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EV ACVD Study > Genes, AISBD, Pemphigoid Antibody Targets, Hair > Flashcards

Genes, AISBD, Pemphigoid Antibody Targets, Hair Flashcards

1
Q

Gene American Bulldog ichthyosis

A

NIPAL-4
(Nipa-Like Domain-Containing 4)
Co-factor for FATP4 (Fatty acid transporter 4)

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2
Q

Mode of inheritance American bulldog ichthyosis

A

Autosomal recessive

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3
Q

Age of onset American bulldog ichthyosis

A

Before weaning

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4
Q

Clinical signs American bulldog ichthyosis

A

-Generalized white scale
-Erythema + adherent scale on ventrum
-Malassezia overgrowth –> pruritus

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5
Q

Genes (2!) golden retriever ichthyosis

A

1) PNPLA-1
(Patatin-like phospholipase domain-containing protein)
Acetyltransferase
Needed for CLE formation

2) ABHD5

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6
Q

Mode of inheritance golden retriever ichthyosis

A

Autosomal recessive

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7
Q

Age of onset golden retriever ichthyosis

A

<1 year; can manifest in adults. May be transient in puppies

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8
Q

Clinical signs golden retriever ichthyosis

A

-Generalized large, white/grey scale
-Ventral hyperpigmentation
-Uncommon 2’ pyoderma, Malassezia

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9
Q

Mode of inheritance jack russell terrier ichthyosis

A

Autosomal recessive

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10
Q

Gene Jack Russel Terrier ichthyosis

A

TGM1
(Transglutaminase 1)
Formation of cornified envelope

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11
Q

Age of onset jack russel terrier ichthyosis

A

birth

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12
Q

Clinical signs jack russell terrier ichthyosis

A

-Severe generalized adherent yellow/brown scale
-2’ Malassezia overgrowth

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13
Q

Gene Great Dane ichthyosis

A

SLC27A4
(Solute Carrier Family 27 Member 4)
Encodes FATP4 synthesis of long chain fatty acids

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14
Q

Mode of inheritance Great Dane ichthyosis

A

Autosomal recessive

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15
Q

Age of onset Great Dane ichthyosis

A

Birth

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16
Q

Clinical signs Great Dane ichthyosis

A

-Greasy scale, wrinkling of face and extremities
-Nonviable into adulthood

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17
Q

Gene Cavalier King Charles Spaniel ichthyosis

A

FAM83H
(Family With Sequence Similarity 83 Member H)

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18
Q

Mode of inheritance CKCS ichthyosis

A

Autosomal recessive

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19
Q

Age of onset CKCS ichthyosis

A

Birth

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20
Q

Clinical signs CKCS ichthyosis

A

-KCS
-Scaling, abdominal pigmentation
-Curly pelage
-Pawpad hyperkeratosis
-Nail dystrophy

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21
Q

Gene German Shepherd Dog ichthyosis

A

ASPRV
(Aspartic Peptidase Retroviral)
Profilaggrin-filaggrin processing

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22
Q

Mode of inheritance GSD Ichthyosis

A

de novo

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23
Q

Age of onset GSD ichthyosis

A

birth

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24
Q

Clinical signs GSD ichthyosis

A

Generalized scaling

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25
Q

Gene labrador retriever pawpad hyperkeratosis, linear hyperkeratotic plaques, and follicular fronds

A

NSDHL
(NAD(P)H steroid dehydrogenase-like protein)
Required to convert lanosterol to cholesterol

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26
Q

Mode of inheritance labrador retreiver pawpad hyperkeratosis, linear hyperkeratotic plaques, and follicular fronds

A

X-linked semidominant

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27
Q

Age of onset labrador retreiver follicular parakeratosis

A

Puppy

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28
Q

Clinical signs labrador retreiver follicular parakeratosis

A

-Linear hyperkeratotic plaques
-Follicular fronds
-Pawpad hyperkeratosis

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29
Q

Gene chihuahua disorder of cornification

A

NSDHL
(NAD(P)H steroid
dehydrogenase-like protein)
Cholesterol processing

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30
Q

Mode of inheritance chihuahua Keratinocytic Nevi

A

X-linked semidominant

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31
Q

Age of onset chihuahua Keratinocytic Nevi

A

puppy

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32
Q

Clinical signs chihuahua disorder of cornification

A

Linear verrucous nevi

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33
Q

Darier disease gene

A

ATP2A2

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34
Q

Hailey Hailey disease gene

A

ATP2C1

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35
Q

Color dilution alopecia gene

A

MLPH
(melanophilin)

