Genetics Flashcards
What is the triad of Tuberose Sclerosis?
- Learning difficulties
- Epilepsy
- Skin Lesions
What is the hallmark of Tuberose Sclerosis?
Hamatomas in many systems
List some clinical features associated with Tuberose Sclerosis
Hamartomas, Ash leaf Macules, Angiofibromas. Shagreen patched, enamel pitting
What is the genetic fault in Tuberose Sclerosis?
Autosomal dominant mutation in one of the two genes TSC-1 or TSC-2
What is Periungual fibromata?
Smooth, firm, flesh coloured lumps that emerge from the nail folds.
How many genes are there to do with skin structure and adhesion?
10
What are the three types of Epidermolysis Bullosa?
- Epidermolysis bullosa simplex
- Junctional Epidermolysis bullosa
- Dystrophic Epidermolysis bullosa
What is the most common Epidermolysis bullosa?
Epidermolysis bullosa simplex
What is the most severe type of Epidermolysis bullosa?
Junctional Epidermolysis bullosa
In which Epidermolysis bullosa does webbing occur?
Dystrophic Epidermolysis bullosa
Multiple cafe au lasts from birth, axillary or inguinal freckling, neurofibromas..diagnosis?
Neurofibromatosis. Type I is the most common and affects the skin
What is the genetic mutation in Neurofibromatosis Type II?
Mutation of NF1 gene on chromosome 17.
What is the management for Neurofibromatosis?
Target the Ras-GTP signalling pathway with MEK inhibitors
What are the three factors that contribute to Atopic Eczema?
Skin barrier function, environmental factors and immunological factors
What is the genetic mutation in the skin barrier function in atopic eczema?
Mutations in the fillagrin gene causing Ichthyosis Vulgaris.
