Other: Genetics and Skin Disease Flashcards
Whatis the earliest cutaneous sign of tuberous sclerosis?
Ash-leaf macules
What is tuberous sclerosis?
Autosomal dominant mutation associated with the formation of benign tumours in various organ systems
Define haploinsufficiency
Individual has only one copy of working gene, leading to reduced protein production
What is Neurofibromatosis Type I?
Genetic condition that causes tumours along the nervous system
What types of conditions is precision medicine most effective for?
Rare diseases and high penetrance mutations
What are the three main types of epidermolysis bullosa?
Simplex, junctional, dystrophic
Define precision medicine
Use some form of testing to identify a subgroup of patients who respond to treatment
What is epidermolysis bullosa?
A group of genetic skin fragility conditions of variable severity
What are Café au lait macules?
Flat, pigmented birthmarks that are often harmless but can be associated with syndromes such as Neurofibromatosis Type I
