Physical Exam Findings Flashcards
1
Q
What syndrome?
A
Peutz-Jeghers (STK11)
mucocutaneous hyperpigmented macules, GI polyposis (hamartomatous polyps of GI tract), increased risk of colon and other types of cancer
Pigmentary abnormalities not usually present at birth, develop by age 5 yrs, and fade in adolescence/adulthood
Often on lips/buccal surface but can also be seen on palms, soles
2
Q
What syndrome?
A
Bloom syndrome (butterfly distribution of sun-sensitive telangiectasia)
3
Q
What syndrome?
A
Ataxia-telangiectasia (conjunctival telangiectasia usually present by age 6 yrs)
4
Q
A