Genetics Flashcards
1
Q
earliest sign=ash leaf macule (depigmented macules)
A
tuberose sclerosis
2
Q
shagreen patches and enamel pitting
A
tuberose scerlosis
3
Q
can present at infantile seizures
A
tuberose sclerosis
4
Q
what is tuberose sclerosis
A
a very common genodermatoses which can present in many different ways
5
Q
where are these tumours? periungal fibromas
A
around nails
6
Q
where are these tumours facial angiofibromas?
A
face
7
Q
where are these tumours? angiomyolipomas/hamartomas
A
heart, lungs, kidneys
8
Q
what is Epidermolysis Bullosa
A
a group of genetic skin fragility conditions
9
Q
what are the 3 main types of epidermolysis?
A
simplex
junctional
dystrophic
10
Q
> 5 cafe au lait macules suggest what?
A
genetic disease
11
Q
cafe au lait macules neurofibromas axillary or inguinal freckles optic glioma 2 or more lisch nodules a distinctive bony lesion plexiform neuroma
A
neurofibromatosis type 1
12
Q
skin barrier gene
A
filaggrin
