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Dermatology > Genetics > Flashcards

Genetics Flashcards

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Dermatology Board Prep flashcards
1
Q

What is the function of precision medicine?

A

To identify multiple small subgroups who will respond to their own specific treatments

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2
Q

What condition can present as Periungual fibromatas and longitudinal ridging of the nails?

A

Tuberous sclerosis

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3
Q

What other clinical features point towards a diagnosis of Tuberous sclerosis

A

infantile seizures
cutaneous sign = ash-leaf macule
Shagreen patches
Enamel pitting in teeth

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4
Q

What tumours can Tuberous sclerosis cause?

A

Facial angiofibromas
Cortical tubers (causes the seizures)
Hamartomas
Bone cysts

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5
Q

Is Tuberous Sclerosis an autosomal dominant or recessive disorder?

A

autosomal dominant

Lots occur as de Novo mutations - aka first person in the family to have it

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6
Q

What do the TSC1 and TSC2 genes encode for?

A

tuberin (chromosome 9) and hamartin (chromosome 16)

Tumour regulating genes – in the same pathway

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7
Q

Why is it always important to check family history in conditions such as Tuberous Sclerosis?

A

Sometimes family members are unaware they have the condition as they do not display all symptoms

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8
Q

How many new mutations does the average child have, that their parents don’t?

A

around 120

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9
Q

What can affect the number of new mutations a child has?

A

The age of the father

Due to spermatozoa going through more cell division, => more opportunities for mutations to occur at meiosis

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10
Q

What specific treatment is used in Tuberous sclerosis?

A

mTOR inhibitors

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11
Q

What genetic disorder presents with blistering and ulceration of the newborn? (not due to delivery trauma)

A

Epidermolysis Bullosa (EB)

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12
Q

In Epidermolysis Bullosa, does blistering at birth determine prognosis?

A

No, the disease can vary in severity

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13
Q

What are the three main types of Epidermolysis Bullosa?

A

EB Simplex
Junctional
Dystrophic

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14
Q

Is Epidermolysis Bullosa autosomal dominant or recessive?

A

Can be dominant, recessive, a new mutation or acquired in the environment

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15
Q

What layer of the skin is affected in EB Simplex?

A

The epidermis is split and keratinocytes fall apart

=> leads to blistering at surface of dermis

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16
Q

What layer of the skin is affected in Junctional EB?

A

The dermo-epidermal junction

17
Q

What layer of the skin is affected in Dystrophic EB?

A

The dermis

this is then complicated by scarring

18
Q

Describe the difference in scarring between the epidermis and dermis

A

If the EPIDERMIS ONLY is traumatised, there will be no scarring when it heals

If the dermis (or anything from the dermo-epidermal junction downwards) is damaged, this will SCAR on healing.

19
Q

Describe the normal pathway of keratin filament assembly

A

Type 1 and 2 Keratin form a dimer -> Tetramer -> filament

20
Q

Describe the term HAPLOINSUFFICIENCY

A

During autosomal dominant disorders, the correct protein can still be produced, just not ENOUGH

21
Q

What genetic term is used to describe the situation where an autosomal dominant disorder produces the wrong shape of protein, causing the normal protein to stop working?

A

Dominant Negative

22
Q

What genetic term describes a patient who has two faulty copies of a gene, causing a complete loss of the desired protein?

A

Autosomal Recessive

23
Q

Describe the appearance of Café-au-lait macules

A

asymptomatic coffee coloured flat marks

24
Q

How many café-au-lait macules indicate genetic disease?

A

> 5 macules

25
Q

What genetic disease is characterised by café-au-lait macules

A

Neurofibromatosis (Type 1)

26
Q

Apart from café-au-lait macules, what other clinical feature can distinguish neurofibromatosis?

A 
Neurofibromas (soft neural tumours)
Axillary or inguinal freckling
Optic glioma
2 or more Lisch nodules (brown marks on iris)
A distinctive bony lesion
27
Q

What targeted treatment is offerered to those suffering from Neurofibromatosis type 1?

A

MEK inhibitors

28
Q

What genetic factors influence atopic eczema?

A

Filaggrin function mutation (1 in 10)

=> resulting in ichthyosis vulgaris

29
Q

What is the function of filaggrin in atopic disease?

A

Acts as a skin barrier

30
Q

By how much does a filaggrin mutation increase the risk of atopic disease?

A

Increases risk of eczema 4X
Increases risk of asthma and hay fever ≈3X
Increases risk of peanut allergy 5X

Dermatology (18 decks)

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