Genodermatoses Flashcards

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1
Q

signs/symptoms of Tuberose Sclerosis

A
Periungual fibromata 
Longitudinal ridging
infantile seizures
ash-leaf macule
facial angiofibromas
bone cysts
enamel pitting
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2
Q

what are ash leaf macules

A

depigmented macules

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3
Q

case - Born at term after normal pregnancy. 24 hours later: widespread blistering and loss of skin. Progressed to extensive skin loss occurring with any movement or handling of the baby

A

Epidermolysis Bullosa (EB)

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4
Q

what are the 3 types of Epidermolysis Bullosa (EB)

A

simplex
junctional
dystrophic

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5
Q

what disease is cafe-au lait macules seen in

A

NF type 1

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6
Q

skin signs of NF type 1

A

cafe au lait
neurofibromas
axillary or inguinal freckling
lisch nodules

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