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36
Q

Epidermolysis bullosa simplex in Fresian cows

A

Keratin 5, Keratin 14

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37
Q

Epidermolysis bullosa simplex in Eurasier (dog)

A

PLEC
Plectin deficiency

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38
Q

Autoantibody target in paraneoplastic pemphigus

A

DSG3 + Plakins (ie: BPAG1, periplakin)

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39
Q

Epidermolysis bullosa acquisita

A

NC1 region of collagen 7 (COL7A1)

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40
Q

EBA breed

A

Great Dane

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41
Q

EBA lesion distribution

A

Haired skin (foot pad sloughing, frictional areas) + MC junctions + mucosae

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42
Q

MMP breed

A

GSD

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43
Q

MMP age, sex

A

middle age (6 yo), none

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44
Q

EBA age, sex

A

young, males

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45
Q

MMP lesion distribution

A

Mucocutaneous junctions, mucosae (NOT haired skin, no footpad sloughing)

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46
Q

MMP major autoantigen, minor autoantigen

A

Major: Collagen XVII
Minor: Laminin-332, BPAG1-e (BP230)

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47
Q

Bullous pemphigoid age, sex

A

middle age (5), none

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48
Q

Bullous pemphigoid breed

A

None

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49
Q

Bullous pemphigoid major autoantigen, minor autoantigen

A

Major: NC16A domain of Collagen XVII (BPAG2, BP180)
Minor: BPAG1 (BP230)

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50
Q

Bullous pemphigoid lesion distribution

A

Haired skin predominant (concave pinnae, trunk) + mucosa, MC junctions. No food pad sloughing

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51
Q

Junctional EBA breed

A

None

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52
Q

Junctional EBA age, sex

A

None, none

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53
Q

Junctional EBA lesion distribution

A

Haired skin (footpad sloughing, frictional areas) + mucosae, MC junctions. Similar to EBA!
100% have pinnae and oral cavity affected

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54
Q

Junctional EBA Major autoantigen

A

Alpha-3 and beta-3 chains of laminin-332

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55
Q

Mixed AISBD breed

A

none

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56
Q

Mixed AISBD age, sex

A

None, None

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57
Q

Mixed AISBD lesion distribution

A

haired skin predominant (concave pinnae, trunk) + mucosae, MC junctions (similar to BP). Uncommon footpad sloughing

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58
Q

Mixed AISBD major autoantigens

A

Collagen VII, Laminin 332

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59
Q

Linear IgA Disease breed

A

None

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60
Q

Linear IgA Disease age, sex

A

none, none

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61
Q

Linear IgA Disease lesion distribution

A

Mucosae, haired skin (ears, nasal planum, extremities)

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62
Q

Bullous SLE breed

A

None

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62
Q

Linear IgA Disease major autoantibodies

A

Collagen XVII

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63
Q

Bullous SLE age, sex

A

none, none

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64
Q

Bullous SLE lesion distribution

A

haired skin, footpads, mucosae, MC junctions

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65
Q

Bullous SLE major autoantigen

A

NC1 domain of Collagen VII

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66
Q

What AISBDs have been reported in cats?

A

MMP, BP

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67
Q

What AISBDs have been reported in pigs and horses?

A

Bullous pemphigoid

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68
Q

Which AISBD primarily affects mucous membranes?

A

MMP

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69
Q

Which AISBDs primarily affects haired skin?

A

BP, mixed AISBD

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70
Q

Which AISBDs affect both haired skin and mucosae commonly?

