Neurofibromatosis Flashcards
What cancer does neurofibromatosis cause and are they being or malignant
Neuroma
Benign
Neurofibromatosis type 1 is found on what chromosome
17
What type of mutation is type 1 neurofibromatosis?
Autosomal dominant
What features of neurofibromatosis type 1 are needed to make a diagnosis and how many are needed? (7)
CRABBING
C-Cafe-au-lait spots (6 or more)
R-Relative with NF1
A-Axillary or inguinal freckles
BB-Bony dysplasia such as Bowing of a long bone or sphenoid wing dysplasia
I-Iris hamartomas (Lisch nodules) yellow or brown spots on iris
N-Neurofibromas (2 or more)
G-Glioma of the optic nerve
2 or more for diagnosis
3 important complications of neurofibromatosis type 1
Renal artery stenosis causing hypertension
Malignant peripheral nerve sheath tumours
Gastrointestinal stromal tumour
What cancer TYPE does neurofibromatosis type 2 cause
Schwannoma
Neurofibromatosis type 2 can cause what specific cancer in what distribution
Bilateral acoustic neuromas