Neurofibromatosis Flashcards
What are the two types of Neurofibromatosis
NF-1 (von Recklinghausen) and bilateral acoustic NF-2
Both disorders result in a defect of the
tumor-suppressor gene that regulate cell proliferation and growth
Nf-1 affects what chromosome
17
Nf2 effects what chromosome
22
Nf1 has a occurance of
1 in 3500
What percentage of NF1 cases are familial and new mutation
50:50
What is NF1 characterized by
multiple neural tumors (neurofibromas)
pigmented skin lesions like cafe au lait spots
lisch nodules of the iris
What is the most common lesion and when do they appear
cutaneous neurofibromas, in puberty
Where do cutaneous neurofibromas appear the most
the trunk
Large fibromas called plexiform Nfibromas involve what type of nerve and can cause what
peripheral nerves
they can cause severe disfigurement of the face
overgrowth of the extremeties
scoliosis
What sign is specific to NF1
pigmented nodules (lisch nodules) of the iris
Are the pigmented nodules of the iris problematic
no
When do pigmented nodules of the iris appear
usually after 6 years
What is an indication of someone having NF relating to lesions and cafe au lait spots
a few small lesions are common on children but larger lesions or six or more spots larger than 1.5cm are indicative of NF
What are some neurologic complications of NF1 that affect children
L earning disabilities
A DD
S peech abnormalities
S eizures
NF1 is also related with what neurogenic tumors
meningiomas
optic gliomas
pheochromocytomas
What is NF2 characterized by
tumors of the acoustic nerve
multiple meningiomas
What are NF2’s most frequent symptoms
hearing loss
headaches
tinitus (ringing in the ears)
What might make NF2 worse
pregnancy and oral contraceptives
What are some treatments
Surgery and radiotherapy
How long does it usually take to see signs of NF2
15+ years
Is NF dominant or recessive
dominant
What is are some ways to diagnose NF
skin, eyes, and hearing test
