Genetics Flashcards
Most common genodermatoses / skin disease?
Tuberous sclerosis
Tuberous sclerosis typically presents in infancy with….
Infantile seizures (due to cortical tubers)
Tuberous sclerosis is inherited in which pattern?
Autosomal dominant
Ash leaf macules is buzzword for…
Tuberous sclerosis
Enamel pitting and shagreen patches buzzwords for….
Tuberous sclerosis
Tuberous sclerosis involves one gene. True/false?
False - involves TSC1 and TSC2
The affected proteins in tuberous sclerosis are (2)
-Tuberin -Hamartin
If a parent is affected with tuberous sclerosis, what is the child’s risk?
50% (autosomal dominant)
Tuberous sclerosis is a Mendelian disorder. True/false?
True
Signs of epidermolysis bullosa include
-Extreme skin blistering / fragility with handling
Epidermolysis bullosa has a single mode of inheritance. True/false?
False - can be dominant, recessive or acquired
What is the clinically severest form of epidermolysis bullosa?
Dystrophic
How many genes are implicated in epidermolysis bullosa?
>10
If both parents carry one gene for an autosomal recessive condition and have a child, what is the risk the child will develop that condition?
1:4
Asymptomatic coffee flat marks / Cafe-au-lait macules is buzzword for…
Neurofibromatosis type 1
Neurofibromatosis type 1 responds to MEK inhibitors (e.g. selumetinib, tramentinib). True/false?
True
Filaggrin is named why?
FILament AGGregating proteIN
Mutation of filaggrin is assoicated with what type of allergy?
Peanut allergy (5x more likely)
Spot diagnosis
Tuberous sclerosis
What are these signs?
Periungual fibroma, longitudinal ridging
Spot diagnosis
Tuberous sclerosis (Depigmented lesion / Ash-Leaf macule)
Spot diagnosis
Tuberous sclerosis (Shagreen Patches)
Spot diagnosis
Epidermolysis Bullosa (junctional)
Spot diagnosis
NFT-1 (cafe-au-lait)
