Peutz Jeghers Syndrome
Peutz Jeghers Syndrome

Video Endoscopic Sequence 1 of 47.

Peutz Jeghers Syndrome

A 32 year-old female, who suffers from Peutz-Jeghers syndrome, as an interesting fact had been surgically operated on a intestinal Intussusception and ovaries multiple cysts at 13 years old, and an ovarian teratoma at age 25, had had several polypectomies before the endoscopies presented here.

Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth. Affected individuals have an increased risk for intestinal and other cancers.

PJS is characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine and may cause chronic rectal bleeding, anemia and bowel collapse or obstruction.

Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth and on the fingers. Hyperpigmentation may fade in adolescent or adulthood.

Affected females have an increased risk for a benign ovarian tumor called SCTAT (sex cord tumors with annular tumors) for which symptoms may include irregular or heavy periods or early puberty. Affected males can develop a tumor in the testes that secretes estrogen and can lead to breast development (gynecomastia). Individuals with PJS have an increased risk for intestinal and other cancers.

 

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Sindrome Peutz Jeghers

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Peutz Jeghers Syndrome

The primary description of PJS was published by Dutch physician Peutz in 1921 in one Dutch family in three young children. His observations in this family led to the definition of what is now known as Peutz–Jeghers syndrome(the Harrisburg family) as a gastrointestinal familial polyposis with pigmentations. Simultaneously occurring nasal polyposis was described in the original report by Peutz]. The pedigree of this original Dutch family continues to be followed. Jeghers specified the description in 10 cases from different families in his work in 1949, and defined the relations between pigmented lesions, gastrointestinal polyposis and increased risk of carcinoma; approximately half of his patients suffered from gastrointestinal malignancy.

 

 

 

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Peutz Jeghers Syndrome

Video Endoscopic Sequence 3 of 47.

Peutz Jeghers Syndrome

This photograph as well as the video clip shows oral pigmented lesions in a patient with Peutz-Jeghers syndrome.

 

For more endoscopic details download the video clips by clicking on the endoscopic images, wait to be downloaded complete then press Alt and Enter that you can see the video in full screen.

All endoscopic images shown in this Atlas contain
video clips.

 

 

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 4 of 47.

Peutz Jeghers Syndrome

Pigmentations of the lips and oral mucosa. download the video clip.

Peutz-Jeghers syndrome (PJS) belongs among the most important familial hamartomatous polyposis syndromes, and is associated with significant morbidity, variable clinical course and considerable predisposition to malignancy.

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 5 of 47.

Only tiny polyps were found in the stomach

The gastrointestinal polyps found in Peutz-Jeghers syndrome are typical hamartomas. Their histology is characterized by extensive smooth muscle arborization throughout the polyp. This may give the lesion the appearance of pseudoinvasion, because some of the epithelial cells, usually from benign glands, are surrounded by the smooth muscle (the lack of dysplasia in the polyps help to differentiate pseudoinvasion from malignancy)-

 

 

 

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 6 of 47.

Multiple polyps of the duodenum, some with pedicled

Cancer develops in the gastrointestinal tract of patients with Peutz-Jeghers syndrome with a higher frequency than it does in the general population. However, this syndrome is also associated with increased breast, gynecologic, testicular, pancreatic, and thyroid papillary malignancy. About 48% of patients with Peutz-Jeghers syndrome develop and die from cancer by age 57 years. Others may have a normal life span. The mean age at first diagnosis of cancer is 42.9 years, ±10.2 years.
During the first 3 decades of life, anemia, rectal bleeding, abdominal pain, obstruction, and/or intussusception are common complications in patients with Peutz-Jeghers syndrome. Nearly 50% of the patients experience an intussusception during their lifetime, most commonly in the small intestine.

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 7 of 47.

Retroflection image observing part of the body and antrum fundus and few tiny polyps.

 

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 8 of 47.

Close up to a tiny polyp in the antrum

Peutz Jeghers Syndrome

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Pedunculated polyp of of the Duodenum.

 

Peutz Jeghers Syndrome

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Another Pedunculated polyp of the duodenum

 

Peutz Jeghers Syndrome

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Two Polyps of the Duodenum

Peutz Jeghers Syndrome

Video Endoscopic Sequence 12 of 47.

Hamartoma in duodenum.

Large lobulated polyp with a long stalk in distal duodenum

 

 

Peutz Jeghers Syndrome

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Biopsies of the largest polyp found in the duodenum are acquired.

Peutz Jeghers Syndrome

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More polyp of the duodenum

 

Peutz Jeghers Syndrome

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Polypectomy of polyps of the colon was performed, some had already been removed in another institution.

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 16 of 47.

Cecum polyp

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 17 of 47.

Terminal ïlium

No polyp of the Ilium Terminal was observed

 

 

 

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 18 of 47

Polypectomy of Polyp of the cecum is carry out

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 19 of 47

Polypectomy of Long Pedicle Polyp

Peutz Jeghers Syndrome

Video Endoscopic Sequence 20 of 47.

One month later polypectomy of polyps of the duodenum was performed.

 

 

 

 

 






Peutz Jeghers Syndrome

Video Endoscopic Sequence 21 of 47.

A long pedicle polyp it seen which was removed with a diathermy loop see the video clips.

 


Peutz Jeghers Syndrome

Video Endoscopic Sequence 22 of 47.

The diathermy loop cutting the polyp with cautery.

 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 23 of 47.

One of the most irregular polyps of this patient is exhibited which was also removed

 


Peutz Jeghers Syndrome

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Saline solution is injected with adrenaline at 1 / 10,000

Endoscopic polypectomy is a standard method of treatment of gastrointestinal polyps, but is associated with substantial risk of complications. The most common is hemorrhage, the rate of which varied between 0.3%, and 6%.

