Korean J Gastroenterol.  2013 Oct;62(4):243-247. 10.4166/kjg.2013.62.4.243.

A Case of Crohn's Disease Accompanied by Peutz-Jeghers Syndrome

• Um YJ
• Kim SM
• Pyo JS
• Lee JA
• Koo HS
• Huh KC

• KMID: 1792744
• DOI: http://doi.org/10.4166/kjg.2013.62.4.243

Abstract

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Peutz-Jeghers syndrome has an incidence of approximately 1 in 25,000 to 300,000 births. Crohn's disease is a chronic inflammatory bowel disease that typically manifests as regional enteritis with its incidence ranging from 3.1 to 14.6 cases per 100,000 person-years in North America. Herein, we report a case of a 30-year-old male patient who had both Peutz-Jeghers syndrome and Crohn's disease. We believe that this is the first case in Korea and the second report in the English literatures on Peutz-Jeghers syndrome coincidentally accompanied by Crohn's disease.

Keyword

Peutz-Jeghers syndrome; Crohn disease; Hamartomatous polyp; Inflammatory bowel diseases

MeSH Terms

Adult
Crohn Disease/complications/*diagnosis/pathology
Endoscopy, Gastrointestinal
Humans
Intestinal Obstruction/etiology
Intestinal Perforation/etiology
Intestinal Polyps/pathology/surgery
Male
Peutz-Jeghers Syndrome/complications/*diagnosis/genetics
Protein-Serine-Threonine Kinases/genetics
Protein-Serine-Threonine Kinases

Figure

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  Fig. 1. Pigmentations are noted on the lips and facial skin.

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  Fig. 2. Endoscopic findings. (A) Multiple polyps of variable sizes are observed in the stomach. Longitudinal ulcer (B) and hamartomatous polyps (C) are also found in the colon.

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  Fig. 3. (A) Histologic examination of a resected polyp demonstrates branching bundles of smooth muscle fibers covered by hyperplastic mucosa compatible with hamartoma which is typical of a Peutz-Jeghers syndrome polyp (H&E, ×10). (B) Chronic inflammatory lesion with granuloma (arrow), suggestive Crohn's disease, is also observed (H&E, ×100).

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  Fig. 4. Follow-up colonoscopy after treatment shows resolution of previously noted ulcerative lesions.

Reference

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