Neurocutaneous Disorders Flashcards
Sturge-Weber Syndrome is a congential, noninherited (sporadic), developmental anomaly of ______________ derivatives due to __________ for an activating mutation in one copy of the _____ gene.
- Neural Crest derivatives
- Somatic mosaicism
- GNAQ
Sturge-Weber Syndrome affects what sized blood vessels?
Small (capillary sized)
What is the distribution of the nevus flammeus, non-neoplastic birthmark of the face in Sturge-Weber syndrome?
CN V1-V2 distribution - port wine stain
Mnemonic for Sturge-Weber Syndrome (encephalotrigeminal angiomatosis)?
S - Sporadic, port-wine Stain
T - Tram Track calcifications
U - Unilateral
R - Retardation
G - Glaucoma, GNAQ gene
E - epilepsy
Mutation for Tuberous sclerosis?
TSCI/TSC2 on chromosome 16
What is the inheritance pattern for Tuberous sclerosis?
Autosomal dominant, variable expression
What are the common findings with Tuberous sclerosis?
H - Hamartomas in CNS, skin
A - Angiofibromas
M - Mitral regurgitation
A - Ash-leaf spots
R - Rhabdomyoma
M - Mental Retardation
renal Angiomyolipoma
S - seizures
S - Shagreen patches
Which disorder has an increased incidence of subependymal giant cell astrocytomas and ungual fibromas?
Tuberous Sclerosis
What is the mutation in Neurofibromatosis 1 (Von Recklinghausen disease)?
NF1, Tumor suppressor gene on chromosome 17
What does NF1 normally code for?
Neurofibromin, a negative regulator of RAS
What is the inheritance pattern of NF1?
AD, 100% penetrance!
What are the signs of neurofibromatosis 1?
- Cafe-au-lait spots
- cutaneous neurofibromas
- optic gliomas
- pheochromocytomas
- Lisch nodules
What is the mutation for Neurofibromatosis 2?
NF2 tumor suppressor gene on chromosome 22
What are the physical findings for NF2? (AD)
Bilateral acoustic schwannomas
Juvenile cataracts
Meningiomas, ependymomas
What is the mutation and inheritance pattern of Von Hippel-Lindau disease?
Deletion of VHL gene on chromosome 3p, Autosomal dominant