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Y2 Dermatology > Autoimmune skin conditions > Flashcards

Autoimmune skin conditions Flashcards

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Dermatology Board Prep flashcards
1
Q

What is tuberous sclerosis?

A

Autosomal dominant disorder that affects multiple systems - characterised by cellular hyperplasia, tissue dysplasia and hamartomas (benign malformation that looks like a tumour)

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2
Q

What is the most common genodermatoses (inherited skin condition)?

A

Neurofibromatosis Type 1

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3
Q

What is the 2nd most common genodermatoses?

A

Tuberous sclerosis

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4
Q

Which genes are affected in tuberous sclerosis?

A

TSC1 gene and TSC2 gene

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5
Q

How does tuberous sclerosis present?

A

Ash leaf macules - depigmented macules
periungual fibromas - tumours around the nails
facial angiofibromas - fibrous tissue in blood vessels in the face
Hamartomas in heart, lung, kidneys etc
Bone cysts

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6
Q

Investigations for tuberous sclerosis?

A

Genetic testing for mutation of TSC1 and 2 genes

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7
Q

What is pemphigus vulgaris?

A

autoimmune blistering condition causing intra-epidermal blisters -IgG autoantibodies against desmosomes cause cells in the epidermis to not stick together very well

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8
Q

Which age of patients are more likely to be affected by pemphigus vulgaris?

A

Middle aged

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9
Q

How does pemphigus vulgaris typically present?

A

Multiple painful FRAGILE blisters
Affects mucous membranes
Erosions due to blisters being so fragile

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10
Q

What is the best investigation for pemphigus vulgaris and what would it show?

A

Immunofluorescence - IgG deposition within the epidermis

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11
Q

Management of pemphigus vulgaris?

A

High dose corticosteroids

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12
Q

What is the difference between pemphigus vulgaris and bullous pemphigoid?

A

Pemphigus vulgaris = middle aged people with intra-epidermal blisters (more superficial)
Bullous pemphigoid = elderly people with sub epidermal blisters (deeper)

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13
Q

What is bullous pemphigoid?

A

Autoimmune blistering condition causing sub-epidermal blisters - IgG autoantibodies act against hemidesmosomes in the demoepidermal junction which causes it to break away

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14
Q

Which age of patients are more likely to be affected by bullous pemphigoid?

A

Elderly people

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15
Q

How does bullous pemphigoid typically present?

A

Tense blisters on inflamed skin

Blisters can be itchy

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16
Q

What is the best investigation for bullous pemphigoid and what would it show?

A

Immunofluorescence - IgG and complement deposition on the basement membrane

17
Q

Management for bullous pemphigoid?

A

local disease = topical steroids

systemic disease = oral corticosteroids +/- tetracycline

18
Q

What is dermatitis herpetiformis?

A

Autoimmune blistering disorder strongly associated with gluten intolerance

19
Q

Explain the pathophysiology of dermatitis herpetiformis?

A

Blisters form due to autoantibodies against TTG (same antibody in coeliac disease)

20
Q

What is the relationship between coealic disease and dermatitis herpetiformis?

A

Only a few coeliacs will get DH but everyone who gets DH is a coeliac

21
Q

How does dermatitis herpetiformis typically present?

A

Lots of small, intensely itchy blisters on extensor surfaces:

  • elbows
  • forearms
  • knees
  • buttocks
  • face and scalp
22
Q

What would be seen in blood tests, immunofluorescence and biopsy in dermatitis herpetiformis?

A

Bloods: Anti-TTG
Immunofluorescence: IgA deposits within papillae of epidermis
Biopsy: sub-epidermal blisters with papillary micro abscesses

23
Q

Management of dermatitis herpetiformis?

A

Gluten free diet +/- dapsone

24
Q

What is erythema nodosum?

A

Painful erythematous nodules on shins due to systemic disease (IBD, TB, sarcoidosis)

25
Q

How does erythema nodosum typically present?

A

Painful erythematous nodules on shins

+/- systemic upset and joint pain

26
Q

Management of erythema nodosum?

A

treat underlying cause + supportive treatment

27
Q

What would present with patchy hair loss with exclamation hair marks?

A

Alopecia areata

Y2 Dermatology (11 decks)

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