Epinephrine injection prior to colonoscopic polypectomy is effective in preventing bleeding. this postulate is also valid for the duodenum-



Peutz Jeghers Syndrome

Video Endoscopic Sequence 25 of 47.

Polypectomy is performed

Peutz Jeghers Syndrome

Video Endoscopic Sequence 26 of 47.

The polyp is removed

Peutz Jeghers Syndrome

Video Endoscopic Sequence 27 of 47.

This is a facial photograph of a patient with Peutz-Jeghers syndrome. Note the mucocutaneous pigmentation that crosses the vermilion border.

Scattered dark brown macules appear on the lips and buccal mucosa of a child with Peutz-Jeghers syndrome. The pigmented macules on the lips may fade with time, but the intraoral pigmentation persists for life.

 

 

 

 

 

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Peutz Jeghers Syndrome

Video Endoscopic Sequence 28 of 47.

Characterized by freckle-like spots on the lips, mouth and fingers

 

 

 

 

 

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Delayed Post-Polypectomy Bleeding

Video Endoscopic Sequence 29 of 47.

Delayed Post-Polypectomy Bleeding

4 days later, bleeding from the site of one of the polypectomies with active hemorrhage manifested with continuous melena.

 


 

 

Peutz Jeghers Syndrome

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Immediately, therapeutic endoscopy is performed on one of the pedicle fragments with ablative therapy with argon plasma coagulator.

 

 

 


 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 31 of 47.

Active, bright red bleeding is displayed


 


Peutz Jeghers Syndrome

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The exact site of bleeding is is shown


 

Peutz Jeghers Syndrome

Video Endoscopic Sequence 33 of 47.

Another image of the exact site of the activing bleeding












Peutz Jeghers Syndrome

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Ablative therapy with argon plasma coagulator is is being applied.

 

 

Peutz Jeghers Syndrome

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Ablative therapy with argon plasma coagulator is being used.



Peutz Jeghers Syndrome

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Active bleeding persists and continues with the application of ablative therapy with argon plasma coagulator.

 

 

 

Peutz Jeghers Syndrome

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Final status of therapeutic endoscopy

 

 











Peutz Jeghers Syndrome

Video Endoscopic Sequence 38 of 47

Endoscopy performed one hour later.

The Bleeding has stopped at all



Peutz Jeghers Syndrome

Video Endoscopic Sequence 39 of 47.

Three fragments of the polyps of the duodenum are shown

 

 

 

 

 

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Peutz Jeghers Syndrome

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Microscopic (histologic) description
Hamartomatous mucosal polyps with characteristic central core of branching smooth muscle associated with a mucosa native to site of origin
Smaller polyps or those from the stomach and colon, may lack the prominent arborizing smooth muscle
Epithelial misplacement is not uncommon and is likely secondary to prolapse changes
Dysplasia and adenocarcinoma can develop within polyps

 

 

 

 

 

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Peutz Jeghers Syndrome

Video Endoscopic Sequence 41 of 47.

Polyp supported by broad bands of muscularis mucosa smooth muscle, thicker centrally
“Christmas tree” appearance at low power
Columnar and goblet cells superficially
Paneth and endocrine cells at base
Epithelial misplacement (pseudoinvasion) in 10%

 

 

 

 

 

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Peutz Jeghers Syndrome

Video Endoscopic Sequence 42 of 47.

Arborizing smooth muscle
Surrounds lobules of glands
Glands composed of epithelial cells of same types as normally seen at site of polyp
Generally cytologically bland epithelium
Dysplasia, if present in small intestine or stomach, is only focal
More commonly seen in colorectal polyps
Epithelial misplacement (pseudoinvasion) may be seen in small intestinal polyps (Petersen 2000)
Entrapped mucinous glands in submucosa, muscularis propria and occasionally subserosa
Cytologically bland
Entrapment of dysplastic epithelium has been reported
Lacks desmoplastic response, accompanied by normal lamina propria
No associated high grade dysplasia
Sporadic non-syndromic polyps are quite rare, if they exist at all
Strict definitions exclude some as mucosal prolapse polyps
Careful clinical examination and history of associated cancers reveal nearly all others to be syndromic
Even cases of solitary Peutz-Jeghers tyoe polyps appear to be associated with increased cancer risk.

 

 

 

 

 

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Peutz Jeghers Syndrome

Video Endoscopic Sequence 43 of 47.

The pathologic identification of a Peutz-Jeghers polyp is thus integral to the diagnosis of the syndrome, which often remains undiagnosed until these polyps are correctly identified. However, precise classification of a Peutz-Jeghers polyp can be challenging. Peutz-Jeghers polyps of the small intestine show a distinctive arborization of smooth muscle. While Peutz-Jeghers polyps of the stomach and colon also show intramucosal smooth muscle fibers, this distinctive arborization pattern is less prominent, and may be entirely absent.Furthermore, both gastric and colonic Peutz-Jeghers polyps may mimic other polyps with prolapse. In fact, in one study the accuracy of distinguishing gastric Peutz-Jeghers polyps from hyperplastic polyps and juvenile polyposis polyps was reported to be only 18%.Nevertheless, to date, the diagnosis of Peutz-Jeghers syndrome rests significantly on the pathologic recognition of a Peutz-Jeghers polyp.

 

 

 

 

 

 

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Peutz Jeghers Syndrome

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Peutz Jeghers Syndrome

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Peutz Jeghers Syndrome

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Peutz Jeghers Syndrome

Video Endoscopic Sequence 47 of 47.

 

 

 

 

 

 

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