|
The Common Vein Copyright 2008
Definition
Peutz-Jeghers syndrome is an autosomal dominant inherited disorder of the intestinal tract characterized by by intestinal hamartomatous polyps associated with mucocutaneous melanocytic macules typically seen around the The entity is caused by a gene mutation resulting in hamartomas most commonly seen in the small bowel but also in the colon and the stomach, and can be complicated by intestinal intussussception and carcinoma (15 fold increase). Risks of carcinoma in order of relative risk are small bowel, stomach, pancreas, colon, esophagus, ovary, lung and breast. The diagnosis is suspected clinically when family history of the disease is present, and melanocytic lesions (freckles) seen on the face, around the mouth and on the buccal mucosa. Histologically the polypoid lesions shows proliferation of smooth muscle throughout the polyp. Imaging includes the use of colonoscopy, small bowel follow through, enetroclysis and videocapsule imaging. Treatment options depend on the extent of the polyps. If accessible to eneteroscopic polypectomy this should be performed. In patients with intusussception or when malignancy is suspected, surgery is indicated.
The syndrome was first described by Peutz in 1921 who recognized the syndrome in a Dutch family, and further descriptions by Jegher in 1940 helped consolidate the syndrome.
Web References E Medicine Andrea Duchini, MD
|
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Peutz-Jeghers Syndrome with Intusussception
The patient above with polypoid lesions in the small bowel was noted to have intermittant intussusception during the follow through examination. In this image the intussusceptum (pink) is seen within the dilated intussuscipiens where a “stack of coins” or “coil spring effect” of telescoped valvulae are noted.
00512c01 small bowel intussusception upper GI UGI imaging radiology contrast X-Ray fx coil of springs stack of coins dx Peutz- Jeghers Courtesy Ashley Davidoff MD
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Peutz-Jeghers Syndrome with Intusussception
The patient above with polypoid lesions in the small bowel was noted to have intermittant intussusception during the follow through examination. In this image the intussusceptum (pink) is seen within the dilated intussuscipiens where a “stack of coins” or “coil spring effect” of telescoped valvulae are noted.
00512c01 small bowel intussusception upper GI UGI imaging radiology contrast X-Ray fx coil of springs stack of coins dx Peutz- Jeghers Courtesy Ashley Davidoff MD
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00512c01 small bowel intussusception upper GI UGI imaging radiology contrast X-Ray fx coil of springs stack of coins dx Peutz- Jeghers Courtesy Ashley Davidoff MD
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Hamartomas in the Small Bowel – Peutz-Jeghers Syndrome
Young male with buccal melanocytic lesions presents with intermittant colicky abdominal pain. The filling defects seen in the small bowel (green) are consistent with polyps. There is also a loop of small bowel in the right upper quadrant that is dilated. These findings are consistent with hamartomas in the small bowel in a patient with Peutz Jegher’s syndrome and intusussception should be considered.
00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
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Hamartomas in the Small Bowel – Peutz-Jeghers Syndrome
Young male with buccal melanocytic lesions presents with intermittant colicky abdominal pain. The filling defects seen in the small bowel (green) are consistent with polyps. There is also a loop of small bowel in the right upper quadrant that is dilated. These findings are consistent with hamartomas in the small bowel in a patient with Peutz Jegher’s syndrome and intusussception should be considered.
00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
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00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
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00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
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Peutz-Jeghers Syndrome
Hamartomatous Polyp in the Cecum
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The Common Vein Copyright 2008
Definition
Peutz-Jeghers syndrome is an autosomal dominant inherited disorder of the intestinal tract characterized by by intestinal hamartomatous polyps associated with mucocutaneous melanocytic macules typically seen around the
The entity is caused by a gene mutation resulting in hamartomas most commonly seen in the small bowel but also in the colon and the stomach, and can be complicated by intestinal intussussception and carcinoma (15 fold increase). Risks of carcinoma in order of relative risk are small bowel, stomach, pancreas, colon, esophagus, ovary, lung and breast.
The diagnosis is suspected clinically when family history of the disease is present, and melanocytic lesions (freckles) seen on the face, around the mouth and on the buccal mucosa. Histologically the polypoid lesions shows proliferation of smooth muscle throughout the polyp.
Imaging includes the use of colonoscopy, small bowel follow through, enetroclysis and videocapsule imaging.
Treatment options depend on the extent of the polyps. If accessible to eneteroscopic polypectomy this should be performed. In patients with intusussception or when malignancy is suspected, surgery is indicated.
The syndrome was first described by Peutz in 1921 who recognized the syndrome in a Dutch family, and further descriptions by Jegher in 1940 helped consolidate the syndrome.
