Genetics Flashcards
1
Q
What is the early cutaneous sign of tuberose sclerosis?
A
Ash-leaf macule
2
Q
What tumours are common in tuberose sclerosis?
A
Periungal fibromas (around nails)
Facial angiofibromas (‘adenoma sebaceum’)
Calcification of falx cerberi/cortical tumours
Angiomyolipomas
Bone cysts
3
Q
Skin signs of tuberose sclerosis
A
Shagreen patches
Enamel pitting
4
Q
How is tuberose sclerosis passed on?
A
Autosomal dominant
5
Q
What is epidermolysis bullosa?
A
A group of genetic skin fragility disorders
6
Q
What are the 3 main types of EB?
A
Simplex
Junctional
Dystrophic
7
Q
How many cafe au lait spots suggests genetic disease?
A
> 5
8
Q
Features of NF1
A
Cafe au lait Neurofibromas Plexiform neuroma -diffuse Axillary or inguinal freckling 2 or more lisch nodules A distinctive bony lesion
9
Q
Lose of which gene makes eczema, asthma & hayfever more likely?
A
Filaggrin
10
Q
How does tuberose sclerosis present in infants?
A
Seizures
