NEUROFIBROMATOSIS

Question 1

autosomal dominant
neurofibromas
cafe au lait spots
lisch nodules

Answer 1

type I von recklinghausen’s disease

Question 2

what are the associated lesions?

Answer 2

skeletal: bone cysts, sphenoid dysplasia, pseudoarthoses

increased incidence: chronic myeloid leukemia, neurofibrosarcoma, rhabdomyosarcoma, pheochromocytoma

Question 3

the gene that affects type 1 neurofibromatosis?

what does this encode?

Answer 3

NF-1 gene, chromosome 17

neurofibromin

Question 4

type I diagnosis is based on?

Answer 4

cafe au lait spots
plexiform neuroma
lisch nodules

Question 5

this type of neurofibromatosis is much less common and autosomal dominant?

Answer 5

type II

Question 6

what type of neurofibromatosisis this?

bilateral acoustic schwannoma

mulitple meningiomas

gilomas

non-neoplastic lesions

*cafe au lait spots but no lisch nodules

what gene is this located on?

Answer 6

type II

merlin gene (E-cadherin-mediated), chrom 22