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38 Cards in this Set
- Front
- Back
Ichthyosis Vulgaris is AD and caused by decreased conversion of....what that leads to a diminished granular layer?
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Decreased conversion of profilaggrin to filaggrin
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What disease is caused by a mutation in the Filaggrin gene?
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Ichthyosis Vulgaris
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Decreased conversion of profilaggrin to filaggrin is caused by a mutation in what gene?
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Filaggrin gene
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This AD disorder causes scales on extensors with sparing of the flexures starting at puberty, atopic diathesis and hyper linear palms.
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Ichthyosis Vulgaris
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X-linked Ichthyosis is caused by a mutation in arylsulfatase C with is encoded by what gene?
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Steroid Sulfatase Gene
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X-linked Ichthyosis is X-linked recessive or dominant?
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X-linked recessive
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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?
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X-linked ichthyosis
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X-linked Ichthyosis is characterized by what 3 unique findings?
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1) Comma-shaped corneal opacities
2) Failure of labor progression 3) Cryptorchidism |
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What disease leads to a Collodion baby at birth, with large thick plates of scale on the flexures, ectropion and eclabium?
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Lamellar Ichthyosis
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This AR disease is caused by a mutation on Transglutaminase 1
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Lamellar Ichthyosis Type 1
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Which disease is caused by a mutation in ATP binding Cassette A12 gene (ABC-A12)?
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Lamellar Ichthyosis Type 2
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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) |
Non-Bullous Congenital Ichthyosiform Erythroderma
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This disease leads to a Collodion baby at birth with subsequent generalized mild erythroderma with fine white scale.
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Non-Bullous Congenital Ichthyosiform Erythroderma
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Sjogren-Larsson Syndrome is an AR disorder caused by a deficiency of what?
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Fatty Aldehyde Oxidoreductase/Alcohol Dehydrogenase
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This syndrome leads to ichthyosis, spastic ditetraplegia, MRDD, epilepsy, glistening dot retinal pigmentation, dental enamel dysplasia.
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Sjogren-Larsson Syndrome
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This syndrome is caused by a deficiency in phytanoyl coenzyme A hydroxylase deficiency caused by PAHX gene, peroxin 7 (PEX7 gene), or PHYH gene.
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Refusum Syndrome
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Mild ichthyosis, cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa (salt n' peppa), and deafness constitutes which AR syndrome?
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Refusum Syndrome
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What syndrome is treated with a diet low in green vegetables, dairy and ruminant fats?
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Refusum Syndrome
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What eye findings are seen with Refusum syndrome?
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Retinitis pigmentosa (salt n' peppa)
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Chondrodysplasia Punctata (Conradi-Hunermann syndrome) is 3 forms of inheritance caused by what 3 genes?
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1) X-linked Recessive = Arylsulfatase E gene
2) X-linked Dominant =EBP gene 3) AR = PEX-7 |
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This peroxisomal biogenesis disorder leads to ichthyosiform erythroderma in the lines of Blaschko, follicular atrophoderma, stippled epiphyses.
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Chondrodysplasia punctata (Conradi-Hunermann)
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CHILD syndrome has what type of inheritance?
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X-linked Dominant
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CHILD syndrome is lethal in females or males?
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Males
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NSDHL gene (NADPH steroid dehydrogenase-like protein) mutations cause what syndrome?
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CHILD syndrome
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This perioxisomal biogenesis disorder leads to unilateral ichthyosiform erythroderma, limb/visceral hypoplasia, and stippled epiphyses.
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CHILD Syndrome
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Netherton Syndrome is AR and caused by what gene mutation?
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SPINK 5 gene
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What syndrome?
1) Ichthyosis Linearis Cirumflexa (double-edged scale) 2) Trichorrhexis invaginata (Bamboo, ball and socket hair) 3) Atopic Dermatitis from food allergy |
Netherton Syndrome
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Darier's Disease (keratosis Follicularis) is an AD disease caused by mutation in what gene?
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Calcium ATPase 2A2 (SERCA2)
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This disease is worsened by lithium.
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Darier's disease
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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 |
Darier's Disease
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KID syndrome is AD and caused by a mutation in what?
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Connexin 26
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What does KID stand for in KID syndrome?
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Keratitis
Ichthyosis Deafness |
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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 |
KID syndrome
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Harlequin fetus is AR/sporadic and caused by what gene mutation?
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ABCA12
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Lage diamond-shaped plaques of scale, low birth weight, ectropion, eclabium and high death rate = what disease?
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Harlequin Fetus
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Chanarin-Dorfman Syndrome (Neutral Lipid Storage disease with ichthyosis) is caused by a mutation in what gene?
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ABHD5
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Patients with this syndrome cannot break down TG's and these fats accumulate in the skin, liver, muscles, intestines, eyes and ears.
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Chanarin-Dorfman Syndrome (Neutral Lipid Storage disease with ichthyosis)
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Ichthyosis at birth with hepatomegaly, cataracts, ataxia, hearing loss, short stature, myopathy, nystagmus, and mild intellectual disability with mutation in ABHD5 gene
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Chanarin-Dorfman Syndrome (Neutral Lipid Storage disease with ichthyosis)
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