Neurofibromatosis Flashcards

1
Q

What cancer does neurofibromatosis cause and are they being or malignant

A

Neuroma

Benign

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2
Q

Neurofibromatosis type 1 is found on what chromosome

A

17

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3
Q

What type of mutation is type 1 neurofibromatosis?

A

Autosomal dominant

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4
Q

What features of neurofibromatosis type 1 are needed to make a diagnosis and how many are needed? (7)

A

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

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5
Q

3 important complications of neurofibromatosis type 1

A

Renal artery stenosis causing hypertension

Malignant peripheral nerve sheath tumours

Gastrointestinal stromal tumour

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6
Q

What cancer TYPE does neurofibromatosis type 2 cause

A

Schwannoma

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7
Q

Neurofibromatosis type 2 can cause what specific cancer in what distribution

A

Bilateral acoustic neuromas

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