LT ACVD > Genodermatosis > Flashcards

Genodermatosis Flashcards

(88 cards)

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1
Q

Trichorrhexis Nodosa

A
  • Hair fragility
  • From trauma or permanent?
  • Look like two brooms being pushed together
  • Gives the coat an “un-even appearance”
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2
Q

Trichorrhexis Nodosa was reported in which breed?

A
  • Golden Retriever
  • May be more likely to be permanent
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3
Q

Trichoptilosis

A
  • Longitudinal splitting (split ends)
  • Solar, chemical, physical trauma
  • Permanent form in Goldens?
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4
Q

Medullary trichomalacia

A

Medulla vacuolates spontaneously in GSD

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5
Q

Pili torti

A

Curvature of the hair follicle, bull terrier in acrodermatitis

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6
Q

Spiculosis

A

Hard, brittle spicules. Kerry Blue Terrier.

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7
Q

Shaft disorder of Abyssinians

A

Whiskers and primary hair shafts affected. Rough and lusterless. Onion shaped swelling usually at tips, can fracture at swelling.

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8
Q

COL5A1

A

Cutaneous asthenia; Ehlers Danlos is autosomal dominant. Lab.

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9
Q

SGK3

A

American Hairless Terrier, Scottish Deerhound

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10
Q

FOX13

A

Chinese Crested & Mexican Hairless

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11
Q

MKLN1

A

Lethal acrodermatitis of Bull Terrier & Beagle; defective copper and zinc metabolism

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12
Q

FAM38G

A

Dogue de Bordeaux & Irish terrier (KRT16)

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13
Q

SUV39H2

A

Hereditary nasal parakeratosis (HNPK); serum lakes

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14
Q

Rottweiler with X-linked seborrhea that starts at birth and progresses

A

Congenital follicular parakeratosis (compared to CHILD syndrome), also seen in retrievers

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15
Q

ATP2A2

A

Darier’s disease, SERCA2 pump on ER restores calcium supplies; Irish Terriers / Setters. Acantholysis.

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16
Q

SOAT1

A

Congenital sebaceous hyperplasia of cats

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17
Q

ST14

A

Naked foal syndrome; Akhal-Teke horses. Abnormal teeth development, digestive disorder, laminitis.

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18
Q

NSDHL

A

Inflammatory linear verrucous epidermal nevi. Chihuahua and Cocker Spaniel.

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19
Q

FGF3, FGF4, FGF19

A

Dermoid sinus; Rhodesian Ridgeback; AUTOSOMAL DOMINANT

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20
Q

EDA

A

Ectodermal dysplasia that is X-linked recessive (Dachshund, GSD)

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21
Q

PKP1

A

Chesapeake Bay Retriever; ectodermal dysplasia skin fragility at birth

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22
Q

FLCN

A

AKA BHD; nodular dermatofibrosis in GSD, autosomal dominant, renal cystadenocarcinomas or uterine leiomyomas

