Chapter 3: Genodermatoses Ichthyoses

Front 1

Ichthyosis Vulgaris is AD and caused by decreased conversion of....what that leads to a diminished granular layer?

Back 1

Decreased conversion of profilaggrin to filaggrin

Front 2

What disease is caused by a mutation in the Filaggrin gene?

Back 2

Ichthyosis Vulgaris

Front 3

Decreased conversion of profilaggrin to filaggrin is caused by a mutation in what gene?

Back 3

Filaggrin gene

Front 4

This AD disorder causes scales on extensors with sparing of the flexures starting at puberty, atopic diathesis and hyper linear palms.

Back 4

Ichthyosis Vulgaris

Front 5

X-linked Ichthyosis is caused by a mutation in arylsulfatase C with is encoded by what gene?

Back 5

Steroid Sulfatase Gene

Front 6

X-linked Ichthyosis is X-linked recessive or dominant?

Back 6

X-linked recessive

Front 7

Brown scale everywhere except the palms, soles and flexures with associated comma-shaped corneal opacities, failure of labor progression and cryptorchidism is what X-linked recessive dz?

Back 7

X-linked ichthyosis

Front 8

X-linked Ichthyosis is characterized by what 3 unique findings?

Back 8

1) Comma-shaped corneal opacities
2) Failure of labor progression
3) Cryptorchidism

Front 9

What disease leads to a Collodion baby at birth, with large thick plates of scale on the flexures, ectropion and eclabium?

Back 9

Lamellar Ichthyosis

Front 10

This AR disease is caused by a mutation on Transglutaminase 1

Back 10

Lamellar Ichthyosis Type 1

Front 11

Which disease is caused by a mutation in ATP binding Cassette A12 gene (ABC-A12)?

Back 11

Lamellar Ichthyosis Type 2

Front 12

This AR disorder is caused by mutations in one of 3 genes?
1) Transglutaminase 1 gene
2) 12R Lipoxygenase gene (ALOX 12B)
3) Lipoxygenase 3 gene (ALOX E3)

Back 12

Non-Bullous Congenital Ichthyosiform Erythroderma

Front 13

This disease leads to a Collodion baby at birth with subsequent generalized mild erythroderma with fine white scale.

Back 13

Non-Bullous Congenital Ichthyosiform Erythroderma

Front 14

Sjogren-Larsson Syndrome is an AR disorder caused by a deficiency of what?

Back 14

Fatty Aldehyde Oxidoreductase/Alcohol Dehydrogenase

Front 15

This syndrome leads to ichthyosis, spastic ditetraplegia, MRDD, epilepsy, glistening dot retinal pigmentation, dental enamel dysplasia.

Back 15

Sjogren-Larsson Syndrome

Front 16

This syndrome is caused by a deficiency in phytanoyl coenzyme A hydroxylase deficiency caused by PAHX gene, peroxin 7 (PEX7 gene), or PHYH gene.

Back 16

Refusum Syndrome

Front 17

Mild ichthyosis, cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa (salt n' peppa), and deafness constitutes which AR syndrome?

Back 17

Refusum Syndrome

Front 18

What syndrome is treated with a diet low in green vegetables, dairy and ruminant fats?

Back 18

Refusum Syndrome

Front 19

What eye findings are seen with Refusum syndrome?

Back 19

Retinitis pigmentosa (salt n' peppa)

Front 20

Chondrodysplasia Punctata (Conradi-Hunermann syndrome) is 3 forms of inheritance caused by what 3 genes?

Back 20

1) X-linked Recessive = Arylsulfatase E gene
2) X-linked Dominant =EBP gene
3) AR = PEX-7

Front 21

This peroxisomal biogenesis disorder leads to ichthyosiform erythroderma in the lines of Blaschko, follicular atrophoderma, stippled epiphyses.

Back 21

Chondrodysplasia punctata (Conradi-Hunermann)

Front 22

CHILD syndrome has what type of inheritance?

Back 22

X-linked Dominant

Front 23

CHILD syndrome is lethal in females or males?

Back 23

Males

Front 24

NSDHL gene (NADPH steroid dehydrogenase-like protein) mutations cause what syndrome?

Back 24

CHILD syndrome

Front 25

This perioxisomal biogenesis disorder leads to unilateral ichthyosiform erythroderma, limb/visceral hypoplasia, and stippled epiphyses.

Back 25

CHILD Syndrome

Front 26

Netherton Syndrome is AR and caused by what gene mutation?

Back 26

SPINK 5 gene

Front 27

What syndrome?
1) Ichthyosis Linearis Cirumflexa (double-edged scale)
2) Trichorrhexis invaginata (Bamboo, ball and socket hair)
3) Atopic Dermatitis from food allergy

Back 27

Netherton Syndrome

Front 28

Darier's Disease (keratosis Follicularis) is an AD disease caused by mutation in what gene?

Back 28

Calcium ATPase 2A2 (SERCA2)

Front 29

This disease is worsened by lithium.

Back 29

Darier's disease

Front 30

What disease?
1) Hyperkeratotic papules in seborrheic areas
2) Acrokeratosis verruciformis of Hopf
3) Palmar keratoses and pits
4) Red-white longitudinal nail bands
5) V-shaped distal nail nicks
6) Cobblestoning of oral and rectal mucosa

Back 30

Darier's Disease

Front 31

KID syndrome is AD and caused by a mutation in what?

Back 31

Connexin 26

Front 32

What does KID stand for in KID syndrome?

Back 32

Keratitis
Ichthyosis
Deafness

Front 33

What syndrome?
1) Keratitis-Ichthyosis-Deafness
2) Sporadic inheritance
3) Generalized mild hyperkeratosis
4) Erythematous
5) Keratotic plaques
6) PPK
7) Non-progressive sensorineural deafness
8) Progressive bilateral keratitis with secondary blindness

Back 33

KID syndrome

Front 34

Harlequin fetus is AR/sporadic and caused by what gene mutation?

Back 34

ABCA12

Front 35

Lage diamond-shaped plaques of scale, low birth weight, ectropion, eclabium and high death rate = what disease?

Back 35

Harlequin Fetus

Front 36

Chanarin-Dorfman Syndrome (Neutral Lipid Storage disease with ichthyosis) is caused by a mutation in what gene?

Back 36

ABHD5

Front 37

Patients with this syndrome cannot break down TG's and these fats accumulate in the skin, liver, muscles, intestines, eyes and ears.

Back 37

Chanarin-Dorfman Syndrome (Neutral Lipid Storage disease with ichthyosis)

Front 38

Ichthyosis at birth with hepatomegaly, cataracts, ataxia, hearing loss, short stature, myopathy, nystagmus, and mild intellectual disability with mutation in ABHD5 gene

Back 38

Chanarin-Dorfman Syndrome (Neutral Lipid Storage disease with ichthyosis)