Genetics dermatology Flashcards
1
Q
Nails with baby nails on top?
A
Tuberous sclerosis
2
Q
2 characteristics of tuberous sclerosis?
A
Periungal fibromata
Longitudnal ridging
3
Q
Early cutaneous sign of tuberous sclerosis?
A
Ash leaf macule
4
Q
What type of gene disorder is tuberous sclerosis?
A
Autosomal dominant
-But new mutations are common
5
Q
Genes involved in tuberous sclerosis?
A
TSC1 & TSC2 (Tuberosclerosis 1&2)
6
Q
What is epidermis bullosa?
A
Group of genetic skin fragility conditions
-Variable severity
7
Q
3 main types of epidermis bullosa?
A
Simplex
Junctional - occurs at dermo-epidermal junction
Dystrophic