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

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1
Q

Desmoglein 1

A
Pemphigus foliaceus, pemphigus vulgaris
Striate PPK (AD)
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2
Q

Desmoglein 2

A

Arrhythmogenic right ventricular cardiomyopathy (AD)

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3
Q

Desmoglein 3

A

Pemphigus vulgaris, paraneoplastic pemphigus

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4
Q

Desmoglein 4

A

Pemphigus foliaceus, pemphigus vulgaris

Hypotrichosis (AR); Monilethrix (AR)

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5
Q

Desmocollin 1

A

IgA pemphigus (subcorneal pustular dermatosis)

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6
Q

Desmocollin 2

A

Arrhythmogenic right ventricular cardiomyopathy (AR and AD)

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7
Q

Desmocollin 3

A

Pemphigus vulgaris

Hypotrichosis (AR)

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8
Q

Desmoplakin I/II

A
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
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9
Q

Plakoglobin

A

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

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10
Q

Plakophilin 1

A

Skin fragility and ectodermal dysplasia (AR)

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11
Q

Plakophilin 2

A

Arrhythmogenic right ventricular cardiomyopathy (AD)

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12
Q

Corneodesmosin

A

Hypotrichosis simplex of the scalp (AD)

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13
Q

Ubiquitous components of Basement Membrane

A

Collagen IV
Laminins
Nidogens
Perlecan

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14
Q

Cytoskeletal proteins - Keratin 5 and 14

A

Epidermolysis Bullosa Simplex

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15
Q

Hemidesmosomal plaque protein - BPA1/BP230

A

Bullous Pemphigoid

Epidermolysis Bullosa Simplex

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16
Q

Hemidesmosomal plaque protein - Plectin

A

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

17
Q

Kindlin-1

A

Kindler Syndrome

18
Q

Hemidesmosomal transmembrane components - Collagen XVII/BP180

A
Bullous Pemphigoid
Cicatricial Pemphigoid
Linear Immunoglobulin A Dermatosis
Pemphigoid Gestationis
Junctional Epidermolysis Bullosa - Non-Herlitz
19
Q

Hemidesmosomal transmembrane components - α6β4 integrin

A

Bullous Pemphigoid
Cicatricial Pemphigoid
Junctional Epidermolysis Bullosa - Pyloric Atresia

20
Q

Hemidesmosomal transmembrane component - CD151

A

Pretibial Epidermolysis Bullosa
Nephritis
Deafness
β-thalassemia minor

21
Q

Anchoring filament protein - Laminin 332

A

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

22
Q

Anchoring filament protein - Ectodomain of collagen XVII

A

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

23
Q

Anchoring fibril protein - Collagen VII

A

Epidermolysis Bullosa Acquisita

Dystrophic Epidermolysis Bullosa