ABSTRACT
The Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by the presence of hamartomatous polyps and characteristic mucocutaneous pigmentations. It is a rare syndrome and its associated to high risk for both gastrointestinal and non-gastrointestinal malignancies. The case of a patient, 32 years old, with symptoms of abdominal pain and rectal bleeding is reported. The upper gastric endoscopy and colonoscopy showed hamartomatous polyps and a tumor in the colon. Reported as a tubular polyp with severe dysplasia, the patient underwent surgical treatment. The final anatomopathologic diagnosis was colon adenocarcinoma.
Subject(s)
Adenocarcinoma/complications , Colonic Neoplasms/complications , Hamartoma/complications , Peutz-Jeghers Syndrome/complications , Adenocarcinoma/pathology , Adenocarcinoma/surgery , Adult , Colectomy/methods , Colonic Neoplasms/pathology , Colonic Neoplasms/surgery , Colonoscopy , Female , Hamartoma/pathology , Hamartoma/surgery , Humans , Peutz-Jeghers Syndrome/pathology , Treatment OutcomeABSTRACT
El síndrome de Peutz-Jeghers es un desorden autosómico dominante, caracterizado por la presencia de pólipos hamartomatosos intestinales y pigmentaciones mucocutáneas características. Es un síndrome raro y se halla asociado a un alto riesgo de malignidad gastrointestinal y no gastrointestinal. Presentamos el caso de una paciente de 32 años con historia de dolor abdominal y sangrado rectal. La endoscopia digestiva alta y colonoscopia revelaron pólipos hamartomatosos y una tumoración en el colon, informada como pólipo tubular con displasia severa, por lo que fue indicado el tratamiento quirúrgico. El diagnóstico anátomo-patológico final fue un adenocarcinoma de colon.
The Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by the presence of hamartomatous polyps and characteristic mucocutaneous pigmentations. It is a rare syndromeand its associated to high risk for both gastrointestinal and non-gastrointestinal malignancies. The case of a patient, 32 years old, with symptoms of abdominal pain and rectal bleeding is reported.The upper gastric endoscopy and colonoscopy showed hamartomatous polyps and a tumor in the colon. Reported as a tubular polyp with severe dysplasia, the patient underwent surgical treatment. The final anatomopathologic diagnosis was colon adenocarcinoma.
