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Flashcards in Genetics Deck (10):
1

What is the early cutaneous sign of tuberose sclerosis?

Ash-leaf macule

2

What tumours are common in tuberose sclerosis?

Periungal fibromas (around nails)
Facial angiofibromas ('adenoma sebaceum')
Calcification of falx cerberi/cortical tumours
Angiomyolipomas
Bone cysts

3

Skin signs of tuberose sclerosis

Shagreen patches
Enamel pitting

4

How is tuberose sclerosis passed on?

Autosomal dominant

5

What is epidermolysis bullosa?

A group of genetic skin fragility disorders

6

What are the 3 main types of EB?

Simplex
Junctional
Dystrophic

7

How many cafe au lait spots suggests genetic disease?

> 5

8

Features of NF1

Cafe au lait
Neurofibromas
Plexiform neuroma -diffuse
Axillary or inguinal freckling
2 or more lisch nodules
A distinctive bony lesion

9

Lose of which gene makes eczema, asthma & hayfever more likely?

Filaggrin

10

How does tuberose sclerosis present in infants?

Seizures