2019
DOI: 10.1097/md.0000000000016381
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Early onset Peutz–Jeghers syndrome, the importance of appropriate diagnosis and follow-up

Abstract: 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 tha… Show more

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Cited by 8 publications
(10 citation statements)
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“…PJS prognosis is diverse depending on the diagnosis age, clinical symptoms, severe complications, surgical necessity, and malignancy risk. Consequently, mortality is increased, with a life expectancy of less than 65 years [ 14 , 15 ].…”
Section: Discussion/conclusionmentioning
confidence: 99%
“…PJS prognosis is diverse depending on the diagnosis age, clinical symptoms, severe complications, surgical necessity, and malignancy risk. Consequently, mortality is increased, with a life expectancy of less than 65 years [ 14 , 15 ].…”
Section: Discussion/conclusionmentioning
confidence: 99%
“…The clue at first endoscopic evaluation is the number of polyps; multiple polyps generally have a genetic background and require further dermatological and endocrine workup if PJS is suspected (78). A polyp takes time to grow, thus its detection is less likely to occur during the first decade of life (83).…”
Section: Gastro-intestinal Polypsmentioning
confidence: 99%
“…In fact, Peutz-Jeghers syndrome is a rare autosomal dominant disorder, often undiagnosed for years or accidentally diagnosed by occurrence of acute symptoms such as bleeding, bowel obstruction and intussusception, just because it is characterized by gastrointestinal hamartomatous polyps and hyperpigmentation on the lips, check and often of the entire oral mucosa ( Figure 16 a,b) [ 159 , 160 , 161 ].…”
Section: Genetic Diseases and Head And Neck Syndrome (Miscellanea)mentioning
confidence: 99%