Genes, AISBD, Pemphigoid Antibody Targets, Hair Flashcards by Elana Vlodaver

Gene American Bulldog ichthyosis

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

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Mode of inheritance American bulldog ichthyosis

Autosomal recessive

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Age of onset American bulldog ichthyosis

Before weaning

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Clinical signs American bulldog ichthyosis

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

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Genes (2!) golden retriever ichthyosis

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

2) ABHD5

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Mode of inheritance golden retriever ichthyosis

Autosomal recessive

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Age of onset golden retriever ichthyosis

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

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Clinical signs golden retriever ichthyosis

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

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Mode of inheritance jack russell terrier ichthyosis

Autosomal recessive

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Gene Jack Russel Terrier ichthyosis

TGM1
(Transglutaminase 1)
Formation of cornified envelope

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Age of onset jack russel terrier ichthyosis

birth

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Clinical signs jack russell terrier ichthyosis

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

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Gene Great Dane ichthyosis

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

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Mode of inheritance Great Dane ichthyosis

Autosomal recessive

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Age of onset Great Dane ichthyosis

Birth

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Clinical signs Great Dane ichthyosis

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

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Gene Cavalier King Charles Spaniel ichthyosis

FAM83H
(Family With Sequence Similarity 83 Member H)

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Mode of inheritance CKCS ichthyosis

Autosomal recessive

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Age of onset CKCS ichthyosis

Birth

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Clinical signs CKCS ichthyosis

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

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Gene German Shepherd Dog ichthyosis

ASPRV
(Aspartic Peptidase Retroviral)
Profilaggrin-filaggrin processing

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Mode of inheritance GSD Ichthyosis

de novo

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Age of onset GSD ichthyosis

birth

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Clinical signs GSD ichthyosis

Generalized scaling

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

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

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

X-linked semidominant

Age of onset labrador retreiver follicular parakeratosis

Puppy

Clinical signs labrador retreiver follicular parakeratosis

-Linear hyperkeratotic plaques -Follicular fronds -Pawpad hyperkeratosis

Gene chihuahua disorder of cornification

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

Mode of inheritance chihuahua Keratinocytic Nevi

X-linked semidominant

Age of onset chihuahua Keratinocytic Nevi

puppy

Clinical signs chihuahua disorder of cornification

Linear verrucous nevi

Darier disease gene

ATP2A2

Hailey Hailey disease gene

ATP2C1

Color dilution alopecia gene

MLPH (melanophilin)

Epidermolysis bullosa simplex in Fresian cows

Keratin 5, Keratin 14

Epidermolysis bullosa simplex in Eurasier (dog)

PLEC Plectin deficiency

Autoantibody target in paraneoplastic pemphigus

DSG3 + Plakins (ie: BPAG1, periplakin)

Epidermolysis bullosa acquisita

NC1 region of collagen 7 (COL7A1)

EBA breed

Great Dane

EBA lesion distribution

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

MMP breed

GSD

MMP age, sex

middle age (6 yo), none

EBA age, sex

young, males

MMP lesion distribution

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

MMP major autoantigen, minor autoantigen

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

Bullous pemphigoid age, sex

middle age (5), none

Bullous pemphigoid breed

None

Bullous pemphigoid major autoantigen, minor autoantigen

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

Bullous pemphigoid lesion distribution

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

Junctional EBA breed

None

Junctional EBA age, sex

None, none

Junctional EBA lesion distribution

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

Junctional EBA Major autoantigen

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

Mixed AISBD breed

none

Mixed AISBD age, sex

None, None

Mixed AISBD lesion distribution

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

Mixed AISBD major autoantigens

Collagen VII, Laminin 332

Linear IgA Disease breed

None

Linear IgA Disease age, sex

none, none

Linear IgA Disease lesion distribution

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

Bullous SLE breed

None

Linear IgA Disease major autoantibodies

Collagen XVII

Bullous SLE age, sex

none, none

Bullous SLE lesion distribution

haired skin, footpads, mucosae, MC junctions

Bullous SLE major autoantigen

NC1 domain of Collagen VII

What AISBDs have been reported in cats?

MMP, BP

What AISBDs have been reported in pigs and horses?

Bullous pemphigoid

Which AISBD primarily affects mucous membranes?

MMP

Which AISBDs primarily affects haired skin?

