Derm - Genetic Conditions + Miscellaneous

Question 1

inheritance for NF1?

Answer 1

autosomal dominant

Question 2

cutaneous features of NF1?

Answer 2

cafe au lait macules

axillary/inguinal freckling

Question 3

non cutaneous features of NF1?

Answer 3

phaeochromocytoma
neurofibroma
lisch nodules
brain tumours

Question 4

inheritance for TS?

Answer 4

autosomal dominant

Question 5

cutaneous features of TS?

Answer 5

ash leaf macule
cafe au lait
shagreen patch

Question 6

non cutaneous features of TS?

Answer 6

seizures
angiomyolipomas
bone cysts
enamel pitting

Question 7

Tx for anaphylaxis?

Answer 7

1:1000 IM
IV antihistamine
200mg hydrocortisone
fluids

Question 8

what happens in TEN?

Answer 8

necrosis causing mucosal detachment of at least 30% of the skin surface

Question 9

features of SJS?

Answer 9

erosion of mucosa

target lesions

Question 10

what drugs cause SJS?

Answer 10

lamotrigine
carbemazepine
allopurinol

Question 11

what are the features of NF2?

Answer 11

vestibular schwannomas (bilateral)
meningiomas
pigmentary retinopathy
cutaneous schwannomas

Question 12

features of an acoustic neuroma?

Answer 12

hearing loss
dizzy
headache
tinnitus
loss of red reflex

Question 13

Ix for vestibular schwannoma?

Answer 13

MRI with gadolinum enhancement

audiometry (sensorineural hearing loss)