mouth. People with Peutz-Jeghers syndrome are at increased risk for developing some types of cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.
McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers Syndrome. 2001 Feb 23 [Updated 2016 Jul 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
NORD, Peutz Jeghers Syndrome, Rare Disease Database, updated 2018, https://rarediseases.org/rare-diseases/peutz-jeghers-syndrome/ Accessed 28NOV19.