BP, mixed AISBD

Which AISBDs affect both haired skin and mucosae commonly?

EBA, JEB

Pemphigus foliaceus target autoantigen in dogs

DSC1

Pemphigus vulgaris target autoantigens in dogs and horses

DSG3 DSG1 in mucocutaneous forms

Pemphigus vegetans target autoantigen

DSG1

MMP: indirect immunofluorescence w/salt split BMZ staining

Mixed

JEBA: indirect immunofluorescence w/salt split BMZ staining

Floor (Mixed)

BP: indirect immunofluorescence w/salt split BMZ staining

Epidermal

LAD: indirect immunofluorescence w/salt split BMZ staining

Epidermal

PG: indirect immunofluorescence w/salt split BMZ staining

Epidermal (Col17)

EBA: indirect immunofluorescence w/salt split BMZ staining

Dermal

JEBA: indirect immunofluorescence w/salt split BMZ staining

Dermal (Mixed)

Mixed AISBD: indirect immunofluorescence w/salt split BMZ staining

Dermal

Bullous SLE: indirect immunofluorescence w/salt split BMZ staining

Dermal

BP: anti-collagen IV IHC or PAS stain

Dermal

PG: anti-collagen IV IHC or PAS stain

Dermal

JEBA: anti-collagen IV IHC or PAS stain

Dermal

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

Dermal

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

Mixed

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

Epidermal

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

Epidermal

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

COL7A1 Collagen VII

EB Simplex Gene in quarter horses

Plectin

Junctional EB gene in Charolais calves

α6/β4 integrin

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

LAMA3 Laminin 332

AISBDs with target being Laminin 332

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

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

PKP1 Plakophilin-1

Canine Junctional EB breed

german shorthair pointers

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

FoxI3 Lethal if homozygous Dentition issues

Chinese Crested Dog mode of inheritance

autosomal semi-dominant

American Hairless Terrier congenital alopecia gene

SGK3

American Hairless terrier congenital alopecia mode of inheritance

autosomal recessive

Anhidrotic Ectodermal dysplasia gene

EDA

Anhidrotic Ectodermal dysplasia mode of inheritance

X-linked, rarely affects females

Naked Foal Syndrome gene, breed, MOI

ST14, Akhal-Teke horse, autosomal recessive

Birman cat congenital hypotrichosis gene

FoxN1

Sphynx cat, Hereford cattle IRS abnormality gene

KRT 71

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

DSG4

Epidermolytic ichthyosis gene

Keratin 10

Epidermolytic ichthyosis breed

Norfolk terrier

Epidermolytic ichthyosis mode of inheritance

Autosomal recessive

Gene hereditary nasal hyperparakeratosis

SUV39H2

Breed hereditary nasal hyperparakeratosis

Labrador retrievers, greyhounds

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

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

Familial Paw Pad Hyperkeratosis breeds

Dogue de Bordeaux, Irish terrier, Kromfohrlander

Lethal acrodermatitis gene

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

Lethal acrodermatitis breed

bull terriers

Bovine hereditary zinc deficiency lethal trait A46 gene

SLC39A4 (Great dane ichthyosis is SLC27A4)

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

PLD4 Phospholipase D Euthanize-- do not respond to Zinc supplement

Shar Pei ichthyosis gene

KRT1

Shar Pei ichthyosis mode of inheritance

Autosomal DOMINANT

GSD ichthyosis gene

ASPRV1

GSD ichthyosis mode of inheritance

Autosomal DOMINANT

Rottweiler footpad hyperkeratosis gene

DSG1

Rottweiler footpad hyperkeratosis mode of inheritance

Autosomal recessive/semi-dominant

Acral Mutilation Syndrome gene

GDNF

Acral Mutilation Syndrome breeds

Hunting dogs

Acral Mutilation Syndrome mode of inheritance

autosomal recessive

Darier disease breed

Irish Terrier (also get footpad hyperkeratosis FAM83G)