Peutz-Jeghers Syndrome
Hamartomatous Polyp in the Cecum
12190 colon large bowel cecum fx mass fx polypoid mass dx Peutz-Jegher’s syndrome Peutz-Jeghers syndrome grosspathology Courtesy Barbara Banner MD ask
Hamartomas in the Small Bowel – Peutz-Jeghers Syndrome
Young male with buccal melanocytic lesions presents with intermittant colicky abdominal pain. The filling defects seen in the small bowel (green) are consistent with polyps. There is also a loop of small bowel in the right upper quadrant that is dilated. These findings are consistent with hamartomas in the small bowel in a patient with Peutz Jegher’s syndrome and intusussception should be considered.
00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
Peutz-Jeghers Syndrome with Intusussception
The patient above with polypoid lesions in the small bowel was noted to have intermittant intussusception during the follow through examination. In this image the intussusceptum (pink) is seen within the dilated intussuscipiens where a “stack of coins” or “coil spring effect” of telescoped valvulae are noted.
00512c01 small bowel intussusception upper GI UGI imaging radiology contrast X-Ray fx coil of springs stack of coins dx Peutz- Jeghers Courtesy Ashley Davidoff MD
Web References
E Medicine Andrea Duchini, MD
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The Common Vein Copyright 2008
Definition
Peutz-Jeghers syndrome is an autosomal dominant inherited disorder of the intestinal tract characterized by by intestinal hamartomatous polyps associated with mucocutaneous melanocytic macules typically seen around the
The entity is caused by a gene mutation resulting in hamartomas most commonly seen in the small bowel but also in the colon and the stomach, and can be complicated by intestinal intussussception and carcinoma (15 fold increase). Risks of carcinoma in order of relative risk are small bowel, stomach, pancreas, colon, esophagus, ovary, lung and breast.
The diagnosis is suspected clinically when family history of the disease is present, and melanocytic lesions (freckles) seen on the face, around the mouth and on the buccal mucosa. Histologically the polypoid lesions shows proliferation of smooth muscle throughout the polyp.
Imaging includes the use of colonoscopy, small bowel follow through, enetroclysis and videocapsule imaging.
Treatment options depend on the extent of the polyps. If accessible to eneteroscopic polypectomy this should be performed. In patients with intusussception or when malignancy is suspected, surgery is indicated.
The syndrome was first described by Peutz in 1921 who recognized the syndrome in a Dutch family, and further descriptions by Jegher in 1940 helped consolidate the syndrome.
Peutz-Jeghers Syndrome
Hamartomatous Polyp in the Cecum
12190 colon large bowel cecum fx mass fx polypoid mass dx Peutz-Jegher’s syndrome Peutz-Jeghers syndrome grosspathology Courtesy Barbara Banner MD ask
Hamartomas in the Small Bowel – Peutz-Jeghers Syndrome
Young male with buccal melanocytic lesions presents with intermittant colicky abdominal pain. The filling defects seen in the small bowel (green) are consistent with polyps. There is also a loop of small bowel in the right upper quadrant that is dilated. These findings are consistent with hamartomas in the small bowel in a patient with Peutz Jegher’s syndrome and intusussception should be considered.
00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
Peutz-Jeghers Syndrome with Intusussception
The patient above with polypoid lesions in the small bowel was noted to have intermittant intussusception during the follow through examination. In this image the intussusceptum (pink) is seen within the dilated intussuscipiens where a “stack of coins” or “coil spring effect” of telescoped valvulae are noted.
00512c01 small bowel intussusception upper GI UGI imaging radiology contrast X-Ray fx coil of springs stack of coins dx Peutz- Jeghers Courtesy Ashley Davidoff MD
Web References
E Medicine Andrea Duchini, MD
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00512c01 small bowel intussusception upper GI UGI imaging radiology contrast X-Ray fx coil of springs stack of coins dx Peutz- Jeghers Courtesy Ashley Davidoff MD
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00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
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00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
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The Common Vein Copyright 2008
Definition
Peutz-Jeghers syndrome is an autosomal dominant inherited disorder of the intestinal tract characterized by by intestinal hamartomatous polyps associated with mucocutaneous melanocytic macules typically seen around the
The entity is caused by a gene mutation resulting in hamartomas most commonly seen in the small bowel but also in the colon and the stomach, and can be complicated by intestinal intussussception and carcinoma (15 fold increase). Risks of carcinoma in order of relative risk are small bowel, stomach, pancreas, colon, esophagus, ovary, lung and breast.
