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Vet Derm Review > Croatia - Linder - Cornification > Flashcards

Croatia - Linder - Cornification Flashcards

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Dermatology Board Prep flashcards
1
Q

What are the three key lipids present in the lipid envelope?

A

ceramides, cholesterol, fatty acids

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2
Q

A mutation in the NSDHL gene results in what clinical disease? Why?

A

X-linked Cornification disorder, Blaschko’s lines; gene encodes for 3 beta-hydroxysteroid dehydrogenase and mutation interrupts cholesterol synthesis and leads to toxic metabolites

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3
Q

What are some of the filaggrin degradation products?

A

histidine, pyrrolidone-5-carboxylic acid, urocanic acid

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4
Q

What is the function of corneodesmosin?

A

stabilizes desmosomes and increases their flexibility & elasticity through glycine-loop properties

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5
Q

What changes in the conditions occur from the lower stratum corneum to the upper SC to allow desquamation to occur (pH, water content, Ca2+ content)?

A

neutral pH –> acidic pH; High H20 –> low H20; high Ca2+ –> low Ca2+; formation of natural moisturizing factors in upper SC

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6
Q

A mutation in what gene causes an autosomal recessive ichthyosis in Norfolk terriers?

A

KRT10 (keratin 10)

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7
Q

What does the Nile red stain highlight?

A

lipids

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8
Q

What are the clinical features of American Bulldog ichthyosis?

A

ventral erythema, brown/tan scale, wrinkled skin, yeast overgrowth, otitis, intertrigo, pododermatitis, pruritus

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9
Q

T/F: There are no cell junction related ichthyoses reported in animals.

A

True– though several reported in people

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10
Q

Palmoplantar keratoderma in Dogues de Bordeaux is caused by a mutation in what gene?

A

KRT16 (keratin 16)

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11
Q

Mutations in genes that encode for what structures result in epidermolytic ichthyosis?

A

keratins

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12
Q

A mutation in the ASPRV1 gene affects what protein and results in what clinical disease?

A

retroviral-like aspartic protease 1 (AKA SASPase); GSD ichthyosis

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13
Q

What are the main proteins found in tight junctions?

A

claudins

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14
Q

What does a mutation in the ST14 gene affect (protein and function)?

A

matriptase (serine protease); affects filaggrin processing and corneodesmosome breakdown

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15
Q

What creates the stratum disjunctum seen on histopathology?

A

breakdown of corneodesmosomes

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16
Q

A mutation in the gene that codes for fatty acid transport protein 4 (FATP4) results in what disease?

A

Great Dane ichthyosis

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17
Q

What are the clinical features of the KCS/Ichthyosiform Dermatosis of CKCS?

A

KCS, curly coat, erosions, sloughing claws and hyperkeratosis

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18
Q

A mutation in the ST14 gene affects what protein and results in what clinical disease?

A

matriptase (serine protease); Akhal-Teke horse naked foal syndrome

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19
Q

Tight junctions are cell-cell junctions that seal the periphery of keratinocytes together in what layer of the epidermis?

A

stratum granulosum

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20
Q

What does patatin-like phospholipase-1 (PNPLA-1) code for? What disease results from its mutation?

A

acylceramide, which has a role in glycerophospholpid metabolism & cutaneous barrier function; mutation results in Golden Retriever ichthyosis

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21
Q

What are clinical features of the epidermolytic hyperkeratosis of Norfolk terriers?

A

mild, hyperpigmented scaling; skin fragility, non-erythematous

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22
Q

What factors help to lower the pH during desquamation of the SC?

A

sodium/hydrogen antiporter; breakdown of phospholipids into free fatty acids; breakdown of filaggrin to amino acids/histidine/NMF; exogenous substances (sebum, microflora)

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23
Q

What are the components of ceramides?

A

fatty acids + sphingoid bases

24
Q

Ichthyosis fetalis in Chianina cattle is due to a mutation in what gene? To what disease is this similar in people?

A

ABCA12, harlequin ichthyosis

25
Q

Most autosomal recessive congenital ichthyoses result from a disorder of the formation of what?

A

cornified lipid envelope

26
Q

What protein is reponsible for compaction of keratin intermediate filament network in the process of cornification?

A

filaggrin

27
Q

How does the mutation in lamellar ichthyosis of Jack Russell Terriers affect corneocyte stability?

A

lack transglutaminase-1 activity => no cross-linking of the cornified envelope => corneocyte fragility

28
Q

What are the two key components of successful treatment of nuclear interaction partner of ALK-like domain containing 4 (NIPAL4) mutant affected dogs?

