Sunday, May 7, 2017

Picture Diagnosis

Q: 22 year old male is admitted to ICU with severe abdominal pain and anemia. While in ICU, patient was diagnosed with intestinal obstruction due to intussusception. Patient's family history is undetermined. Looking at his lips, what is the most probable diagnosis?

Answer: Peutz-Jeghers syndrome (PJS)

 PJS has a specific characteristic muco-cutaneous ppigmenation. Black to brown spots with less than 1 mm size presented mostly on lower lips and perioral area. Diagnosis can be confirmed with genetic testing.


Akimaru K, Katoh S, Ishiguro S, Miyake K, Shimanuki K, Tajiri T. Resection of over 290 polyps during emergency surgery for four intussusceptions with Peutz-Jeghers syndrome: Report of a case. Surg Today 2006;36(11):997-1002

No comments:

Post a Comment