Genetics - Dermatology

Question 1

list the clinical features of tuberous sclerosis

Answer 1

epilepsy
periungual fibromata
longitudinal ridging
ash leaf macule

Question 2

true or false: tuberous sclerosis is autosomal recessive

Answer 2

false

it is autosomal dominant

Question 3

what is meant by non penetrance?

Answer 3

having the mutation but not having the features of the disease

Question 4

in autosomal dominance, what is the percentage risk of the child being affected if a parent is affected?

Answer 4

50%

Question 5

which genes become mutated causing tuberous sclerosis?

Answer 5

TSC 1
TSC 2

(one or the other)

Question 6

which inhibitors partially correct tuberous sclerosis?

Answer 6

mTOR inhibitors

Question 7

true or false: tuberous sclerosis is a common disorder

Answer 7

false

Question 8

what is epidermolysis bullosa?

Answer 8

a group of genetic skin fragility conditions involving blistering and erosion

Question 9

what does simplex EB affect?

Answer 9

the epidermis

Question 10

what does junctional EB affect?

Answer 10

the DEJ

Question 11

what does dystrophic EB affect?

Answer 11

the dermis

Question 12

what is meant by haploinsufficiency disease?

Answer 12

one gene can’t produce the protein, so you end up with less protein overall

Question 13

what is the most common genetic dermatological condition?

Answer 13

neurofibromatosis type 1

Question 14

what is the inheritance pattern for neurofibromatosis type 1?

Answer 14

autosomal dominance

Question 15

how does a mutated NF1 gene cause neurofibromatosis?

Answer 15

NF1 is responsible for switching off the cell cycle

mutated NF1 promotes excessive cell proliferation

Question 16

list clinical features of neurofibromatosis

Answer 16

cafe au lait macules
neurofibromas
axillary/inguinal freckles
lisch nodules