

PJS manifests in varying ranges of severity and symptom development. Some patients are diagnosed as children, where others might not be diagnosed until they reach their teen or adult years. The onset of symptoms is the usual catalyst for finding a diagnosis of PJS. Patients will typically develop tens to thousands of hamartomas (benign or pre-cancerous growths) in the stomach and intestines. Most of these polyps will be found in the small intestine. The most common ways of finding polyps, scopes and x-rays, usually fail to show the majority of the polyps in the small intestine. A new diagnosis tool created in Israel is beginning to change this. Information can be found in the "Related Topics" section of this site.
The newest and main concern related to this disorder is the high cancer risk over the general population (ie people without genetic predispositions to cancer). The discovery of this risk has elevated PJS from just a polyps-and-spots disorder to a genetic predisposition to cancer. Patients are encouraged to keep current with all recommended tests and doctor visits. Cancer can be treated easier when caught in its initial stages. Healthcare professionals are urged to work with their patients in keeping abreast of all current developments with PJS and cancer.
UpToDate.com has an extensive page detailing what is involved with this syndrome. Visit that page here. The page is written for professionals, but is useful for patients to have. The Health on the Net Foundation has a list of common names given to the syndrome. Also, names are included for the French, German, Spanish, and Portuguese languages. Click here to visit the site. If you are interested in learning about Dr. Peutz, one of the doctors for which the syndrome is named, go here.