Genetically Linked Dermatological Conditions Flashcards Preview

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Flashcards in Genetically Linked Dermatological Conditions Deck (29)
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1
Q

Neurofibromatosis is caused due to defects in which pathway?

A

Ras-GAP

2
Q

What does the Ras-GAP pathway lead to?

A

Production of transcription factors and cell growth

3
Q

How can neurofibromatosis be treated?

A

MEK inhibitors

(slows down Ras-GAP pathway)

Similar treatment for melanomas

4
Q

Cafe au lait macules are associated with which condition?

A

Neurofibromatosis

5
Q

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

A

Tuberous sclerosis

6
Q

How does tuberous sclerosis affect the bones?

A

Causes development of bone cysts

7
Q

What is a hamartoma?

A

Overgrowth of normal tissue within body organs that is benign

Also known as angiomyolipoma

8
Q

Hamartomas are associated with which condition?

A

Tuberous sclerosis

9
Q

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

A

Epidermis bullosa

10
Q

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

A

Ritter’s disease of the newborn

Pemphigus neonatorum

11
Q

Staphylococcal scaled skin syndrome does affect the mucous membranes

True or false?

A

False

It is epidermolysis conditions which affect the mucous membranes

12
Q

What are the different types of epidermolysis bullosa?

A
  1. EB Simplex (epidermal involvement)
  2. Junctional EB (DEJ involvement)
  3. Dystrophic EB (dermis involvement)
13
Q

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

A

Epidermolysis bullosa aquisita

14
Q

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

A

Autosomal recessive

15
Q

Which signs and symptoms are associated with tuberous sclerosis?

A
  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
Q

What are facial angiofibromas?

A

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

17
Q

Atopic eczema has ____ penetrance

A

Atopic eczema has low penetrance

18
Q

Which area in the skin does epidermolysis aquista affect?

A

DEJ

19
Q

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

A

Ash-leaf macule

(a depigmented lesion)

20
Q

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

A

>5

Suggest neurofibromatosis

21
Q

When do cafe-au-lait macules generally appear?

A

Within first 3 years of life

22
Q

What are Shagreen patches?

A

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

23
Q

Ichthosis vulgaris is associated with a mutation in which gene?

A

Filaggrin

24
Q

What is ichthosis vulgaris?

A

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
Q

What causes tuberous sclerosis?

A

Either of two gene mutations:

  1. TSC1
  2. TSC2
26
Q

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

A
  1. Asthma
  2. Eczema
  3. Peanut allergy

Filaggrin mutations are often associated with allergy

27
Q

Tuberous sclerosis has what level of penetrance?

A

High

28
Q

Neurofibromatosis is associated with which clinical signs?

A
  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
Q

What are Lisch nodules?

A

Iris hamartomas