Conditions / Other

Peutz-Jeghers syndrome

info · Other · ICD-10: Q85.89

An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threoni

An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.

Signs and symptoms

  • Hypermelanotic macule
  • Intestinal bleeding
  • Labial melanotic macule
  • Bloody diarrhea
  • Intussusception
  • Multiple gastric polyps
  • Hamartomatous polyposis
  • Oral melanotic macule
  • Abdominal pain
  • Iron deficiency anemia

Also known as: Colonic hamartomatous polyp; Peutz Jeghers colon polyp; Peutz Jeghers polyp; Peutz-Jeghers polyp of small Intestine; gastric Peutz-Jeghers polyp