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Bullous and Vesicular Dermatoses > Antibodies, Mutations, IF patterns etc. > Flashcards

Antibodies, Mutations, IF patterns etc. Flashcards

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1
Q

Split location -> Diseases

Subcorneal

A

Pemphigus foliaceus

Pemphigus erythematosus

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2
Q

Split location -> Diseases

Suprabasilar

A

Pemphigus vulgaris

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3
Q

Split location -> Diseases

At or within basal layer

A

Bullous pemphigoid

Linear IgA disease

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4
Q

Split location -> Diseases

Below basal cells

A

Cicatricial pemphigoid
Porphyria cutanea tarda
Epidermolysis bullosa acquisita

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5
Q

Name three proteins in armadillo family (plaque proteins that function in adhesion)

A

Beta-catenin
Plakoglobin (85 kDa)
Plakophilin

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6
Q

Mutation in beta-catenin -> which disorders

A

Pilomatricomas

Colorectal carcinoma

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7
Q

Mutation in plakoglobin -> which disorder

A

Naxos disease

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8
Q

Mutation in plakophilin 1 -> which disorder

A

Ectodermal dysplasia with skin fragility

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9
Q

Antigenic to plakoglobin ->

A

Coprecipitates with desmogleins in pemphigus foliaceus and pemphigus vulgaris

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10
Q

What are cadherins?

A

Calcium-dependent adhesion molecules

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11
Q

Where are cadherins?

A

In adherens junctions and desmosomes

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12
Q

Name three cadherins desmosomal type

A

Desmoglein 1
Desmoglein 3
Desmocollins

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13
Q

Mutation in desmoglein 1 -> which disorder

A

Striate palmoplantar keratoderma (PPK) type 1

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14
Q

Mutation in E-cadherin -> which disorder

A

Gastric cancer

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15
Q

Antigenic to desmoglein 1 ->

A

Pemphigus foliaceus

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16
Q

Antigenic to desmoglein 1 ->

A

Ritter’s disease

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17
Q

Antigenic to desmoglein 1/3 ->

A

Mucocutaneous pemphigus vulgaris

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18
Q

Antigenic to desmoglein 3 ->

A

Mucosal pemphigus vulgaris

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19
Q

Antigenic to desmocollin ->

A

IgA pemphigus

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20
Q

Transglutaminase 1 ->

A

Mutated in lamellar ichthyosis

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21
Q

Transglutaminase 3 ->

A

77 kDa, the antigen for dermatitis herpetiformis

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22
Q

Where are integrins found?

