Genetic Skin Conditions Flashcards
1
Q
epidermolysis bullosa
A
an inherited skin blistering condition, involving loss of adhesion molecules causing blister formation
2
Q
types of epidermolysis bullosa
A
simplex - in the epidermis
junctional - in the DEJ
dystrophic - in the dermis
3
Q
presentation of epidermolysis bullosa
A
“blistering baby”
- usually present when baby crawls (friction)
4
Q
inheritance of tuberous sclerosis
A
autosomal dominant
5
Q
presentation tuberose sclerosis
A
depigmented macules ('ash-leaf')
roughened patches over spine ('shagreen's patches)
facial angiofibromas
subungual fibromas
infantile seizures
developmental delay
intellectual impairment
6
Q
ash leaf macules
A
tuberose sclerosis
7
Q
shagreens patches
A
tuberose sclerosis
8
Q
infantile seizures
A
tuberose sclerosis
9
Q
inheritance of neurofibromatosis
A
autosomal dominant
10
Q
presentation of NF type 1
A
flat pigmented birthmarks (cafe au lait spots) axillary/groin freckles peripheral neurofibromas iris haematomas (Lisch nodules) scoliosis phaeochromocytoma
11
Q
presentation NF type 2
A
bilateral vestibular schwannomas
12
Q
lisch nodules
A
NF type 1 - iris haematomas
13
Q
cafe au lait spots
A
NF type 1
