Peutz-Jeghers syndrome is one of the polyposis syndromes. It has an autosomal dominant inheritance and is characterized by:
- multiple hamartomatous polyps, most commonly involving the small intestine (predominantly the ileum), but also colon and stomach; mouth and esophagus are spared
- mucocutaneous melanin pigmentation involving the mouth, fingers and toes
Peutz-Jeghers polyps are non-neoplastic hamartomas due to the proliferation of all three layers of the mucosa, which have a characteristic feature of a smooth muscle core continuous with muscularis mucosa in a tree-like branching pattern. This distinguishes them from the hamartomatous polyps of Cronkhite-Canada syndrome, juvenile polyposis and Cowden disease 1.
Patients are at increased risk of:
- GI tract adenocarcinoma, although the polyps themselves are not premalignant
- extraintestinal malignancies:
- adenoma malignum (adenocarcinoma subtype of the cervix)
- ovary: sex cord tumors
- testis: Sertoli cell tumors
History and etymology
The syndrome is named after Jans Peutz (1886-1957), a Dutch physician and Harold Jeghers (1904-1990), an American physician who had successively described the association between polyposis and the mucocutaneous macules.
- 1. Buck JL, Harned RK, Lichtenstein JE et-al. Peutz-Jeghers syndrome. Radiographics. 1992;12 (2): 365-78. Radiographics (abstract) - Pubmed citation
- 2. Brant WE, Helms CA. Fundamentals of diagnostic radiology. Lippincott Williams & Wilkins. (2007) ISBN:0781761352. Read it at Google Books - Find it at Amazon
- 3. Hearle N, Schumacher V, Menko FH et-al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin. Cancer Res. 2006;12 (10): 3209-15. doi:10.1158/1078-0432.CCR-06-0083 - Pubmed citation