Neurocutaneous Disorders

Question 1

Patient presents with hypopigmented lesions on the back as well as a soft systolic murmur heard best over the apex. You also see raised thickened patch of leathery skin on the lower back. this patient has a mutation at what gene?

Answer 1

TSC1/TSC2 mutation AD

Question 2

Glaucoma and Epilepsy is associated with what condition?

Answer 2

Sturge Weber

Question 3

Tram track calcification on opposing gyri is associated with what condition?

Answer 3

Sturge Weber

Question 4

Which condition should be suspected if meningiomas are found in a child?

Answer 4

NF2

Question 5

Juvenile cataracts are associated with what condition?

Answer 5

NF2

Question 6

A patient presents with trouble with vision. You notice a highly vascular mass in the eye with hyperchromatic nuclei. You also notice a nest of proliferating capillaries in the buccal mucosa. What twp tumors is this patient most likely to get?

Answer 6

Bilateral Renal Cell Carcinoma
Pheochromocytoma
(Von Hippel Lindau)

Question 7

In Von Hippel Lindau what gene is affected? What factor is that? How is it inherited?

Answer 7

VHL gene
ubiquitinates hypoxia-inducible factor 1
AD

Question 8

Angioomylipoma and Cardiac Rhabdomyoma occur in what neurocutaneous disorder?

Answer 8

Tuberous Sclerosis

Question 9

What gene is malfunctioned in sturge weber?

Answer 9

GNAQ gene

Question 10

Patient presents with development of seizures. You notice small bumps scattered around face and hypopigemented lesion on the back. This patient is most likely to development what type of tumor?

Answer 10

Hamartomas in the CNS and Skin

tuberous sclerosis

Question 11

A patient presents with fluctuating feelings that her heart is going to beat out of her chest. She says they last a couple minutes and then go away. On further examination you find pigmented lesions in the eyes, dark colored macules in the trunk, and cutaneous swirl like tumors of on the skin. What disorder is this? What is the gene? What is the inheritance?

Answer 11

Neurofibromatosis type 1
NF1 tumor suppressor gene
AD

Question 12

Bilateral acoustic scwannomas are seen in what condition? What is the inheritance?

Answer 12

NF2

AD

Question 13

Angiomatosis of the skin, mucosa, and organs is assc with what condition?

Answer 13

Von Hippel Lindau

Question 14

Which condition has an increase risk for subependymal giant cell astrocytomas and ungual fibromas?

Answer 14

Tuberous Sclerosis

Question 15

Ash leaf spots are associated with what condition?

Answer 15

Tuberous Sclerosis

Question 16

Cafe au lait spots are associated with what condition?

Answer 16

NF1

Question 17

Episceral Hemangioma is assc with which condition?q

Answer 17

Sturge Weber

Question 18

Which one of the neurocutaneous disorders is NOT INHERITED?

Answer 18

Sturge Weber

sporadic