A 7-year-old boy presents to your office for the first time with his mother for a routine well-child check. You notice bluish-brown macules on his lips and buccal mucosa. You ask his mother if there is any family history of which of the following conditions?

 A: Tuberous sclerosis

 B: Peutz-Jeghers syndrome

 C: Neurofibromatosis

 D: Familial adenomatous polyposis syndrome

 E: Juvenile polyposis syndrome

The correct answer is B. 

Explanation:
Peutz-Jeghers syndrome is associated with hamartomas of the small bowel, stomach, and colon. Another characteristic finding is blue-brown macules on the vermillion border of the lips and buccal mucosa. Tuberous sclerosis is associated with hypomelanotic macules of the skin, facial angiofibromas, shagreen patches, and fibrous facial plaques. Neurofibromatosis is associated with café-au-lait spots and freckling of the axilla and inguinal area. There are no unique skin findings for familial adenomatous polyposis syndrome or juvenile polyposis syndrome.

Question from Rudolph's Pediatrics, 23e, Self-Assessment and Board Review.

For additional information go to Rudolph's Pediatrics, 23rd Edition, Section 21: Disorders of the Gastrointestinal System, Chapter 409: Polyps and Tumors of the Gastrointestinal Tract, Hereditary Hamartomatous Polyposis Syndromes