Darier disease mode of inheritance

Autosomal DOMINANT

Exfoliative Cutaneous Lupus Erythematosus gene

UNC93B1

Exfoliative Cutaneous Lupus Erythematosus breed

German Shorthair Pointer, hunting breeds

Exfoliative Cutaneous Lupus Erythematosus mode of inheritance

autosomal recessive

Dermoid sinus genes

FGF3, FGF4, FGF19

Dermoid sinus breeds

Rhodesian ridgeback, Thai ridgeback

Dermoid sinus mode of inheritance

autosomal recessive

Dilute hair coat with NEUROLOGIC defects gene

MYO5A

Dilute hair coat with NEUROLOGIC defects breed

Dachshund

Dilute hair coat with NEUROLOGIC defects mode of inheritance

Autosomal recessive

Anhidrotic ectodermal dysplasia breeds

Dachshunds, GSD, mixed breeds

Type VII Ehlers Danlos/ Dermatosparaxis gene

ADAMTS2

Type VII Ehlers Danlos/ Dermatosparaxis breed

Doberman

Type VII Ehlers Danlos/ Dermatosparaxis mode of inheritance

Autosomal recessive

Type I Ehlers Danlos/ Dermatosparaxis gene

COL5A1

Type I Ehlers Danlos/ Dermatosparaxis breed

Labrador retrievers

Type I Ehlers Danlos/ Dermatosparaxis mode of inheritance

Autosomal DOMINANT

Hyaluronanosis gene

HAS2

Hyaluronanosis breed

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

Ligneous Membranitis gene

PLG

Ligneous Membranitis breed

Scottish Terrier

Ligneous Membranitis mode of inheritance

autosomal recessive

Renal cystadenocarcinoma + nodular dermatofibrosis breed

German Shepherd

Renal cystadenocarcinoma + nodular dermatofibrosis gene

FLCN

Renal cystadenocarcinoma + nodular dermatofibrosis mode of inheritance

Autosomal DOMINANT

Oculocutaneous albinism type 2 (dobie) gene

SLC45A2

Oculocutaneous albinism mode of inheritance

autosomal recessive

Oculocutaneous albinism type 2 breed

Doberman

Musladin-Lueke Syndrome/ Geleophysic Dysplasia gene

ADAMTSL2

Musladin-Lueke Syndrome/ Geleophysic Dysplasia breed

Beagles

Musladin-Lueke Syndrome/ Geleophysic Dysplasia mode of inheritance

Autosomal recessive

Gene associated with canine atopic dermatitis severity and TNFa expression

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

Gene associated with atopic dermatitis in Golden Retreivers

FLG (filaggrin) RAB3C

Gene associated with atopic dermatitis in GSD

Plakophilin 2 (PKP2)

Gene associated with atopic dermatitis in WHWT

PTPN22

Chromosome associated with high IgE levels in dogs

CFA5 in labs, CFA35 in WHWT

Autoimmune AISBDs list:

BP, MMP, LAD, EBA, BSLE

Congenital AISBDs list:

EB Simplex, Junctional EB, Dystrophic EB

Shar Pei mucinosis

HAS2

Lethal lavendar foal gene

Myosin 5a

Feline acromelanism gene

Tyrosinase

Pituitary Dwarfism gene

LHX3

Piebaldism gene

c-kit / CD117, steel factor. Autosomal dominant

Chediak-Higashi syndrome gene

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

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

Endothelin Receptor B Others (MITF, PAX3, SOX10)

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

LAMC2 Laminin 332

Canine cyclic hematopoiesis (Gray collie syndrome) gene

Adaptor protein complex 3 (APB3)

Gene responsible for nonrandom, symmetrical distribution of hair follicles

HOX

Gene responsible for hair length

FGF-5

Gene responsible for hair curl

Keratin-71

Gene responsible for hair size/texture

R-spondin 2

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

Wnt/ β-catenin pathway

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

Shh

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

BMP (member of TGF-β family)

BMP antagonist, anagen inducer, increased Lef-1 expression

Noggin

Catagen inducer in mature hair follicle

TGF-α/ EGF

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

FGF5

Promotes hair follicle development at placode level

EDA/EDAR X-linked ectodermal dysplasia!

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

Pemphigus vulgaris Paraneoplastic pemphigus

Which animals have been found to have pemphigus foliaceus?

Dog Cat Goat Horse

Which animals have been found to have pemphigus vulgaris?

Dog, Cat

Which 2 animals have pustular dermatophytosis? (with AKs)

Dog, horse

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

True

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

Cyclophilin B/ peptidylprolyl isomerase B (PPIB)

LAD autoantigen target

Collagen 17