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Peutz–Jeghers: A Hamartomatous Polyposis Syndrome
Image of the Month Peutz–Jeghers: A Hamartomatous Polyposis Syndrome EDWARD L. JONES,* CSABA GAJDOS,* and SACHIN WANI‡ *Department of Surgery, ‡Department of Gastroenterology, University of Colorado, Aurora, Colorado
A
25-year-old woman presented with intermittent postprandial bloating and passage of bright red blood per rectum for the past 2 weeks. The patient has a medical history of Peutz–Jegher’s syndrome and has undergone 2 previous laparotomies for small-bowel obstructions. Computed tomography (Figure A) showed 2 masses distal to the ligament of Treitz. Esophagogastroduodenoscopy and small-bowel enteroscopy showed several small sessile polyps in the stomach and a large, nearly obstructing, jejunal mass (Figure B). Colonoscopy was unremarkable. The patient underwent exploratory laparotomy, and 5 palpable lesions were encountered. These were removed systematically through separate enterotomies and a simple repair without bowel resection (Figure C). The patient recovered uneventfully. Final pathology was consistent with hamartomatous polyps without evidence of malignancy. Peutz–Jeghers syndrome is a rare autosomal-dominant syndrome that was named for Dr Peutz in 1921. He reported on 10 family members over 3 generations with pigmentation of the oral mucosa, one of whom required removal of a small-bowel polyp after intussusception. More than 2 decades later, in 1949, Jeghers et al identified 10 cases of patients with pigmentation of the mouth, lips, and oral cavity that also were associated with polyps of the small intestine.1 Shortly thereafter, in 1954, the term Peutz–Jeghers syndrome was coined by Bruwer et al, describing patients who had both oral pigmentation and small intestinal polyps, and this remains the moniker today.2 Consistent with Dr Peutz’s first article, patients almost universally have pigmentation of the lips, but melanosis of the mouth, nose, and extremities have been described.3 Most intestinal polyps are found in the jejunum and ileum but can be seen anywhere in the gastrointestinal tract and vary widely in both size and number. Patients usually are diagnosed in their second decade of life as a result of recurring episodes of abdominal pain or anemia secondary to intussusception or bleeding polyps.
The presence of polyps leads to increased risk of gastric, small intestine, and colorectal cancer. An increased risk for other cancers, specifically of the reproductive organs, pancreas, and gallbladder, also has been described.4 As such, frequent endoscopic screening is recommended every 2 to 3 years including colonoscopy, small-bowel enteroscopy, or contrast studies. Surgery is recommended for rapidly enlarging polyps or those greater than 1 cm in size owing to their increased risk of malignancy. Symptomatic patients should undergo an attempt to clear the small intestine of polyps during surgery.5,6
References 1. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of oral mucosa, lips and digits. N Eng J Med 1949;241:993–1005. 2. Bruwer A, Bargen JA, Kierland RR. Surface pigmentation and generalized intestinal polyposis; (Peutz-Jeghers syndrome). Mayo Clin Proc 1954;29:168 –171. 3. Peutz JL. A very remarkable case of familial polyposis of mucous membrane of intestinal tract and accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Maandischr v Geneesk 1921;10:134 –146. 4. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000; 119:1447–1453. 5. Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin North Am 2008;88:779 – 817. 6. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006;4:408 – 415.
Conflicts of interest The authors disclose no conflicts. © 2013 by the AGA Institute 1542-3565/$36.00 http://dx.doi.org/10.1016/j.cgh.2012.11.024
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY 2013;11:xxvi
A
25-year-old woman presented with intermittent postprandial bloating and passage of bright red blood per rectum for the past 2 weeks. The patient has a medical history of Peutz–Jegher’s syndrome and has undergone 2 previous laparotomies for small-bowel obstructions. Computed tomography (Figure A) showed 2 masses distal to the ligament of Treitz. Esophagogastroduodenoscopy and small-bowel enteroscopy showed several small sessile polyps in the stomach and a large, nearly obstructing, jejunal mass (Figure B). Colonoscopy was unremarkable. The patient underwent exploratory laparotomy, and 5 palpable lesions were encountered. These were removed systematically through separate enterotomies and a simple repair without bowel resection (Figure C). The patient recovered uneventfully. Final pathology was consistent with hamartomatous polyps without evidence of malignancy. Peutz–Jeghers syndrome is a rare autosomal-dominant syndrome that was named for Dr Peutz in 1921. He reported on 10 family members over 3 generations with pigmentation of the oral mucosa, one of whom required removal of a small-bowel polyp after intussusception. More than 2 decades later, in 1949, Jeghers et al identified 10 cases of patients with pigmentation of the mouth, lips, and oral cavity that also were associated with polyps of the small intestine.1 Shortly thereafter, in 1954, the term Peutz–Jeghers syndrome was coined by Bruwer et al, describing patients who had both oral pigmentation and small intestinal polyps, and this remains the moniker today.2 Consistent with Dr Peutz’s first article, patients almost universally have pigmentation of the lips, but melanosis of the mouth, nose, and extremities have been described.3 Most intestinal polyps are found in the jejunum and ileum but can be seen anywhere in the gastrointestinal tract and vary widely in both size and number. Patients usually are diagnosed in their second decade of life as a result of recurring episodes of abdominal pain or anemia secondary to intussusception or bleeding polyps.
The presence of polyps leads to increased risk of gastric, small intestine, and colorectal cancer. An increased risk for other cancers, specifically of the reproductive organs, pancreas, and gallbladder, also has been described.4 As such, frequent endoscopic screening is recommended every 2 to 3 years including colonoscopy, small-bowel enteroscopy, or contrast studies. Surgery is recommended for rapidly enlarging polyps or those greater than 1 cm in size owing to their increased risk of malignancy. Symptomatic patients should undergo an attempt to clear the small intestine of polyps during surgery.5,6
References 1. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of oral mucosa, lips and digits. N Eng J Med 1949;241:993–1005. 2. Bruwer A, Bargen JA, Kierland RR. Surface pigmentation and generalized intestinal polyposis; (Peutz-Jeghers syndrome). Mayo Clin Proc 1954;29:168 –171. 3. Peutz JL. A very remarkable case of familial polyposis of mucous membrane of intestinal tract and accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Maandischr v Geneesk 1921;10:134 –146. 4. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000; 119:1447–1453. 5. Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin North Am 2008;88:779 – 817. 6. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006;4:408 – 415.
Conflicts of interest The authors disclose no conflicts. © 2013 by the AGA Institute 1542-3565/$36.00 http://dx.doi.org/10.1016/j.cgh.2012.11.024
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY 2013;11:xxvi