A

EBA, JEB

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71
Q

Pemphigus foliaceus target autoantigen in dogs

A

DSC1

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72
Q

Pemphigus vulgaris target autoantigens in dogs and horses

A

DSG3
DSG1 in mucocutaneous forms

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73
Q

Pemphigus vegetans target autoantigen

A

DSG1

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74
Q

MMP: indirect immunofluorescence w/salt split BMZ staining

A

Mixed

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75
Q

JEBA: indirect immunofluorescence w/salt split BMZ staining

A

Floor

(Mixed)

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76
Q

BP: indirect immunofluorescence w/salt split BMZ staining

A

Epidermal

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77
Q

LAD: indirect immunofluorescence w/salt split BMZ staining

A

Epidermal

78
Q

PG: indirect immunofluorescence w/salt split BMZ staining

A

Epidermal

(Col17)

79
Q

EBA: indirect immunofluorescence w/salt split BMZ staining

A

Dermal

80
Q

JEBA: indirect immunofluorescence w/salt split BMZ staining

A

Dermal

(Mixed)

81
Q

Mixed AISBD: indirect immunofluorescence w/salt split BMZ staining

A

Dermal

82
Q

Bullous SLE: indirect immunofluorescence w/salt split BMZ staining

A

Dermal

83
Q

BP: anti-collagen IV IHC or PAS stain

A

Dermal

84
Q

PG: anti-collagen IV IHC or PAS stain

A

Dermal

85
Q

JEBA: anti-collagen IV IHC or PAS stain

A

Dermal

86
Q

LAD: anti-collagen IV IHC or IF or PAS stain

A

Dermal

87
Q

JEBA: anti-collagen IV IHC or IF or PAS stain

A

Mixed

88
Q

EBA: anti-collagen IV IHC or IF or PAS stain

A

Epidermal

89
Q

BSLE: anti-collagen IV IHC or IF or PAS stain

A

Epidermal

90
Q

Dystrophic EB gene in Akita, Golden retriever (mild, recessive), central asian shepherds, Bassett Hounds, cats (mild, recessive) cows, sheep

A

COL7A1
Collagen VII

91
Q

EB Simplex Gene in quarter horses

A

Plectin

92
Q

Junctional EB gene in Charolais calves

A

α6/β4 integrin

93
Q

Junctional EB gene in American Saddlebred horses (lethal!), GSHP

A

LAMA3
Laminin 332

94
Q

AISBDs with target being Laminin 332

A

Mixed AISBD, Junctional EBA, Junctional EB, and minor target for MMP

95
Q

Erosive skin fragility disease/ Ectodermal dysplasia in Chesapeake Bay Retrievers Gene

A

PKP1
Plakophilin-1

96
Q

Canine Junctional EB breed

A

german shorthair pointers

97
Q

Chinese Crested Dog, Mexican hairless dog, Peruvian Inca Orchid ectodermal dysplasia gene

A

FoxI3
Lethal if homozygous
Dentition issues

98
Q

Chinese Crested Dog mode of inheritance

A

autosomal semi-dominant

99
Q

American Hairless Terrier congenital alopecia gene

A

SGK3

100
Q

American Hairless terrier congenital alopecia mode of inheritance

A

autosomal recessive

101
Q

Anhidrotic Ectodermal dysplasia gene

A

EDA

102
Q

Anhidrotic Ectodermal dysplasia mode of inheritance

A

X-linked, rarely affects females

103
Q

Naked Foal Syndrome gene, breed, MOI

A

ST14, Akhal-Teke horse, autosomal recessive

104
Q

Birman cat congenital hypotrichosis gene

A

FoxN1

105
Q

Sphynx cat, Hereford cattle IRS abnormality gene

A

KRT 71

106
Q

Hair shaft dysplasia resulting in Lancelot hairs (thickened hair shaft that fracture) in cats, mice gene

A

DSG4

107
Q

Epidermolytic ichthyosis gene

A

Keratin 10

108
Q

Epidermolytic ichthyosis breed

A

Norfolk terrier

109
Q

Epidermolytic ichthyosis mode of inheritance

A

Autosomal recessive

110
Q

Gene hereditary nasal hyperparakeratosis

A

SUV39H2

111
Q

Breed hereditary nasal hyperparakeratosis

A

Labrador retrievers, greyhounds

112
Q

Familial Paw Pad Hyperkeratosis genes (2!), mode of inheritance

A

1) FAM83G in Irish Terrier, Kromfohrlander
(*Dont confuse with FAM83H, which is ichthyosiform dermatosis + KCS)
2) KRT16 in Dogue de Bordeaux
BOTH) Autosomal recessive

