Peutz-Jeghers syndrome
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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.
Complications
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.
-</ul><h4>Pathology</h4><p>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 <a href="/articles/cronkhitecanada-syndrome">Cronkhite-Canada syndrome</a>, <a href="/articles/juvenile-polyposis">juvenile polyposis</a> and <a href="/articles/cowden-syndrome">Cowden disease</a><sup> 1</sup>.</p><h4>Complications</h4><p>Patients are at increased risk of:</p><ul>- +</ul><h4>Pathology</h4><p>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 <a href="/articles/cronkhitecanada-syndrome">Cronkhite-Canada syndrome</a>, <a href="/articles/juvenile-polyposis">juvenile polyposis</a> and <a href="/articles/cowden-syndrome">Cowden disease</a><sup> 1</sup>.</p><p>Patients are at increased risk of:</p><ul>
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