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Flashcards in Genetically Linked Dermatological Conditions Deck (29)
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1

Neurofibromatosis is caused due to defects in which pathway?

Ras-GAP

2

What does the Ras-GAP pathway lead to?

Production of transcription factors and cell growth

3

How can neurofibromatosis be treated?

MEK inhibitors

(slows down Ras-GAP pathway)

Similar treatment for melanomas

4

Cafe au lait macules are associated with which condition?

Neurofibromatosis

5

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

Tuberous sclerosis

6

How does tuberous sclerosis affect the bones?

Causes development of bone cysts

7

What is a hamartoma?

Overgrowth of normal tissue within body organs that is benign

Also known as angiomyolipoma

8

Hamartomas are associated with which condition?

Tuberous sclerosis

9

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

Epidermis bullosa

10

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

Ritter's disease of the newborn

Pemphigus neonatorum

11

Staphylococcal scaled skin syndrome does affect the mucous membranes

True or false?

False

It is epidermolysis conditions which affect the mucous membranes

12

What are the different types of epidermolysis bullosa?

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

13

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

Epidermolysis bullosa aquisita

14

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

Autosomal recessive

15

Which signs and symptoms are associated with tuberous sclerosis?

  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

16

What are facial angiofibromas?

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

17

Atopic eczema has ____ penetrance

Atopic eczema has low penetrance

18

Which area in the skin does epidermolysis aquista affect?

DEJ

19

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

Ash-leaf macule

(a depigmented lesion)

20

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

>5

Suggest neurofibromatosis

21

When do cafe-au-lait macules generally appear?

Within first 3 years of life

22

What are Shagreen patches?

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

23

Ichthosis vulgaris is associated with a mutation in which gene?

Filaggrin

24

What is ichthosis vulgaris?

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

25

What causes tuberous sclerosis?

Either of two gene mutations:

  1. TSC1
  2. TSC2

26

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

  1. Asthma
  2. Eczema
  3. Peanut allergy

Filaggrin mutations are often associated with allergy

27

Tuberous sclerosis has what level of penetrance?

High

28

Neurofibromatosis is associated with which clinical signs?

  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

29

What are Lisch nodules?

Iris hamartomas