Section 6- Genetic and Bullous Diseases Flashcards

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1
Q

3 types of hereditary epidermolysis bullosa

A

Epidermolytic (EB simplex)
Junctional
Dermolytic

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2
Q

In Epidermolytic EB, cleavage and blister formation occurs in

A

Keratinocytes

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3
Q

In Junctional EB, cleavage and blister formation occurs in

A

Basal lamina

Lamina lucida of basement membrane

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4
Q

In Dermolytic EB, cleavage and blister formation occurs in

A

Most superficial papillary dermis

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5
Q

EB simplex gene mutations

A

Keratin 5 and 14

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6
Q

So called Koebner variant of EB simplex

Onset at birth to early infancy

Generalized blistering following trauma

Blisters tense or flaccid leading to erosions

A

Generalized EB simplex

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7
Q

Most common form of EB simplex

A

Localized

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8
Q

Gene mutations for junctional epidermolysis bullosa

A

Collagen XVII

Laminin

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9
Q

Blistering occurs below basal lamina

Healing accompanied by scarring and milia formation

A

Dystrophic EB

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10
Q

Gene mutation in dystrophic EB

A

Anchoring fibril VII collagen

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11
Q

Management for EB

A

Wound management
Nutritional support
Infection control

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12
Q

Flaccid blisters on skin and erosions on mucous membranes
No pruritus but burning and pain
Arising on NORMAL SKIN

Suprabasal acantholysis

More common in Jewish and Mediterranean
Usually starts in the oral mucosa

A

Pemphigus vulgaris

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13
Q

Term for loss of cell to cell adhesion in the epidermis

A

Acantholysis

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14
Q

Type of pemphigus:
Scaly and crusted lesions
Subcorneal acantholysis
Endemic in rural areas of Brazil

A

Pemphigus foliaceus

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15
Q

Transmembrane glycoprotein involved in pemphigus vulgaris

A

Desmoglein 3

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16
Q

Transmembrane glycoprotein involved in pemphigus foliaceus

A

Desmoglein 1

17
Q

Sites of predilection of pemphigus vulgaris

A
Scalp
Face
Chest
Axilla 
Groin
Umbilicus
18
Q

Drugs implicated in drug induced pemphigus vulgaris

A

Captopril

D-penicillamine

19
Q

Type of pemphigus that has no mucosal lesions

Starts with scaly crusted lesions on an erythematous base

A

Pemphigus foliaceus

20
Q

Site of predilection of pemphigus foliaceus

A

Face
Scalp
Upper chest
Abdomen

21
Q

Localized variant of pemphigus foliaceus largely confined to seborrheic sites

A

Pemphigus erythematosus

22
Q

Treatment for pemphigus

A

Prednisone 2-3mg/kg

Concomitant immunosuppressive agents:
Azathiorine, MTX, cyclophosphamide, mycophenolate mofetil, IVIG, rituximab

23
Q

Most common bullous autoimmune disease

A

Bullous pemphigoid

24
Q

Bullous autoimmune disease usually in the elderly

Pruritic papular and/or urticarial lesions with large tense bullae

Subepidermal blisters with eosinophils

A

Bullous pemphigoid

25
Q

Sites of predilection of Bullous pemphigoid

A

Axilla
Medial thighs, groin, abdomen
Flexor forearm
Lower legs ( often first manifestation)

26
Q

Management of Bullous pemphigoid

A

Systemic prednisone 50-100mg/day

Azathioprine
IVIG

Dapsone, MTX- milder cases

27
Q

Pemphigoid gestationis occurs when in pregnancy?

A

4th-7th month

28
Q

Chronic, recurrent, intensely pruritic
Sx precede lesions by 8-12h

Tiny vesicles, papules and urticarial plaques arranged in groups

Associated with gluten-sensitive enteropathy

A

Dermatitis herpetiformis

29
Q

Patients with dermatitis herpetiformis have antibodies to this enzyme

A

Transglutaminases

30
Q

Dermatitis herpetiformis patients have this deposits in the skin

A

IgA

31
Q

Sites of predilection of dermatitis herpetiformis

A

Typical and almost diagnostic
Extensor areas- elbow knee
Strikingly symmetrical
Buttocks, scapular, sacral areas “butterfly fashion “

32
Q

Management of dermatitis herpetiformis

A

Dapsone 100-150mg daily
Sulfapyridine 1-15g per day
Gluten free diet

33
Q

Chronic subepidermal bullous disease associated with autoimmunity to type VII collagen

A

Epidermolysis bullosa acquisita