Peutz-Jeghers Syndrome (logo ©2002-08 L. Branch)

Peutz-Jeghers Syndrome (PJS), a rare disorder that is either inherited from a parent or occurs spontaneously, is finally experiencing a strong upsurge in research and diagnosis options. This site seeks to offer information to patients, family, friends, and medical personnel. Any information provided is for general use only. It is not intended as medical advice or diagnosis, and it should not be relied on as a substitute for consultation and treatment with qualified health professionals. No warranty or guarantee is granted or implied.

Persons with PJS have hamaratomas predominately in the small intestine as well fewer amounts of the polyps in the large intestine and stomach. Purple/black pigment spots often dot the lips and other areas of the face and body. Most of the time, the spots disappear sometime in the teen years. Age at diagnosis depends on the severity of symptoms. New research has shown that there is an increased risk of cancer over the general population. STK11 has been identified as the gene location for the syndrome. Current genetic testing can identify a mutation in 30-80% of PJS patients. A new method is in testing that promises to increase genetic identification.

info@peutz-jeghers.com
Update: 24.June'07