Peutz-Jeghers syndrome in a 14-year-old boy: case report and review of the literature

Int J Paediatr Dent. 2005 May;15(3):224-8. doi: 10.1111/j.1365-263X.2005.00627.x.

Abstract

Peutz-Jeghers syndrome (PSJ) is a relatively rare but well-recognized condition, with a prevalence of approximately one in 120,000 births in the USA. It is generally inherited as an autosomal dominant trait, although 35% of cases are new mutations. This disorder is characterized by melanocytic macules on the hands, feet, peri-oral skin and oral mucosa, and multiple gastrointestinal hamartomatous polyps. People with PSJ have an increased risk for developing a variety of malignant tumours. The aim of the present study was to report one case of PSJ in a 14-year-old boy with mucocutaneous pigmentation associated with duodenal hamartomatous polyps.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Humans
  • Intestinal Polyps / etiology
  • Intestinal Polyps / pathology
  • Lip / pathology
  • Male
  • Mouth Diseases / etiology*
  • Mouth Diseases / pathology
  • Mouth Mucosa / pathology*
  • Peutz-Jeghers Syndrome / complications*