Peutz-Jeghers syndrome and achalasia: case report and literature review

Abstract

Peutz-Jeghers syndrome (PJS) is a dominant autosomal rare disease, characterized by gastrointestinal hamartomatous polyps and mucocutaneous hyperchromic macules. The present study reports a case of a patient with hyperchromic macules in the labial, palmar and plantar regions, as well as gastrointestinal hamartomatous polyps, being diagnosed with PJS, and evolving with episodes of intense abdominal pain, two episodes of intussusception and the appearance of achalasia. In addition to the unpublished association in the literature, as far as is known, of PJS and achalasia, the following work brings a review of the literature on the disease, as well as recommendation in the cancer screening in such patiens, since they are at higher risk of developing malignant neoplasms.