Genetic dermatology conditions Flashcards Preview

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Flashcards in Genetic dermatology conditions Deck (10)
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1
Q

Tuberous Sclerosis follows the _____ pattern of inheritance.

A

Mendelian

-Autosomal dominant

2
Q

What is the earliest cutaneous sign of Tuberous Sclerosis?

A

ash leaf macule

3
Q

How does Tuberous Sclerosis present?

A
  • Periungual fibromas (around nails)
  • Facial angiofibromas (adenoma sebaceum)
  • Hamartomas (normal tissue overgrowth)
  • Bone cysts
4
Q

What is Empidermolysis Bullosa (EB)?

A

A group of genetic skin fragility conditions

  • autoimmune
  • variable severity
5
Q

Epidermolysis simplex involves what layer of the skin?

A

Epidermis

6
Q

Junctional Epidermolysis Bullosa cleaves the epidermis off at the…

A

dermo-epidermal junction

7
Q

Dystrophic Epidermolysis Bullosa affects the _____ and thus results in _____

A

dermis

scarring

8
Q

Cafe au lait macules can be indicative of what condition?

A

neurofibromatosis

9
Q

List the features of Neurofibromatosis:

A
  • cafe au lait macules
  • neurofibromas
  • axillary/inguinal freckling
  • optic glioma
  • Lisch nodules
10
Q

Ichthyosis vulgaris is caused by _____ mutations.

A

Filaggrin