Neurodermatology

Question 1

Neurofibromatosis type 1 is characterized by having?

Answer 1

-cafe-au-lait spots(birthmarks)
-lisch nodules of the iris
-fibromatous dermal tumors
-neoplasms in CNS and PNS

Question 2

What is the most diagnostically reliable sign for NF1?

Answer 2

axillary freckles (present in all NF1 patients)

Question 3

NF1 gene encodes ….?

Answer 3

neurofibromin

Question 4

NF1 is what type, peripheral or central?

Answer 4

peripheral type - Von Recklinghausen disease

Question 5

NF2 is what type, peripheral or central?

Answer 5

Central type - acoustic schwannomas

Question 6

Tuberous Sclerosis

Answer 6

have harmatomas in multiple organ systems like heart,kidney,brain, skin and lungs

Question 7

what is the name of the malignant tumors that can arise from tuberous sclerosis?

Answer 7

subependymal giant cell astrocytomas

Question 8

What are the skin lesions present in patients with Tuberous sclerosis?

Answer 8

ash leaf spots

Question 9

Fabry Disease

Answer 9

X linked
Neurocutaneous disease
Related to absent activity of alpha-galactodinase A

Question 10

With what cranial nerve is Stugeweber syndrome associated with?

Answer 10

CN 5 Trigeminal nerve

Question 11

Ataxia-Telangiectasia

Answer 11

-Autosomal recessive disorder
-Related to degeneration of cerebellar cortex
-Causes degeneration of other parts of the brain:like brainstem,anterior/posterior horns of spinal cord