Genetic Skin Conditions Flashcards
1
Q
What type of inheritance is tuberose sclerosis?
A
autosommal dominant
2
Q
what is the earliest sign of TS
A
ash leaf macule
3
Q
Name the five types of tumours that may be present in TS
A
Periungual fibromas (nails) facial angiofibromas cortical tubers hamartomas bone cysts
4
Q
how else may TS present
A
childhood seizures (due to cortical tubers)
5
Q
what other skin manifestations may TS have
A
shagreen patches
enamel pitting
6
Q
Name the three types of epidermolysis bullosa
A
simplex
junctional
dystrophic
7
Q
what is the rare autoimmune form of EB
A
EB aquisita
8
Q
how many cafe au lait macules suggest genetic disease
A
more than five
9
Q
Describe the features of neurofibromatosis
A
cafe au lait neurofirbomas plexifrom neuroma axillary or inguinal freckling optic glioma two or more lisch nodules bony lesions
10
Q
what is filaggrin
A
filamen aggregating protein
11
Q
what can be caused by a loss of function mutation in FLG
A
ichthyosis vulgaris
