Dermatological Disorders Flashcards
1
Q
Ichytosis
A
X-linked and AR?
Dry skin, teeth anomalies
2
Q
Neurofibromatosis
A
Two types/genes: NF1 and NF2; AD
Very common: 1/3500, half de novo
Neurofibromas, CALMs, Lisch nodules, ID, optic glioma, axillary freckling
Good example of variable expressivity and segmental mosaicisim
3
Q
xeroderma pigmentosum
A
AR
defect in DNA repair
4
Q
polycystic kidney disease
A
AD
1/1000 of US adults
5
Q
familial hypercholesterolemia
A
AD
6
Q
myotonic dystrophy
A
AD
7
Q
male-limited precocious puberty
A
ACGR; AD but sex-limited
8
Q
split-hand deformity
A
good example of reduced penetrance; penetrance is only 70%
9
Q
thanatophoric dwarfism
A
AD
Lethal; therefore mutation must be de novo
10
Q
Alzheimer disease
A
AD
