Neurocutaneous disorders Flashcards
Which NC disorder is congenital/non-inherited?
Sturge-Weber
What mutation causes Sturge-Weber? Name the gene and protein product
Activating mutation of GNAQ gene, which codes for the Gq signaling protein
In Sturge-Weber, activating mutation of GNAQ gene causes a developmental anomaly of what type of cells?
NCC derivatives
What’s the inheritance pattern of tuberous sclerosis?
AD
What’s the inheritance pattern of NF 1?
AD
What’s the inheritance pattern of VHL dz?
AD
What mutation causes NF-1? What type of gene is this?
Mutated NF-1, a tumor supressor gene
What’s the protein product of NF-1 and what is its function?
Neurofibromin, a negative regulator of Ras
What gene is mutated in VHL dz? What downstream cellular events does this lead to?
VHL: causes constitutive expression of HIP and activation of angiogenic GFs
Which NC syndromes are associated with pheochromocytoma?
NF-1 and VHL
What’s another name for NF-1?
von Recklinghausen dz
Which syndrome causes a port-wine stain in the CN V1/V2 distribution?
SW
In SW, what’s often found in association with this port-wine stain?
Ipsilateral leptomeningeal angioma
What symptoms can the leptomeningeal angioma of SW cause?
Seizures/epilepsy and ID
Which syndrome is associated with pigmented hamartomas in the iris?
NF1
Which syndrome is associated with bilateral RCCs?
VHL
Which syndrome is associated with ash-leaf spots and shagreen patches?
TS
Which syndrome is associated with cafe-au-lait spots?
NF-1 (also McCune-Albright if you’re really on yo gunner grind)
Which syndromes are associated with ID?
SW, TS
Which syndrome is associated with hemangioblastomas in the brain stem and cerebellum?
VHL
Which syndrome is associated with cardiac rhabdomyosarcoma?
TS
Which syndrome is associated with ungual fibromas?
TS
Which syndrome is associated with episcleral hemangioma?
SW
What’s a major complication of episcleral hemangioma?
Early-onset glaucoma (due to incr IOP)
