Genetics dermatology Flashcards

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1
Q

Nails with baby nails on top?

A

Tuberous sclerosis

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2
Q

2 characteristics of tuberous sclerosis?

A

Periungal fibromata

Longitudnal ridging

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3
Q

Early cutaneous sign of tuberous sclerosis?

A

Ash leaf macule

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4
Q

What type of gene disorder is tuberous sclerosis?

A

Autosomal dominant

-But new mutations are common

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5
Q

Genes involved in tuberous sclerosis?

A

TSC1 & TSC2 (Tuberosclerosis 1&2)

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6
Q

What is epidermis bullosa?

A

Group of genetic skin fragility conditions

-Variable severity

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7
Q

3 main types of epidermis bullosa?

A

Simplex
Junctional - occurs at dermo-epidermal junction
Dystrophic

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