Sec 8 Disorders of Epidermal and DermalEpidermal Adhesion and Vesicular and Bullous Disorders

Question 1

Desmoglein 1

Answer 1

Pemphigus foliaceus, pemphigus vulgaris
Striate PPK (AD)

Question 2

Desmoglein 2

Answer 2

Arrhythmogenic right ventricular cardiomyopathy (AD)

Question 3

Desmoglein 3

Answer 3

Pemphigus vulgaris, paraneoplastic pemphigus

Question 4

Desmoglein 4

Answer 4

Pemphigus foliaceus, pemphigus vulgaris

Hypotrichosis (AR); Monilethrix (AR)

Question 5

Desmocollin 1

Answer 5

IgA pemphigus (subcorneal pustular dermatosis)

Question 6

Desmocollin 2

Answer 6

Arrhythmogenic right ventricular cardiomyopathy (AR and AD)

Question 7

Desmocollin 3

Answer 7

Pemphigus vulgaris

Hypotrichosis (AR)

Question 8

Desmoplakin I/II

Answer 8

Paraneoplastic pemphigus
Striate PPK (AD); Carvajal syndrome (AR): diffuse PPK, wooly hair, left ventricular cardiomyopathy; lethal acantholytic epidermolysis bullosa (AR); skin fragilitywooly hair syndrome (AR): PPK, wooly hair, nail dystrophy

Question 9

Plakoglobin

Answer 9

Naxos disease: diffuse PPK, wooly hair, Arrhythmogenic right ventricular cardiomyopathy (AR)

Question 10

Plakophilin 1

Answer 10

Skin fragility and ectodermal dysplasia (AR)

Question 11

Plakophilin 2

Answer 11

Arrhythmogenic right ventricular cardiomyopathy (AD)

Question 12

Corneodesmosin

Answer 12

Hypotrichosis simplex of the scalp (AD)

Question 13

Ubiquitous components of Basement Membrane

Answer 13

Collagen IV
Laminins
Nidogens
Perlecan

Question 14

Cytoskeletal proteins - Keratin 5 and 14

Answer 14

Epidermolysis Bullosa Simplex

Question 15

Hemidesmosomal plaque protein - BPA1/BP230

Answer 15

Bullous Pemphigoid

Epidermolysis Bullosa Simplex

Question 16

Hemidesmosomal plaque protein - Plectin

Answer 16

Bullous Pemphigoid
Cicatricial Pemphigoid
Epidermolysis Bullosa Simplex - Muscular Dystrophy
Junctional Epidermolysis Bullosa - Pyloric Atresia

Question 17

Kindlin-1

Answer 17

Kindler Syndrome

Question 18

Hemidesmosomal transmembrane components - Collagen XVII/BP180

Answer 18

Bullous Pemphigoid
Cicatricial Pemphigoid
Linear Immunoglobulin A Dermatosis
Pemphigoid Gestationis
Junctional Epidermolysis Bullosa - Non-Herlitz

Question 19

Hemidesmosomal transmembrane components - α6β4 integrin

Answer 19

Bullous Pemphigoid
Cicatricial Pemphigoid
Junctional Epidermolysis Bullosa - Pyloric Atresia

Question 20

Hemidesmosomal transmembrane component - CD151

Answer 20

Pretibial Epidermolysis Bullosa
Nephritis
Deafness
β-thalassemia minor

Question 21

Anchoring filament protein - Laminin 332

Answer 21

Cicatricial Pemphigoid
Junctional Epidermolysis Bullosa - Herlitz
Junctional Epidermolysis Bullosa - Non-Herlitz

Question 22

Anchoring filament protein - Ectodomain of collagen XVII

Answer 22

Linear Immunoglobulin A Dermatosis
Bullous Pemphigoid
Junctional Epidermolysis Bullosa - Non-Herlitz

Question 23

Anchoring fibril protein - Collagen VII

Answer 23

Epidermolysis Bullosa Acquisita

Dystrophic Epidermolysis Bullosa