Genes, AISBD, Pemphigoid Antibody Targets, Hair Flashcards
Gene American Bulldog ichthyosis
NIPAL-4
(Nipa-Like Domain-Containing 4)
Co-factor for FATP4 (Fatty acid transporter 4)
Mode of inheritance American bulldog ichthyosis
Autosomal recessive
Age of onset American bulldog ichthyosis
Before weaning
Clinical signs American bulldog ichthyosis
-Generalized white scale
-Erythema + adherent scale on ventrum
-Malassezia overgrowth –> pruritus
Genes (2!) golden retriever ichthyosis
1) PNPLA-1
(Patatin-like phospholipase domain-containing protein)
Acetyltransferase
Needed for CLE formation
2) ABHD5
Mode of inheritance golden retriever ichthyosis
Autosomal recessive
Age of onset golden retriever ichthyosis
<1 year; can manifest in adults. May be transient in puppies
Clinical signs golden retriever ichthyosis
-Generalized large, white/grey scale
-Ventral hyperpigmentation
-Uncommon 2’ pyoderma, Malassezia
Mode of inheritance jack russell terrier ichthyosis
Autosomal recessive
Gene Jack Russel Terrier ichthyosis
TGM1
(Transglutaminase 1)
Formation of cornified envelope
Age of onset jack russel terrier ichthyosis
birth
Clinical signs jack russell terrier ichthyosis
-Severe generalized adherent yellow/brown scale
-2’ Malassezia overgrowth
Gene Great Dane ichthyosis
SLC27A4
(Solute Carrier Family 27 Member 4)
Encodes FATP4 synthesis of long chain fatty acids
Mode of inheritance Great Dane ichthyosis
Autosomal recessive
Age of onset Great Dane ichthyosis
Birth
Clinical signs Great Dane ichthyosis
-Greasy scale, wrinkling of face and extremities
-Nonviable into adulthood
Gene Cavalier King Charles Spaniel ichthyosis
FAM83H
(Family With Sequence Similarity 83 Member H)
Mode of inheritance CKCS ichthyosis
Autosomal recessive
Age of onset CKCS ichthyosis
Birth
Clinical signs CKCS ichthyosis
-KCS
-Scaling, abdominal pigmentation
-Curly pelage
-Pawpad hyperkeratosis
-Nail dystrophy
Gene German Shepherd Dog ichthyosis
ASPRV
(Aspartic Peptidase Retroviral)
Profilaggrin-filaggrin processing
Mode of inheritance GSD Ichthyosis
de novo
Age of onset GSD ichthyosis
birth
Clinical signs GSD ichthyosis
Generalized scaling
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
