Peutz–Jeghers syndrome

181 Peutz–Jeghers syndrome



Instruction


Look at this patient’s face.



Salient features



History




• Pain in the abdomen as a result of intestinal intussusception


• Haemorrhage in the upper GI tract or rectal bleeding


• Family involvement (autosomal dominant).



Examination




• Pigmented freckles around the lips (Fig. 181.1A).


image

Fig. 181.1 Peutz–Jeghers syndrome. (A) Cutaneous pigmentation on the lips. (B) Pigment changes in the buccal mucosa.


(With permission from Winship, Dudding 2008.)


Proceed as follows:



• Look in the mouth for similar pigmentation (Fig. 181.1B) and anaemia.



Diagnosis


This patient has pigmented freckles arounds the lips (lesions) caused by Peutz–Jeghers syndrome (aetiology).



Advanced-level questions




What are the types of colonic polyp?




• Tubular adenomas: over 60% are in the rectosigmoid colon and may cause bleeding or obstruction. The risk of malignancy correlates with size. The tubular adenoma is removed endoscopically. Follow-up surveillance is by colonoscopy every 2 years.


• Villous adenomas are usually found in the left colon and have a high risk of malignancy. Polyps larger than 2 cm have a 50% risk of malignancy. They may present with hypokalaemia as a result of potassium loss in the stools. They are removed by colonoscopic resection.


• Hyperplastic polyps are benign and rarely undergo malignant change. They are usually detected as an incidental finding at colonoscopy.



What is the histology of polyps in Peutz–Jeghers syndrome?


The polyps, which are large and pedunculated, histologically show an arborizing network of connective tissue and well-developed smooth muscle that extends into the polyp and surrounds; normal abundant glands are lined by normal intestinal epithelium rich in goblet cells. Polyps are distributed in the small bowel (100%), stomach (25%) and colon (30%).

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Dec 4, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on Peutz–Jeghers syndrome

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