genetic skin conditions Flashcards
what is precision medicine
identify subgroup of patients who will respond to treatment
what is haploinsufficiency
only one copy of gene working –> reduced protein made
what is dominant negative gene mutations
abnormal protein interferes with the normal ones activity
what is gain of function gene mutation
mutant protein gains new process
what is loss of protein
autosomal recessive, no protein produced
what is tuberous sclerosis
lots of benign tumour all over body (not just skin) that can look like acne
what type of inheritance is tuberous sclerosis and what % of kids will be affected
autosomal dominant 50%
what things are associated with infantile seizures of tuberous sclerosis
cortical tubers, epilepsy, potential impairment
what features are associated with tuberous sclerosis
seizures, ash-leaf macule, shagreen patches, enamel pitting, tumours.
what tumours are associated with tuberous sclerosis
periungal fibroma (around nail), facia angiofibroma, harmartomas, bone vysts
what chromosomes and genes are affected
chromosome 9 or 16, tuberin and harmatin genes
what is epidermolysis bullosa (EB)
genetic skin fragility causing widespread blistering and skin loss
what are the 3 types of EB and what do they affect
simplex (epidermis), junctional (DEJ), dystrophic (dermis)
what is EB aquisita
rare autoimmune condition
what type of inheritance is neurofibromatosis and when does it present
autosomal dominant, birth onwards
