Genetically Linked Dermatological Conditions

Question 1

Neurofibromatosis is caused due to defects in which pathway?

Answer 1

Ras-GAP

Question 2

What does the Ras-GAP pathway lead to?

Answer 2

Production of transcription factors and cell growth

Question 3

How can neurofibromatosis be treated?

Answer 3

MEK inhibitors

(slows down Ras-GAP pathway)

Similar treatment for melanomas

Question 4

Cafe au lait macules are associated with which condition?

Answer 4

Neurofibromatosis

Question 5

Infantile seizures are associated with which genetic condition that also has skin manifestations?

Answer 5

Tuberous sclerosis

Question 6

How does tuberous sclerosis affect the bones?

Answer 6

Causes development of bone cysts

Question 7

What is a hamartoma?

Answer 7

Overgrowth of normal tissue within body organs that is benign

Also known as angiomyolipoma

Question 8

Hamartomas are associated with which condition?

Answer 8

Tuberous sclerosis

Question 9

What is the name given to the key group of inherited blistering skin disorders?

Answer 9

Epidermis bullosa

Question 10

By which terms can staphylococcal scaled skin syndrome be referred to in infants?

Answer 10

Ritter’s disease of the newborn

Pemphigus neonatorum

Question 11

Staphylococcal scaled skin syndrome does affect the mucous membranes

True or false?

Answer 11

False

It is epidermolysis conditions which affect the mucous membranes

Question 12

What are the different types of epidermolysis bullosa?

Answer 12

1. EB Simplex (epidermal involvement)
2. Junctional EB (DEJ involvement)
3. Dystrophic EB (dermis involvement)

Question 13

What is the term given to a type of epidermolysis bullosa that is autoimmune?

Answer 13

Epidermolysis bullosa aquisita

Question 14

In terms of producing protein, which mutation type will result in no protein production?

Answer 14

Autosomal recessive

Question 15

Which signs and symptoms are associated with tuberous sclerosis?

Answer 15

1. Infantile seizures
2. Facial angiofibromas
3. Periungual fibromas
4. Longitudinal rail ridging
5. Ash-leaf macule
6. Shagreen patches
7. Enamel pitting
8. Learning difficulties and slow development

Question 16

What are facial angiofibromas?

Answer 16

Small pink/red macules districutes in a butterfly pattern across the face

Question 17

Atopic eczema has ____ penetrance

Answer 17

Atopic eczema has low penetrance

Question 18

Which area in the skin does epidermolysis aquista affect?

Answer 18

DEJ

Question 19

Which clinical sign is generally the first clinical sign to develop for tuberous sclerosis?

Answer 19

Ash-leaf macule

(a depigmented lesion)

Question 20

How mnay cafe-au-lait macules are required to suggest a genetic disease?

Answer 20

>5

Suggest neurofibromatosis

Question 21

When do cafe-au-lait macules generally appear?

Answer 21

Within first 3 years of life

Question 22

What are Shagreen patches?

Answer 22

Flesh coloured orange-peel connective tissue naevi of varying sizes, usually on the lower back

Question 23

Ichthosis vulgaris is associated with a mutation in which gene?

Answer 23

Filaggrin

Question 24

What is ichthosis vulgaris?

Answer 24

The skin loses its ability to shed normally so dry dead skin patches accumulate on the skin surface giving the appearance of fish scales

Question 25

What causes tuberous sclerosis?

Answer 25

Either of two gene mutations:

1. TSC1
2. TSC2

Question 26

Mutations in the filaggrin gene can be associated with which conditions?

Answer 26

1. Asthma
2. Eczema
3. Peanut allergy

Filaggrin mutations are often associated with allergy

Question 27

Tuberous sclerosis has what level of penetrance?

Answer 27

High

Question 28

Neurofibromatosis is associated with which clinical signs?

Answer 28

1. Cafe-au-lait macules
2. Neurofibromas
3. Plexiform neuroma (diffuse)
4. Axillary or inguinal freckling
5. Optic glioma
6. 2 or more Lisch nodules
7. Distinctive bony lesion

Question 29

What are Lisch nodules?

Answer 29

Iris hamartomas