diseases a/w epidermal/dermal proteins

Question 1

plectin

Answer 1

ebs w muscular dystrophy

paraneoplastic pemphigus

Question 2

alpha 6 beta 4 integrin

Answer 2

JEB w pyloric atresia
cicatricial pemphigus (ocular)

Question 3

BPAG1

Answer 3

BP

PNP

Question 4

BPAG2

Answer 4

NC16A–> BP, LABD, pemphigoid gestationis

Carboxy terminus–> CP

Question 5

laminin 332 (5)

Answer 5

JEB (herlitz type)

CP (inc r/o cancer)

Question 6

Collagen VII

Answer 6

DEB mutated
bullous lupus (antibodies)
EBA (antibodies)

Question 7

Plakoglobin

Answer 7

Naxos disease

Question 8

Desmocollin 1

Answer 8

subcorneal pustular dermatosis (type of IgA pemphigus)

Question 9

Dsg1

Answer 9

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

Question 10

Dsg3

Answer 10

PV (mucosal dominant)

PNP

Question 11

Dsg4

Answer 11

monilethrix (AR)

Question 12

Desmoplakin 1/2

Answer 12

Carvajal sx
striate PPK
skin fragility/woolly hair sx
PNP

Question 13

Plakophilin

Answer 13

Ectodermal dysplasia/skin fragility sx

Question 14

Connexin 26

Answer 14

KID sx
PPK w deafness
Vohwinkel sx

Question 15

Connexin 30

Answer 15

Hidrotic ED

Question 16

Connexin 30.3/31

Answer 16

Erythrokeratoderma variabilis

Question 17

B catenin

Answer 17

pilomatricomas, multiple can be a/w muscular dystrophy

Question 18

Loricrin

Answer 18

Vohwinkel (variant)

progressive symmetric erythrokeratoderma

Question 19

Fillagrin/KHG

Answer 19

IV

AD

Question 20

Transglutaminase 1

Answer 20

lamellar icthyosis

Question 21

Transglutaminase 2

Answer 21

dermatitis herpetiformis