Diagnostic difficulty in Peutz–Jeghers syndrome

Loureiro, Jenifer; Menegazzo, G.; Vergamini, Lucas Bonachi; Pestana, Roberto Carmagnani; Formiga, Fernanda Bellotti; Sousa, Marcella Guilherme Carolino de; Takahashi, Thais Yuka; Silveira, Felipe Martins; Candelária, Paulo de Azeredo Passos; Filho, Dino Martini; Bin, Fang Chia

doi:10.1016/j.jcol.2014.08.012

Cited by 5 publications

(6 citation statements)

References 18 publications

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“…3 It is estimated that approximately only 25% of patients with PJS have negative family history. 4 Study patient also had negative family history. In patients with PJS, polypectomy is recommended if the polyp size is more than 1cm in order to prevent the occurrence of intestinal obstruction.…”

Section: Discussionmentioning

confidence: 95%

Surveillance in Peutz-Jeghers syndrome: a case report

et al. 2017

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Study performed surveillance endoscopy in a 23-year-old male patient with Peutz-Jeghers syndrome (PJS) who underwent right hemicolectomy with ileo-colic anastamosis for ileo-colic intussusception three years back. On evaluation, he found to have multiple upper gastrointestinal and ileal polyps. Subsequently he underwent polypectomies in three sessions by combined standard snare polypectomy and endoscopic mucosal resection (EMR) method without any complication. We present a case report that emphasizes the importance of surveillance and the role of prophylactic polypectomy in patients with PJS.

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Section: Discussionmentioning

confidence: 95%

Surveillance in Peutz-Jeghers syndrome: a case report

et al. 2017

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“…The syndrome appears equally in males and females and is found in all racial groups [ 6 ]. The clinical manifestation of PJS is characterized by asymptomatic periods interspersed with complications, such as abdominal pain, intussusception often leading to intestinal obstruction, polyp extrusion through the rectum, and bleeding, which is often occult [ 7 , 10 , 11 ]. Small bowel obstruction is the presenting complaint in half of the cases, and relaparotomy due to polyp-induced complications occurs commonly and might do so at quite short intervals [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…A meta-analysis involving six studies and 210 patients showed a cumulative risk of 93% from 15 to 64 years for all types of malignancies. Thus, the relative risk of an individual with SPJ to present neoplasia in any region, compared with the general population, is up to 15 times higher [ 11 , 12 ]. The most frequent neoplasm in patients with PJS is the colonic tumor (57%), followed by breast (45%), pancreas (36%), stomach (29%), ovary (21%), small intestine (13%), and uterus (10%) tumors [ 11 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

Peutz-Jeghers syndrome in a woman presenting as intussusception: A case report

Syarifuddin

Masadah

Lusikooy

et al. 2021

International Journal of Surgery Case Reports

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“…Nevertheless, data from the literature revealed also cases where no mucocutaneous changes were noticed, as in the case of a 44-year-old male patients reported by Loureiro et al, resulting in an increased difficulty of establishing the diagnosis of PJS. [13]…”

Section: Discussionmentioning

confidence: 99%

Early onset Peutz–Jeghers syndrome, the importance of appropriate diagnosis and follow-up

Mărginean

Meliţ

Simu³

et al. 2019

Medicine

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Rationale: Peutz–Jeghers syndrome (PJS) is currently defined as an inherited condition, also called a familial hamartomatous polyposis syndrome, characterized by the association between pigmented mucocutaneous lesions and hamartomatous polyps in the gastrointestinal tract, especially in the small bowel. Patient concerns: We present the case of a 7-year-old male patients, diagnosed at the age of 3 years with PJS due to a surgical intervention for acute abdominal pain that revealed a rectal polyp associated with hyperpigmented maculae on the lips and oral mucosa. His family history revealed the same condition in his mother, who was diagnosed much later, at the age of 25 years. Diagnoses: The upper and lower digestive endoscopy revealed multiple polyps of different sizes within the stomach, and 2 polyps at 5 cm from the anal orifice. The barium enterography revealed 3 polyps within the ileum. Interventions: We administered blood transfusions and both recto-anal polyps were surgically removed. Outcomes: The outcome was favorable and the patient was discharged with the recommendations for clinical assessment at least every 6 months, annual laboratory tests, but also follow-up of the detected polyps and screening by upper digestive endoscopy, barium enterography and colonoscopy every 2 years. Lessons: Early onset of PJS presenting with polys is quite rare since they require time for their development manifesting usually after the first decade of life. Close monitoring is essential for PJS in order to prevent potential complications and early detect the development of related malignancies.

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Diagnostic difficulty in Peutz–Jeghers syndrome

Cited by 5 publications

References 18 publications

Surveillance in Peutz-Jeghers syndrome: a case report

Surveillance in Peutz-Jeghers syndrome: a case report

Peutz-Jeghers syndrome in a woman presenting as intussusception: A case report

Early onset Peutz–Jeghers syndrome, the importance of appropriate diagnosis and follow-up

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