113
Q

Familial Paw Pad Hyperkeratosis breeds

A

Dogue de Bordeaux, Irish terrier, Kromfohrlander

114
Q

Lethal acrodermatitis gene

A

MKLN1
Defect in zinc metabolism. Diarrhea, Pneumonia, deformed claws

115
Q

Lethal acrodermatitis breed

A

bull terriers

116
Q

Bovine hereditary zinc deficiency lethal trait A46 gene

A

SLC39A4
(Great dane ichthyosis is SLC27A4)

117
Q

Fleckvien cattle gene causing crusty skin, diarrhea, stunted growth, pneumonia

A

PLD4
Phospholipase D
Euthanize– do not respond to Zinc supplement

118
Q

Shar Pei ichthyosis gene

A

KRT1

119
Q

Shar Pei ichthyosis mode of inheritance

A

Autosomal DOMINANT

120
Q

GSD ichthyosis gene

A

ASPRV1

121
Q

GSD ichthyosis mode of inheritance

A

Autosomal DOMINANT

122
Q

Rottweiler footpad hyperkeratosis gene

A

DSG1

123
Q

Rottweiler footpad hyperkeratosis mode of inheritance

A

Autosomal recessive/semi-dominant

124
Q

Acral Mutilation Syndrome gene

A

GDNF

125
Q

Acral Mutilation Syndrome breeds

A

Hunting dogs

126
Q

Acral Mutilation Syndrome mode of inheritance

A

autosomal recessive

127
Q

Darier disease breed

A

Irish Terrier
(also get footpad hyperkeratosis FAM83G)

128
Q

Darier disease mode of inheritance

A

Autosomal DOMINANT

129
Q

Exfoliative Cutaneous Lupus Erythematosus gene

A

UNC93B1

130
Q

Exfoliative Cutaneous Lupus Erythematosus breed

A

German Shorthair Pointer, hunting breeds

131
Q

Exfoliative Cutaneous Lupus Erythematosus mode of inheritance

A

autosomal recessive

132
Q

Dermoid sinus genes

A

FGF3, FGF4, FGF19

133
Q

Dermoid sinus breeds

A

Rhodesian ridgeback, Thai ridgeback

134
Q

Dermoid sinus mode of inheritance

A

autosomal recessive

135
Q

Dilute hair coat with NEUROLOGIC defects gene

A

MYO5A

136
Q

Dilute hair coat with NEUROLOGIC defects breed

A

Dachshund

137
Q

Dilute hair coat with NEUROLOGIC defects mode of inheritance

A

Autosomal recessive

138
Q

Anhidrotic ectodermal dysplasia breeds

A

Dachshunds, GSD, mixed breeds

139
Q

Type VII Ehlers Danlos/ Dermatosparaxis gene

A

ADAMTS2

140
Q

Type VII Ehlers Danlos/ Dermatosparaxis breed

A

Doberman

141
Q

Type VII Ehlers Danlos/ Dermatosparaxis mode of inheritance

A

Autosomal recessive

142
Q

Type I Ehlers Danlos/ Dermatosparaxis gene

A

COL5A1

143
Q

Type I Ehlers Danlos/ Dermatosparaxis breed

A

Labrador retrievers

144
Q

Type I Ehlers Danlos/ Dermatosparaxis mode of inheritance

A

Autosomal DOMINANT

145
Q

Hyaluronanosis gene

A

HAS2

146
Q

Hyaluronanosis breed

A

Shar Pei
(also get ichthyosis, KRT1, autosomal dominant)

