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Med School: Semester 2 > Derm1 > Flashcards

Derm1 Flashcards

1
Q

Ichthyosis Vulgaris

A

AD

defect in filaggrin

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2
Q

Lamellar Ichthyosis

A

AR

Deficient Transglutaminase I

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3
Q

Epidermolytic Hyperkeratosis

A

AD
K1/10 mutation (spinous layer)
Neonates: blisters, erythema (blistery vagina)
Adults: hyperkeratosis

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4
Q

Epidermolysis Bullosa Simplex

A

AD
K5/14 (Basal Layer)

Weber Cockyane: palmoplantar bullae, painful calluses

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5
Q

Junctional Epidermolysis Bullosa Simplex

A

Herlitz: baby with no face, fatal by 3-4, teeth involvement

Non-Herlitz: bullae on extremities, missense mutation

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6
Q

What do all the pemphigoids affect (bullous, gestational, and cicatricial)?

A

BPAG1/2

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Med School: Semester 2 (37 decks)

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