Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is one of the polyposis syndromes. It has an autosomal dominant inheritance and is characterised by:

  • multiple hamartomatous polyps, most commonly involving the small intestine (predominantly the ileum), but also colon and stomach; mouth and oesophagus are spared
  • mucocutaneous melanin pigmentation involving the mouth, fingers and toes

Pathology

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:

  • intussusception
  • GI tract adenocarcinoma, although the polyps themselves are not premalignant
  • extraintestinal malignancies:
    • adenoma malignum (adenocarcinoma subtype of the cervix)
    • breast
    • pancreas
    • ovary: sex cord tumours
    • testis: Sertoli cell tumours
    • lung
    • uterus

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.

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Article Information

rID: 12954
Section: Syndromes
Synonyms or Alternate Spellings:
  • Peutz-Jeghers syndrome

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    Case 1: with intussusception
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    Case 2
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    Multiple gastric ...
    Case 3
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    Case 4
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    Case 5: with intussusception
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