Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Peutz–Jeghers Syndrome

  • Tilman Vogel
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_4482-2



Peutz–Jeghers syndrome is an autosomal dominantly inherited disorder that is characterized by the combination of:
  1. 1.

    Lentiginosis, i.e., typical pigmented lesions.

  2. 2.

    Hamartomatous polyposis that occurs mainly in the small intestine but also in the colon and the stomach. Extraintestinal hamartomas are rare; possible localizations include the gallbladder, the urinary bladder, the heart, and the respiratory tract.

  3. 3.

    Increased risk for various types of cancer (e.g., pancreas, gastrointestinal tract, bilateral breast cancer, rare gynecological tumors).

The clinical diagnosis is considered established when either two or more hamartomas or at least one hamartoma together with pigment spots or one hamartoma and positive familial history are found (Fig. 1).


Capsule Endoscopy Bilateral Breast Cancer Pigment Spot Intestinal Polyp Hamartomatous Polyp 
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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Department of SurgeryKrankenhaus Maria HilfMönchengladbachGermany