A

1) Block altered lipid pathway and cytotoxicity, 2) Replace altered/deficient lipids

29
Q

What does nuclear interaction partner of ALK-like domain containing 4 (NIPAL4) code for? What disease results from its mutation?

A

ichthyin; American bulldog ichthyosis

30
Q

What are the clinical features of ichthyosis fetalis?

A

still-born or death within a few days; microtia and eversion of the skin of the lips & eyelids

31
Q

_____ is an essential fatty acid in the diet that is required for cornified lipid envelope formation and function.

A

linoleic acid

32
Q

What are the clinical features of the lamellar ichthyosis of Jack Russell Terriers?

A

severe phenotype; large, paper-like, tan-white scale; often entire body, including ear canals; secondary yeast/bacterial infections; require significant supportive care

33
Q

A mutation in what gene causes an autosomal recessive ichthyosis in Jack Russell terriers?

A

TGM1 gene (transglutaminase-1)

34
Q

What is the function of ABCA12 gene?

A

encodes for an ATP-binding cassette transporter that has a major role in transportation of lipids in the epidermis responsible for cholesterol efflux from keratinocytes

35
Q

What is the function of tight junctions?

A

forms a barrier to electrolyte and solute movements in the upper epidermis (helps to limit transepidermal water loss)

36
Q

Great Dane ichthyosis results from a mutation in what gene?

A

SLC27A4 that affects the fatty acid transprot protein 4 (FATP4)

37
Q

What are the histologic features of hereditary nasal parakeratosis?

A

parakeratotic hyperkeratosis, serum lakes, keratinocyte vacuolation, epidermal hyperplasia, mild inflammation

38
Q

Hereditary nasal parakeratosis in Labs is attributed to a mutation in what gene?

A

SUV39H2

39
Q

T/F: With the nuclear interaction partner of ALK-like domain containing 4 (NIPAL4) mutation, the cornified lipid envelope is absent.

A

True & lipid envelop is abnormally structured, the cornified envelop is thinner, reduced lamellar bodies

40
Q

What are some of the proteins in the cornified envelope?

A

envoplakin, periplakin, loricrin, involucrin, filaggrin

41
Q

What is the function of the cornified lipid envelope?

A

seals the lipid envelope to the corneocyte surface

42
Q

What are the clinical features of Great Dane ichthyosis?

A

marked skin wrinkles (head, legs), severe fine white-yellow scaling, greasy skin surface, axillary and inguinal areas dry and leathery; other developmental defects - hydronephrosis, interstitial pneumonia, auditory canal abnormalities

43
Q

What does the NSDHL gene encode for?

A

3 beta-hydroxysteroid dehydrogenase, involved in cholesterol metabolism

44
Q

What does a mutation in the ASPRV1 gene affect (protein and function)?

A

retroviral-like aspartic protease 1 (AKA SASPase); affects processing of profilaggrin to filaggrin

45
Q

A mutation in what gene causes lethal acrodermatitis of Bull Terriers?

A

MKLN1 (muskelin-1)

46
Q

What keratins are present in the stratum granulosum?

A

KRT1, KRT2, KRT10

47
Q

Mutation in the ABCA12 gene results in what disease? In what specie(s)?

A

Ichthyosis fetalis (harlequin ichthyosis), cattle, humans

48
Q

What is the function of transglutaminases in the cornified envelope?

A

cross-link keratin intermediate filaments, cornified envelope proteins and adhesion complexes

49
Q

A mutation in what gene causes an autosomal recessive, congenital keratoconjunctivitis sicca and ichthyosiform dermatitis in Cavalier King Charles Spaniels?

A

FAM83H

50
Q

What is the function of ichthyin?

A

magnesium transporter for fatty acid transport protein; alters FFA coenzyme esterification

51
Q

What is present in corneocytes below the plasma membrane that stabilizes the cell periphery?

A

Cornified envelope

52
Q

What is the mutation in American Bulldog ichthyosis?

A

nuclear interaction partner of ALK-like domain containing 4 (NIPAL4)

53
Q

Mutations in genes that encode for what structure(s) result in non-epidermolytic ichthyosis?

A

lipids, non-keratin proteins, desquamation

54
Q

How are essential fatty acids and cholesterol delivered to the corneocyte?

A

transport pumps

55
Q

What is the mutation in Golden retriever ichthyosis?

A

patatin-like phospholipase-1 (PNPLA-1)

56
Q

What protein adheres the corneodesmosome to the cornified envelope? Where does the protein come from?

A

corneodesmosin; lamellar bodies

57
Q

What are lamellar bodies and what is their function?

A

secretory vesicles that deliver stacks of lipids and proteins (enzymes, inhibitors) to the external surface of the developing corneocyte –> forms the lipid envelope

Vet Derm Review (44 decks)

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