Genetics

Question 1

Most common genodermatoses / skin disease?

Answer 1

Tuberous sclerosis

Question 2

Tuberous sclerosis typically presents in infancy with….

Answer 2

Infantile seizures (due to cortical tubers)

Question 3

Tuberous sclerosis is inherited in which pattern?

Answer 3

Autosomal dominant

Question 4

Ash leaf macules is buzzword for…

Answer 4

Tuberous sclerosis

Question 5

Enamel pitting and shagreen patches buzzwords for….

Answer 5

Tuberous sclerosis

Question 6

Tuberous sclerosis involves one gene. True/false?

Answer 6

False - involves TSC1 and TSC2

Question 7

The affected proteins in tuberous sclerosis are (2)

Answer 7

-Tuberin -Hamartin

Question 8

If a parent is affected with tuberous sclerosis, what is the child’s risk?

Answer 8

50% (autosomal dominant)

Question 9

Tuberous sclerosis is a Mendelian disorder. True/false?

Answer 9

True

Question 10

Signs of epidermolysis bullosa include

Answer 10

-Extreme skin blistering / fragility with handling

Question 11

Epidermolysis bullosa has a single mode of inheritance. True/false?

Answer 11

False - can be dominant, recessive or acquired

Question 12

What is the clinically severest form of epidermolysis bullosa?

Answer 12

Dystrophic

Question 13

How many genes are implicated in epidermolysis bullosa?

Answer 13

>10

Question 14

If both parents carry one gene for an autosomal recessive condition and have a child, what is the risk the child will develop that condition?

Answer 14

1:4

Question 15

Asymptomatic coffee flat marks / Cafe-au-lait macules is buzzword for…

Answer 15

Neurofibromatosis type 1

Question 16

Neurofibromatosis type 1 responds to MEK inhibitors (e.g. selumetinib, tramentinib). True/false?

Answer 16

True

Question 17

Filaggrin is named why?

Answer 17

FILament AGGregating proteIN

Question 18

Mutation of filaggrin is assoicated with what type of allergy?

Answer 18

Peanut allergy (5x more likely)

Question 19

Spot diagnosis

Answer 19

Tuberous sclerosis

Question 20

What are these signs?

Answer 20

Periungual fibroma, longitudinal ridging

Question 21

Spot diagnosis

Answer 21

Tuberous sclerosis (Depigmented lesion / Ash-Leaf macule)

Question 22

Spot diagnosis

Answer 22

Tuberous sclerosis (Shagreen Patches)

Question 23

Spot diagnosis

Answer 23

Epidermolysis Bullosa (junctional)

Question 24

Spot diagnosis

Answer 24

NFT-1 (cafe-au-lait)