Genetics

Question 1

What is one of the most common genetic skin diseases?

Answer 1

• Tuberous sclerosis

Question 2

How might tuberous sclerosis present in childhood?

Answer 2

• Infantile seziures

- Learning difficulties

Question 3

What are the cutaneous presentations of tuberous sclerosis?

Answer 3

• Ash-leaf macule
• Periungual fibroma
• longitudinal ridges
• facial angiofibroma

Question 4

What genes are involved in tuberous sclerosis?

Answer 4

• TSC1

- TSC2

Question 5

TS (Tuberous sclerosis) is an autosomal______ condition

Answer 5

• autosomal dominant

Question 6

In an autosomal dominant condition, what is the likelihood a child is affected if a parent is affected?

Answer 6

• 50%

Question 7

In an autosomal recessive condition, what is the likelihood a child is affected if a parent is a carrier?

Answer 7

• 25%

Question 8

What treatment can be given in tuberous sclerosis?

Answer 8

• mTOR inhibitor (rapamycin)

Question 9

What are the three types of epidermolysis bullosa (EB)

Answer 9

• Simplex
• Junctional
• Dystrophic

Question 10

Where does EBD affect?

Answer 10

• lamina densa

dystrophic

Question 11

Where does EBS affect?

Answer 11

• Epidermis

simplex

Question 12

What protein is involved in neurofibromatosis?

Answer 12

• Neurofibromine

- NF1

Question 13

What is the presentation of neurofibromatosis?

Answer 13

• Cafe au lait macules

- neurofibromas

Question 14

What mutation is associated with atopic eczema?

Answer 14

• Flaggrin mutation

Question 15

Define haploinsufficiency

Answer 15

• only 1 copy of working gene

- reduced protein production

Question 16

Define dominant negative

Answer 16

• expression of abnormal protein interferes with normal protein

Question 17

Define gain of function in terms of genetics?

Answer 17

• mutation of a protein gains a new function

Question 18

Complete loss of protein is______

Answer 18

• autosomal recessive