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Early onset Peutz-Jeghers syndrome, the importance of appropriate diagnosis and follow-up: A case report.

Medicine (Baltimore) 2019 Jul;98(27):e16381

Department of Pediatrics III, University of Medicine, Pharmacy, Sciences and Technology, Târgu Mureş, Romania.

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. Read More

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