Neurofibromatosis type 1 Flashcards
1
Q
aetiology
A
NF1 gene (autosomal dominant)
2
Q
pathophysiology
A
benign growth of tumour in nervous system
3
Q
presentation (5)
A
neurofibromas
café au lait macules
axillary/inguinal frackling
lisch nodules in eyes
4
Q
what endocrine condition is neurofibromatosis associated with
A
pheochromocytomas (adrenal tumour)
5
Q
how would the disease look on a pedigree genetics chart
A
autosomal dominant
people are either affected or they aren’t, no carriers
