Management of Peutz‐Jeghers Syndrome in Children and Adolescents

Abstract

Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. Development of small bowel intestinal polyps may lead to intussusception in children may require emergency laparotomy with potential loss of bowel. Gastrointestinal polyps may lead to bleeding and anemia. This European Society for Paediatric Gastroenterology Hepatology and Nutrition position paper provides a guide for diagnosis, assessment, and management of PJS in children and adolescents and guidance on avoiding complications from PJS or from the endoscopic procedures performed on these patients. This is the first position paper regarding PJS published by European Society for Paediatric Gastroenterology Hepatology and Nutrition. Literature from PubMed, Medline, and Embase was reviewed and in the absence of evidence, recommendations reflect the opinion of pediatric and adult experts involved in the care of polyposis syndromes. Because many of the studies that form the basis for the recommendations were descriptive and/or retrospective in nature, some of the recommendations are based on expert opinion. This position paper will be helpful in the appropriate management and timing of procedures in children and adolescents with PJS.

Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy

“…Small, dark brown, oval, or circular macules occur most commonly on the lips, gums, oral mucosa, and hard palate. 11 They are seen predominantly in infancy and may fade after puberty, as observed in the present case. Mucosal freckling is not pathognomonic for PJS since other conditions, including Carney complex and LEOPARD syndrome, are among the differential diagnoses.…”

“…The majority of data on cancer risk in PJS comprises small single cohort studies. 11,14 A difficult point to explain is how cancer arises in PJ polyp and the role of the PJS hamartomatous polyps in cancer development. PJS polyps are polyclonal, which is evidence against the malignant potential.…”

“…[5][6][7] PJS presents with a myriad of gastro-intestinal complications ranging from obstruction to intussusception, infarction, and bleeding, intussusception being the most frequently encountered in clinical practice. [8][9][10][11] Intussusception is the most frequent gastrointestinal complication in PJS patients and starts early in childhood. [8][9][10][11] Recurrent intestinal obstruction due to polyp size is seen in 43% of patients.…”

“…[8][9][10][11] Intussusception is the most frequent gastrointestinal complication in PJS patients and starts early in childhood. [8][9][10][11] Recurrent intestinal obstruction due to polyp size is seen in 43% of patients. 9 Individuals with PJS have an increased risk for developing cancer in the gastrointestinal tract and at other sites.…”

Cronkhite-Canada syndrome

“…Familial adenomatous polyposis2 and Peutz-Jeghers,3 the main differentials, produce adenomatous and hamartomatoid polyps, respectively, rather than hyperplastic polyps; are hereditary; and do not present with onchodystrophy or alopecia.…”