The diagnosis is suspected clinically when family history of the disease is present, and melanocytic lesions (freckles) seen on the face, around the mouth and on the buccal mucosa. Histologically the polypoid lesions shows proliferation of smooth muscle throughout the polyp.
Imaging includes the use of colonoscopy, small bowel follow through, enetroclysis and videocapsule imaging.
Treatment options depend on the extent of the polyps. If accessible to eneteroscopic polypectomy this should be performed. In patients with intusussception or when malignancy is suspected, surgery is indicated.
The syndrome was first described by Peutz in 1921 who recognized the syndrome in a Dutch family, and further descriptions by Jegher in 1940 helped consolidate the syndrome.
Peutz-Jeghers Syndrome
Hamartomatous Polyp in the Cecum
12190 colon large bowel cecum fx mass fx polypoid mass dx Peutz-Jegher’s syndrome Peutz-Jeghers syndrome grosspathology Courtesy Barbara Banner MD ask
Hamartomas in the Small Bowel – Peutz-Jeghers Syndrome
Young male with buccal melanocytic lesions presents with intermittant colicky abdominal pain. The filling defects seen in the small bowel (green) are consistent with polyps. There is also a loop of small bowel in the right upper quadrant that is dilated. These findings are consistent with hamartomas in the small bowel in a patient with Peutz Jegher’s syndrome and intusussception should be considered.
00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
Peutz-Jeghers Syndrome with Intusussception
The patient above with polypoid lesions in the small bowel was noted to have intermittant intussusception during the follow through examination. In this image the intussusceptum (pink) is seen within the dilated intussuscipiens where a “stack of coins” or “coil spring effect” of telescoped valvulae are noted.
00512c01 small bowel intussusception upper GI UGI imaging radiology contrast X-Ray fx coil of springs stack of coins dx Peutz- Jeghers Courtesy Ashley Davidoff MD
Web References
E Medicine Andrea Duchini, MD
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The Common Vein Copyright 2008
Definition
Peutz-Jeghers syndrome is an autosomal dominant inherited disorder of the intestinal tract characterized by by intestinal hamartomatous polyps associated with mucocutaneous melanocytic macules typically seen around the
The entity is caused by a gene mutation resulting in hamartomas most commonly seen in the small bowel but also in the colon and the stomach, and can be complicated by intestinal intussussception and carcinoma (15 fold increase). Risks of carcinoma in order of relative risk are small bowel, stomach, pancreas, colon, esophagus, ovary, lung and breast.
The diagnosis is suspected clinically when family history of the disease is present, and melanocytic lesions (freckles) seen on the face, around the mouth and on the buccal mucosa. Histologically the polypoid lesions shows proliferation of smooth muscle throughout the polyp.
Imaging includes the use of colonoscopy, small bowel follow through, enetroclysis and videocapsule imaging.
Treatment options depend on the extent of the polyps. If accessible to eneteroscopic polypectomy this should be performed. In patients with intusussception or when malignancy is suspected, surgery is indicated.
The syndrome was first described by Peutz in 1921 who recognized the syndrome in a Dutch family, and further descriptions by Jegher in 1940 helped consolidate the syndrome.
Peutz-Jeghers Syndrome
Hamartomatous Polyp in the Cecum
12190 colon large bowel cecum fx mass fx polypoid mass dx Peutz-Jegher’s syndrome Peutz-Jeghers syndrome grosspathology Courtesy Barbara Banner MD ask
Hamartomas in the Small Bowel – Peutz-Jeghers Syndrome
Young male with buccal melanocytic lesions presents with intermittant colicky abdominal pain. The filling defects seen in the small bowel (green) are consistent with polyps. There is also a loop of small bowel in the right upper quadrant that is dilated. These findings are consistent with hamartomas in the small bowel in a patient with Peutz Jegher’s syndrome and intusussception should be considered.
00511c01 small bowel dx intussusception fx polyps dx Peutz- Jeghers upper GI UGI imaging radiology contrast X-Ray Courtesy Ashley Davidoff MD
Peutz-Jeghers Syndrome with Intusussception
The patient above with polypoid lesions in the small bowel was noted to have intermittant intussusception during the follow through examination. In this image the intussusceptum (pink) is seen within the dilated intussuscipiens where a “stack of coins” or “coil spring effect” of telescoped valvulae are noted.
00512c01 small bowel intussusception upper GI UGI imaging radiology contrast X-Ray fx coil of springs stack of coins dx Peutz- Jeghers Courtesy Ashley Davidoff MD
Web References
E Medicine Andrea Duchini, MD
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