Peutz-Jeghers syndrome Flashcards
1
Q
Peutz-Jeghers syndrome, hereditary pattern
A
Autosomal dominant
2
Q
Peutz-Jeghers syndrome, morphologic characteristics
A
Large, multiple, pedunculated and with lobulated contorn hamartomatous polyps
Arborization of connective tissue, smooth muscle glands, etc
Mucocutaneus hyperpigmentation
3
Q
Peutz-Jeghers syndrome, sites of mucocutaneus hyperpigmentation
A
Lips
Bucal mucosa
Perianal region
Palmar region of hands
4
Q
Peutz-Jeghers syndrome, malignancy risk
A
High
5
Q
Peutz-Jeghers syndrome, genes and pathways involved. How many individuals posses the gene mutation
A
STK11
AMPK related pathway
50% of people with Peutz-Jeghers syndrome
6
Q
Peutz-Jeghers syndrome, common location
A
Small intestine
7
Q
Peutz-Jeghers syndrome, mid-age
A
11
