Flashcards in Genetics Deck (10):
What is the early cutaneous sign of tuberose sclerosis?
What tumours are common in tuberose sclerosis?
Periungal fibromas (around nails)
Facial angiofibromas ('adenoma sebaceum')
Calcification of falx cerberi/cortical tumours
Skin signs of tuberose sclerosis
How is tuberose sclerosis passed on?
What is epidermolysis bullosa?
A group of genetic skin fragility disorders
What are the 3 main types of EB?
How many cafe au lait spots suggests genetic disease?
Features of NF1
Cafe au lait
Plexiform neuroma -diffuse
Axillary or inguinal freckling
2 or more lisch nodules
A distinctive bony lesion
Lose of which gene makes eczema, asthma & hayfever more likely?