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Peutz–Jeghers syndrome (PJS) is a rare, autosomal dominant inherited disorder characterized by hamartomatous polyps in the gastrointestinal tract and distinctive mucocutaneous pigmentation.

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• It carries a significantly increased lifetime risk of gastrointestinal and extraintestinal malignancies.

https://www.youtube.com/watch?v=8IYsyR0ELLE

Etiopathogenesis

Genetic and molecular basis:

Clinical features

I. Mucocutaneous Pigmentation

• Flat, dark blue-to-brown freckle-like spots
• Commonly on lips, oral mucosa, nose, hands, feet, and perianal area
• Often present in infancy or early childhood; may fade with age

![A 45-year-old man presented to the emergency department with sudden-onset abdominal pain and vomiting. On physical examination, his abdomen was diffusely tender, and he had hyperpigmented macules on the lips, oral mucosa, and nose (Panel A). His two sons had previously presented with abdominal pain due to intussusception and had undergone bowel resection. A CT scan of the patient’s abdomen showed a target sign (Panel B, arrow), which is characteristic of intussusception. Emergency laparotomy confirmed the presence of jejunojejunal intussusception with areas of necrosis. Multiple polyps were palpated throughout this section of the bowel. Because of the necrosis and concern about recurrence, the length of jejunum that contained polyps was resected (Panel C), and end-to-end anastomosis was performed. Histopathological evaluation of the resected segment revealed multiple hamartomatous polyps. On the basis of the mucocutaneous hyperpigmentation, multiple hamartomatous polyps in the gastrointestinal tract, and family history, a diagnosis of the Peutz–Jeghers syndrome was made. This autosomal dominant disorder is associated with an increased risk of gastrointestinal and extraintestinal cancers. The patient recovered well after the surgery and has undergone appropriate cancerscreening tests, which have been negative to date.

Sengupta S, Bose S. Peutz–Jeghers Syndrome. New England Journal of Medicine. 2019;380(5):472-472. doi:https://doi.org/10.1056/nejmicm1806623](attachment:71ac8f18-9b8f-45be-83ef-6fcf8e7c7308:nejmicm1806623_f1.jpg)

A 45-year-old man presented to the emergency department with sudden-onset abdominal pain and vomiting. On physical examination, his abdomen was diffusely tender, and he had hyperpigmented macules on the lips, oral mucosa, and nose (Panel A). His two sons had previously presented with abdominal pain due to intussusception and had undergone bowel resection. A CT scan of the patient’s abdomen showed a target sign (Panel B, arrow), which is characteristic of intussusception. Emergency laparotomy confirmed the presence of jejunojejunal intussusception with areas of necrosis. Multiple polyps were palpated throughout this section of the bowel. Because of the necrosis and concern about recurrence, the length of jejunum that contained polyps was resected (Panel C), and end-to-end anastomosis was performed. Histopathological evaluation of the resected segment revealed multiple hamartomatous polyps. On the basis of the mucocutaneous hyperpigmentation, multiple hamartomatous polyps in the gastrointestinal tract, and family history, a diagnosis of the Peutz–Jeghers syndrome was made. This autosomal dominant disorder is associated with an increased risk of gastrointestinal and extraintestinal cancers. The patient recovered well after the surgery and has undergone appropriate cancerscreening tests, which have been negative to date.

Sengupta S, Bose S. Peutz–Jeghers Syndrome. New England Journal of Medicine. 2019;380(5):472-472. doi:https://doi.org/10.1056/nejmicm1806623

II. Gastrointestinal Polyps

• Intussusception (especially in children)
• Anemia |

![a) H&E stained tissue of a Peutz-Jeghers syndrome hamartoma, showing the branched smooth muscle core; (b) Endoscopic picture of a pedunculated small bowel polyp in a Peutz-Jeghers syndrome patient.

Korsse, S., van Leerdam, M. & Dekker, E. Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome. Br Dent J 222, 214–217 (2017). https://doi.org/10.1038/sj.bdj.2017.127](attachment:6392ceb0-f221-4883-a936-d28d31a1d431:41415_2017_Article_BFsjbdj2017127_Fig3_HTML.webp)

a) H&E stained tissue of a Peutz-Jeghers syndrome hamartoma, showing the branched smooth muscle core; (b) Endoscopic picture of a pedunculated small bowel polyp in a Peutz-Jeghers syndrome patient.

Korsse, S., van Leerdam, M. & Dekker, E. Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome. Br Dent J 222, 214–217 (2017). https://doi.org/10.1038/sj.bdj.2017.127

Cancer risk