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23
Q

KRT5

A

Cattle EBS: autosomal dominant

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24
Q

LAMC2

A

JEB: Belgian draft horse, Danish Hereford, German black headed sheep

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25
LAMA3
JEB: GSP, Saddlebred, Belgian blue cattle
26
LAMB3
JEB: Australian shepherd
27
COL4A4
Renal failure - Samoyed, Cocker Spaniel
28
COL7A1
DEB in cattle, sheep, goats, dogs (Akita, central asian shepherd, Basset), cats, ostriches
29
Ulcerative nasal dermatosis
Bengal cats
30
Tightly adherent, greasy debris, erythema, and exudation that becomes chronic, severe in facial folds and secondary infection in cats.
Primary seborrhea of Persians and Himalayans
31
SLC39A4 (cows)
Bovine hereditary zinc deficiency
32
PLD4
Crusty Fleckvieh cattle (looks like bovine hereditary zinc deficiency but doesn't improve with zinc supplementation)
33
FOXN1
Birman; congenital hypotrichosis and short life expectancy
34
KRT14
EBS in the DSH
35
GDNF
Acral mutilation syndrome
36
HAS2
Shar Pei with dermal mucinosis and fever
37
MLPH
dilute coat color predisposing for CDA; macromelanosome unable to transfer normally
38
TNXB
Ehlers-Danlos syndrome mixed breed
39
ADAMTS2
Ehlers-Danlos syndrome, type 7 in Doberman
40
PLEC
Eurasier dog
41
UNC93B1
ECLE; GSP
42
FAM83H
Hereditary footpad hyperkeratosis and ichthyosiform dermatosis (and KCS) of CKCS
43
ASPRV1
Ichthyosis of GSD
44
KRT10
Norfolk Terrier Ichthyosis (epidermolytic)
45
TGM1
JRT Ichthyosis
46
PNPLA1
Golden Retriever Ichthyosis
47
NIPAL4
American Bulldog Ichthyosis
48
FATP4
Great Dane Ichthyosis
49
ASPRV1
Ichthyosis in GSD
50
ABHD5
Ichthyosis type 2 golden retriever
51
RSPO2
Improper coat in Portugese Water Dog
52
ADAMTSL2
Beagle; Ehlers Danlos
53
OCA2
German spitz with oculocutaneous albinism 2
54
SLC45A2
Oculocutaneous albinism 4 (risk for melanomas) in Doberman, bull mastiff, Lhasa Apso, Pekingenese, Pomeranian
55
MIFT
Absence of pigmentation with microopthalmia in Holstein cattle; autosomal dominant
56
MBTPS2
Brindle 1 haircoat (hypotrichosis) in Quarter Horse
57
KRT25 on SP6
Curly coat hypotrichosis in the horse
58
PPIB
Hereditary equine regional dermal asthenia ***cyclophilin B gene*****
59
What does the affected gene in HERDA code for?
Cyclophilin B
60
MYO5A
Lavendar Foal syndrome; Arabian also Dachshund
61
EDNRB
Lethal white foal syndrome, megacolon; American Paint (from double Ovaro breeding)
62
ST14 (horse)
Naked Foal Syndrome in Akhal-Teke
63
PLOD1 (horse)
Ehlers Danlos syndrome in Warmblood fragile foal syndrome
64
IKBKG
Incontinentia pigmenti in QH (X-linked dominant)
65
TRMP-1
congenital and stationary night blindness in Appaloosas
66
ITGB4 (sheep)
JEB Churra sheep
67
ADAMTS2 (sheep)
Ehler's Danlos
68
HR (sheep)
Hypotrichosis
69
MC1R / PMEL (cow)
Hypotrichosis with coat color diilution (rat-tail syndrome) - autosomal dominant
70
PLG
Ligneous membranitis in Scottish Terrier and Maltese
71
LYST
Chediak higashi in Persian cats
72
TYR OCA1B
Inherited strabismus and nystagmus in cats, partial albino. Acromelanism. Siamese.
73
Follicular lipidosis
Hair loss at mahogany points due to lipid accumulation in anagen hairs seen in Rottweilers
74
What can turn skin a reddish color?
Rifampin, B-carotene, clofazimine
75
BLOC
Cocoa coat color phenotype in French Bulldogs with Hermansky-Pudlak syndrome
76
AP3B1
Gray collie syndrome; cyclical neutropenia; mineralization of melanosome, failure of melanin synthesis
77
ITGB2
CLAD; Irish setter. Disrupts the b-2 subunit of integrin on the neutrophils. AR. Infections including bones.
78
STX17
Grey horse, autosomal DOMINANT, risk of melanoma
79
PMEL (dog)
Merle pattern (AKA SILV)
80
SILV
Merle pattern (AKA PMEL)
81
TYRP1
Oculocutaneous albinism. Hearing is okay.
82
AP3B1
Grey collie / cyclical neutropenia
83
MYO5a
Lavender foal syndrome (myson Va)
84
KIT or SF
Piebaldism - autosomal dominant!
85
MIFT to develop cochlea
Congenital sensorineural deafness (Dalmatians) lack of stria vascularis melanocytes
86
TYRP1
oculocutaneous albinism; doesn't have the enzyme to make the pigment. They can hear!
87
Canine leukocyte antigen (DLA) complex
VKH-like syndrome
88
KRT71
Hairless cats Located in IRS (hair growth)
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