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dz a/w epidermal/dermal proteins > diseases a/w epidermal/dermal proteins > Flashcards

diseases a/w epidermal/dermal proteins Flashcards

1
Q

plectin

A

ebs w muscular dystrophy

paraneoplastic pemphigus

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2
Q

alpha 6 beta 4 integrin

A 
JEB w pyloric atresia
cicatricial pemphigus (ocular)
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3
Q

BPAG1

A

BP

PNP

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4
Q

BPAG2

A

NC16A–> BP, LABD, pemphigoid gestationis

Carboxy terminus–> CP

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5
Q

laminin 332 (5)

A

JEB (herlitz type)

CP (inc r/o cancer)

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6
Q

Collagen VII

A

DEB mutated
bullous lupus (antibodies)
EBA (antibodies)

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7
Q

Plakoglobin

A

Naxos disease

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8
Q

Desmocollin 1

A

subcorneal pustular dermatosis (type of IgA pemphigus)

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9
Q

Dsg1

A 
striate PPK
p. foliaceous
p vulgaris-> mucocutaneous
bullous impetigo
SSSS
PNP
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10
Q

Dsg3

A

PV (mucosal dominant)

PNP

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11
Q

Dsg4

A

monilethrix (AR)

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12
Q

Desmoplakin 1/2

A

Carvajal sx
striate PPK
skin fragility/woolly hair sx
PNP

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13
Q

Plakophilin

A

Ectodermal dysplasia/skin fragility sx

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14
Q

Connexin 26

A

KID sx
PPK w deafness
Vohwinkel sx

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15
Q

Connexin 30

A

Hidrotic ED

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16
Q

Connexin 30.3/31

A

Erythrokeratoderma variabilis

17
Q

B catenin

A

pilomatricomas, multiple can be a/w muscular dystrophy

18
Q

Loricrin

A

Vohwinkel (variant)

progressive symmetric erythrokeratoderma

19
Q

Fillagrin/KHG

A

IV

AD

20
Q

Transglutaminase 1

A

lamellar icthyosis

21
Q

Transglutaminase 2

A

dermatitis herpetiformis

dz a/w epidermal/dermal proteins (1 decks)

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