MEDizzy
MEDizzy
USMLE
Appendix
A 28-year-old man presents to the emergency room with the complaint of recurrent, colicky, midabdominal pain. Physical examination reveals a palpable abdominal mass and several areas of increased pigmentation on his lips, palms, and soles. He states that his mother had a polyp removed from her colon several years ago. Which of the following is the most likely diagnosis?
Explanation
ExplanationC. Peutz-Jeghers syndrome is an autosomal dominant familial disease characterized by mucocutaneous pigmentation and intestinal polyposis. The polyps are hamartomas that are most frequently located in the jejunum and ileum but can also be found in the stomach, duodenum, colon, and rectum. It is generally believed that their malignant potential is very low. Peutz-Jeghers syndrome can produce abdominal symptoms caused by intussusception or hemorrhage; as many as one third of patients present with abdominal pain and a palpable abdominal mass as a result of the intussusception. An operation is indicated for abdominal pain or bleeding; it should be limited to conservative resection of involved bowel rather than be an attempt to resect all polyps detected during exploration. While familial polyposis, Gardner's syndrome, and Crohn's disease can cause obstruction, the physical findings of mucocutaneous pigmentation make Peutz-Jeghers syndrome the most likely diagnosis. Human immunodeficiency virus (HIV) enteropathy characteristically presents with malabsorption and diarrhea rather than intussusception.
USMLE
More questions