Diseases Flashcards
Tuberous sclerosis cause
mutations in TSC1 or TSC2 gene
Tuberous sclerosis overview
rare genetic condition that causes mainly benign tumours to develop in different parts of the body
Earliest cutaneous sign of Tuberous sclerosis
ash leaf macules
Tuberous sclerosis signs
periungual fibromas
facial angiofibromas
cortical tubers
falx cerebri
hamartomas
bone cysts
shagreen patches
enamel pitting
Is Tuberous sclerosis autosomal dominant or recessive
Autosomal dominant but new mutations are common
when is epidermolysis bullosa usually diagnosed
babies and children
Epidermolysis Bullosa (EB) overview
group of rare inherited skin disorders that cause the skin to become very fragile. Any trauma or friction to the skin can cause painful blisters
3 types of Epidermolysis Bullosa
simplex, junctional, dystrophic
Epidermolysis Bullosa cause
gene mutation - dominant, recessive, new mutation or acquired
Epidermolysis Bullosa Acquisita
acquired (not inherited) form of EB with similar symptoms. Autoimmune disease
Neurofibromatosis type 1 overview
Genetic condition that causes (usually benign) tumours to grow along your nerves
Neurofibromatosis type 1 signs/symptoms
cafe au lait, neurofibromas, plexiform neuroma, axillary or inguinal freckling, optic glioma, 2 or more lisch nodules, a distinctive bony lesion
3 components that result in Eczema
skin barrier dysfunction + environmental factors + immunology
Deficiencies of Filaggrin lead to increased risk of
eczema, asthma, hayfever, peanut allergy
Cellulitis
deep infection of the skin caused by bacteria
