Genodermatoses Flashcards
What genes are mutated in tuberose sclerosis, where are they found and what do they do?
TSC1, found on chromosome 9 and produces tumour suppressor protein hamartin
TSC2, found on chromosome 16 and produces tumour suppressor protein tuberin
How is tuberose sclerosis inherited?
Autosomal dominant
Sporadic mutation is common
How does tuberose sclerosis present?
- ash leaf macules
- cortical tubers (may cause infantile seizure)
- angiomyolipoma
- periungal fibroma
- facial angiofibroma
What drug can be used in the management of tuberose sclerosis?
mTOR inhibitors
What gene is mutated in neurofibromatosis type 1?
NF1 gene
How does neurofibromatosis type 1 present?
- cafe au lait macules
- axillary/inguinal freckling
- optic glioma
- lisch nodules
- neurofibromas
- bony abnormalities
- learning difficulties
What drug can be used in the management of neurofibromatosis type 1?
Trametinib (MEK inhibitor)
What is epidermolysis bullosa (EB) and what causes it?
Group of skin fragilities caused by mutation of one of the proteins involved in skin structure/adhesion
Blistering at birth confers a poor prognosis in epidermolysis bullosa (EB). True or false?
False
In epidermolysis bullosa simplex, what skin structure is affected by the mutation?
Epidermis
In junctional epidermolysis bullosa, what skin structure is affected by the mutation?
Proteins holding epidermis to dermis
In dystrophic epidermolysis bullosa, what skin structure is affected by the mutation?
Fibres within the dermis
What epidermolysis bullosa condition causes scarring?
Dystrophic EB
What is epidermolysis bullosa aquisitsa?
Rare autoimmune condition against proteins of skin adhesion
What epidermolysis bullosa condition presents in adulthood?
EB aquisitsa
