Neurocutaneous disorders

Question 1

Which NC disorder is congenital/non-inherited?

Answer 1

Sturge-Weber

Question 2

What mutation causes Sturge-Weber? Name the gene and protein product

Answer 2

Activating mutation of GNAQ gene, which codes for the Gq signaling protein

Question 3

In Sturge-Weber, activating mutation of GNAQ gene causes a developmental anomaly of what type of cells?

Answer 3

NCC derivatives

Question 4

What’s the inheritance pattern of tuberous sclerosis?

Answer 4

AD

Question 5

What’s the inheritance pattern of NF 1?

Answer 5

AD

Question 6

What’s the inheritance pattern of VHL dz?

Answer 6

AD

Question 7

What mutation causes NF-1? What type of gene is this?

Answer 7

Mutated NF-1, a tumor supressor gene

Question 8

What’s the protein product of NF-1 and what is its function?

Answer 8

Neurofibromin, a negative regulator of Ras

Question 9

What gene is mutated in VHL dz? What downstream cellular events does this lead to?

Answer 9

VHL: causes constitutive expression of HIP and activation of angiogenic GFs

Question 10

Which NC syndromes are associated with pheochromocytoma?

Answer 10

NF-1 and VHL

Question 11

What’s another name for NF-1?

Answer 11

von Recklinghausen dz

Question 12

Which syndrome causes a port-wine stain in the CN V1/V2 distribution?

Answer 12

SW

Question 13

In SW, what’s often found in association with this port-wine stain?

Answer 13

Ipsilateral leptomeningeal angioma

Question 14

What symptoms can the leptomeningeal angioma of SW cause?

Answer 14

Seizures/epilepsy and ID

Question 15

Which syndrome is associated with pigmented hamartomas in the iris?

Answer 15

NF1

Question 16

Which syndrome is associated with bilateral RCCs?

Answer 16

VHL

Question 17

Which syndrome is associated with ash-leaf spots and shagreen patches?

Answer 17

TS

Question 18

Which syndrome is associated with cafe-au-lait spots?

Answer 18

NF-1 (also McCune-Albright if you’re really on yo gunner grind)

Question 19

Which syndromes are associated with ID?

Answer 19

SW, TS

Question 20

Which syndrome is associated with hemangioblastomas in the brain stem and cerebellum?

Answer 20

VHL

Question 21

Which syndrome is associated with cardiac rhabdomyosarcoma?

Answer 21

TS

Question 22

Which syndrome is associated with ungual fibromas?

Answer 22

TS

Question 23

Which syndrome is associated with episcleral hemangioma?

Answer 23

SW

Question 24

What’s a major complication of episcleral hemangioma?

Answer 24

Early-onset glaucoma (due to incr IOP)

Question 25

Which syndrome is associated with mitral regurg?

Answer 25

TS

Question 26

Which syndrome is associated with optic gliomas?

Answer 26

NF1

Question 27

Which syndrome is associated with subependymal astrocytomas?

Answer 27

TS

Question 28

Which syndrome is associated with retinal hemangioblastomas?

Answer 28

VHL

Question 29

Describe the microscopic histo of hemangioblastomas

Answer 29

High vascularity with hyperchromic nuclie

Question 30

Which syndrome is associated with CNS and skin hamartomas?

Answer 30

TS

Question 31

Which 2 syndromes are associated with seizures?

Answer 31

SW and TS

Question 32

Which syndrome is associated with skin neurofibromas?

Answer 32

NF1

Question 33

Which syndrome is associated with cavernous hemangiomas in skin/mucosa/organs?

Answer 33

VHL