147
Q

Ligneous Membranitis gene

A

PLG

148
Q

Ligneous Membranitis breed

A

Scottish Terrier

149
Q

Ligneous Membranitis mode of inheritance

A

autosomal recessive

150
Q

Renal cystadenocarcinoma + nodular dermatofibrosis breed

A

German Shepherd

151
Q

Renal cystadenocarcinoma + nodular dermatofibrosis gene

A

FLCN

152
Q

Renal cystadenocarcinoma + nodular dermatofibrosis mode of inheritance

A

Autosomal DOMINANT

153
Q

Oculocutaneous albinism type 2 (dobie) gene

A

SLC45A2

154
Q

Oculocutaneous albinism mode of inheritance

A

autosomal recessive

154
Q

Oculocutaneous albinism type 2 breed

A

Doberman

155
Q

Musladin-Lueke Syndrome/ Geleophysic Dysplasia gene

A

ADAMTSL2

156
Q

Musladin-Lueke Syndrome/ Geleophysic Dysplasia breed

A

Beagles

157
Q

Musladin-Lueke Syndrome/ Geleophysic Dysplasia mode of inheritance

A

Autosomal recessive

158
Q

Gene associated with canine atopic dermatitis severity and TNFa expression

A

S100A8
Epidermal differentiation complex gene region (filaggrin, loricrin, involucrin)

159
Q

Gene associated with atopic dermatitis in Golden Retreivers

A

FLG (filaggrin)
RAB3C

160
Q

Gene associated with atopic dermatitis in GSD

A

Plakophilin 2 (PKP2)

161
Q

Gene associated with atopic dermatitis in WHWT

A

PTPN22

162
Q

Chromosome associated with high IgE levels in dogs

A

CFA5 in labs, CFA35 in WHWT

163
Q

Autoimmune AISBDs list:

A

BP, MMP, LAD, EBA, BSLE

164
Q

Congenital AISBDs list:

A

EB Simplex, Junctional EB, Dystrophic EB

165
Q

Shar Pei mucinosis

A

HAS2

166
Q

Lethal lavendar foal gene

A

Myosin 5a

167
Q

Feline acromelanism gene

A

Tyrosinase

168
Q

Pituitary Dwarfism gene

A

LHX3

169
Q

Piebaldism gene

A

c-kit / CD117, steel factor. Autosomal dominant

170
Q

Chediak-Higashi syndrome gene

A

LYST duplication (lysosomal trafficking regulator; lighter colored cats that are photophobic)

171
Q

Waardenburg-klein syndrome gene (type IV, Lethal White Foal syndrome)

A

Endothelin Receptor B

Others (MITF, PAX3, SOX10)

172
Q

Junctional EB gene in draft horses (Belgians = lethal!), German black-headed mutton sheep (lethal!)

A

LAMC2
Laminin 332

173
Q

Canine cyclic hematopoiesis (Gray collie syndrome) gene

A

Adaptor protein complex 3 (APB3)

174
Q

Gene responsible for nonrandom, symmetrical distribution of hair follicles

A

HOX

175
Q

Gene responsible for hair length

A

FGF-5

176
Q

Gene responsible for hair curl

A

Keratin-71

177
Q

Gene responsible for hair size/texture

A

R-spondin 2

178
Q

Gene/pathway responsible for initial placode development, hair follicle induction

A

Wnt/ β-catenin pathway

179
Q

Gene responsible for maturation of dermal papilla, elongation of hair germ, anagen inducer in mature follicles

A

Shh

180
Q

Gene responsible for differentiation of internal root sheath and hair shaft, inhibits follicle/placode development, catagen induction in mature follicle

A

BMP (member of TGF-β family)

181
Q

BMP antagonist, anagen inducer, increased Lef-1 expression

A

Noggin

182
Q

Catagen inducer in mature hair follicle

A

TGF-α/ EGF

183
Q

Catagen inducer in mature follicle; deficiency results in angora hair type (long anagen)

A

FGF5

184
Q

Promotes hair follicle development at placode level

A

EDA/EDAR
X-linked ectodermal dysplasia!

185
Q

Which 2 forms of pemphigus do you expect a positive Nikolsky sign?

A

Pemphigus vulgaris
Paraneoplastic pemphigus

186
Q

Which animals have been found to have pemphigus foliaceus?

A

Dog
Cat
Goat
Horse

187
Q

Which animals have been found to have pemphigus vulgaris?

A

Dog, Cat

188
Q

Which 2 animals have pustular dermatophytosis? (with AKs)

A

Dog, horse

189
Q

True or false: you may see AKs with exudative epidermitis in pigs?

A

True

190
Q

Protein/ Gene causing Hereditary Equine Regional Dermal Asthenia in quarter horses

A

Cyclophilin B/ peptidylprolyl isomerase B (PPIB)

191
Q

LAD autoantigen target

A

Collagen 17

EV ACVD Study (52 decks)

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