Peutz–Jeghers syndrome

Also known as: Hereditary intestinal polyposis syndrome

Mucocutaneous pigmentation with hamartomatous gastrointestinal polyps.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, pigmentation in infancy
Gene(s) involved: MUTYH, STK11

Etiology & mechanism

Loss of STK11/LKB1 tumor suppressor function.

Gene(s) involved (2)

MUTYHSTK11

Symptoms & signs (7)

abdominal painanemiacancer riskhamartomatous polypsintussusceptionmucocutaneous maculesrectal bleeding

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.