Genetic dermatology conditions Flashcards
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