A

Between cell membranes and basement membrane

Focal contacts and hemidesmosomes

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23
Q

Mutation in integrin (alpha-6-beta-4-integrin) ->

A

Junctional epidermolysis bullosa with pyloric atresia

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24
Q

Antigenic to integrin (beta-4-integrin) ->

A

Ocular cicatricial pemphigoid

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25
Mutation in keratin 1 ->
Ichthyosis hystrix
26
Mutation in keratin 1/10 ->
Epidermolytic ichthyosis | Epidermal nevi with EHK
27
Mutation in keratin 1/16 ->
Nonepidermolytic PPK
28
Mutation in keratin 2e ->
Ichthyosis bullosa of Siemens
29
Mutation in keratin 3/12 ->
Corneal dystrophy of Meesmann
30
Mutation in keratin 4/13 ->
White sponge nevus of Cannon
31
Mutation in keratin 5/14 ->
Epidermolysis bullosa simplex variants
32
Mutation in keratin 6a/16 ->
Pachyonychia congenita
33
Mutation in keratin 6b/17 ->
Pchyonychia congenita
34
Mutation in keratin 9 ->
Epidermolytic PPK
35
Mutation in lamin a ->
Progeria
36
What are plakins?
Plaque proteins that function in adhesion, in desmosomes or in hemidesmosomes
37
Which plakins are in desmosomes?
Desmoplakin I and II Envoplakin Periplakin
38
Which plakins are in hemidesmosomes?
Bullous pemphigoid antigen I (BPAg1, 230 kDa) | Plectin (500 kDa)
39
Mutation in desmoplakin ->
Striate PPK | Left ventricular cardiomyopathy with woolly hair and striate PPK
40
Mutation in plectin ->
EB with muscular dystrophy
41
Antigenic to desmo-/envo-/peri-plakin, BPAg1
Paraneoplastic pemphigus
42
Antigenic to desmoplakin I and II ->
Stevens-Johnson syndrome
43
Antigenic to BPAg1 ->
Bullous pemphigoid
44
BPAg2 is also known as -> and MW
Collagen XVII, 180 kDa
45
Mutation in connexin 26 ->
Vohwinkel's syndrome KID syndrome PPK with deafness
46
Mutation in connexin 30.3, 31 ->
Erythrokeratoderma variabilis
47
Mutation in connexin 30 ->
Hidrotic ectodermal dysplasia
48
Mutation in BPAg2 ->
Generalized atrophic benign EB
49
Mutation in laminin 5 ->
JEB, Herlitz type
50
Mutation in plectin ->
EBS with muscular dystrophy
51
Mutation in alpha-6-beta-4-integrin ->
Junctional EB with pyloric atresia
52
Antigenic to BPAg1 and BPAg2-NC16A ->
Bullous pemphigoid
53
Antigenic to BPAg2 ->
Lichen planus pemphigoides
54
Antigenic to part of BPAg2 ->
Linear IgA disease
55
Antigenic to BPAg2-NC16A ->
Herpes gestationis
56
Antigenic to PBAg2-C terminal domain ->
Cicatricial pemphigoid
57
Antigenic to laminin 5 ->
Cicatricial pemphigoid
58
Antigenic to beta-4-integrin ->
Ocular cicatricial pemphigoid
59
Tense bullae -> 3 ddx
Bullous pemphigoid Epidermolysis bullosa acquisita Herpes gestationis
60
DIF pattern in BP
Linear basement membrane C3 in 95% and IgG4 in 80%
61
IIF pattern in BP
Linear at basement membrane
62
Abs in BP against ->
BPAg1 | BPAg2-NC16A
63
Drug-induced BP, name the culprits
Furosemide, sulfa, thiol-containing drugs (captopril, penicillamine, gold thiosulfate), NSAIDS, penicillin derivatives, cardiovascular drugs (enalapril, nadolol, practolol), PUVA
64
Salt Split Skin Epidermis -> Dermis ->
- > Bullous pemphigoid | - > Epidermolysis bullosa acquisita, cicatricial pemphigoid, bullous pemphigoid, bullous lupus erythematosus
65
``` Chronic Bullous Diseases of Childhood (Linear IgA) Location -> Histology -> DIF -> Abs -> Treatments -> ```
- > Lower exts, groin, perioral, scalp - > Subepidermal bullae with neutrophils at the DE junction - > Linear IgA - > 97 kDa antigen that is a part of BPAg2 - > Resolves spontaneously, dapsone, sulfapyridine, steroids
66
IF pattern in BP ->
Linear C3/IgG (epidermal and/or dermal side of split skin)
67
IF pattern in herpes gestationis ->
Linear C3/IgG
68
IF pattern in epidermolysis bullosa acquisita ->
Linear IgG + others (dermal side of split skin)
69
IF pattern in bullous lupus erythematosus ->
Linear IgG + others, linear or discontinuous
70
IF pattern in porphyria cutanea tarda ->
Multiple Ig's, complement, and/or fibrin at junction or around vessels
71
IF pattern in cicatricial pemphigoid ->
Linear C3/IgG, sometimes IgA
72
IF pattern in pemphigus ->
Intercellular IgG/C3
73
IF pattern in dermatitis herpetiformis ->
Granular or fibrillar IgA
74
IF pattern in linear IgA ->
Linear IgA
75
IF pattern in chronic bullous disease of childhood ->
Linear IgA
76
``` Cicatricial pemphigoid Location -> Histology -> DIF -> Drug-induced CP -> ```
- > Erosions, ulcers on the oral mucosa always, desquamative gingivitis, conjunctiva, skin in 25% - > Subepithelial bullae, like BP - > Linear C3, IgG, fibrinogen at BM in 90% - > Topical med for glaucoma, CV drugs (practolol)
77
Cicatricial pemphigoid Abs against -> Occular form -> Associated with malignancy ->
- > BPAg2 distal C-terminal domain - > beta-4-integrin - > laminin 5 (epiligrin, BM600, kalinin, nicein)
78
Brunsting-Perry pemphigoid
- > No mucosal involvement, blisters on patches of erythema on the head and neck with scarring/scarring alopecia - > Treat with topical/intralesional/PO steroids, dapsone, cyclophosphamide, azathioprine
79
``` Dermatitis Herpetiformis Location -> Histology -> DIF -> Abs -> HLA association -> Treatments -> ```
- > Pruritic grouped vesicles, symmetrically on extensor surfaces, polymorphous lesions - > Suprapapillary vesicles, multilocular, mostly neutrophils, papillary dermis/BMZ destroyed due to inflammatory infiltrate (no festooning) - >

Bullous and Vesicular Dermatoses (3 decks)

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