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EB Flashcards

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1
Q

What is the gene and dominance for dystrophic EB? And level of blisters?

A

Col7A1 (collagen 7)
Dominant dystropic AD
Recessive dystrophic AR
Below lamina densa of basement membrane

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2
Q

What is the gene and dominance for Junctional EB?

A

LAMA3 (Protein - laminen 332)
LAMB3
LAMC2
COL17A1 (collagen 17 - bp180)
AR
Hemidesmosones absent

Junctional EB w pyloric atresia
ITGA6
ITGA4
(a6b4Integrin)

Within lamina densa of basement membrane

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3
Q

Bpk

A
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4
Q

What is the gene and dominance for EB simplex?

A

KRT5 and KRT14 (keratin 5 and 14)
Autosomal dominant except for muscular dystrophy subtype - AR

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5
Q

What is the gene and dominance for Junctional EB?

A

LAMA3 (Protein - laminen 332)
LAMB3
LAMC2
COL17A1 (collagen 17 - bp180)
AR
Hemidesmosones absent

Junctional EB w pyloric atresia
ITGA6
ITGA4
(a6b4Integrin)

Within lamina densa of basement membrane

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6
Q

What is the gene and dominance for dystrophic EB? And level of blisters?

A

Col7A1 (collagen 7)
Dominant dystropic AD
Recessive dystrophic AR
Below lamina densa of basement membrane

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