NEUROFIBROMATOSIS

A 17 year old female consults with a dermatologist because she has numerous freckles. She states that her mother also has many spots on her skin. The physical examination reveals:

There are eleven tan brown macules measuring around 2 cm. There are 3 subcutaneous nodules and she has pigmented nodules in her left iris.

1-The diagnosis is:

A-Neurofibromatosis type 1

B-Neurofibromatosis type 2

C-Tuberous sclerosis

D-von Hippel-Lindau syndrome

E-None of the above

Correct answer: A

2-The diagnostic criteria for this entity include:

A-Six or more café au lait spots

B-Two or more neurofibromas

C-Freckling in the axillary or inguinal regions

D-Lisch nodules

E-All of the above

3-The presence of bilateral tumors involving cranial nerve VIII, prompt consideration of:

A-Neurofibromatosis type 1

B-Neurofibromatosis type 2

C-Neurofibromatosis type 3

D-Tuberous sclerosis

E-von Hippel-Lindau Disease

4-A patient with NF-2 is at increased risk of having:

A-Meningiomas

B-Schwannomas

C-Meningioangiomatosis

D-Hamartomas

E-All of the above

5-Neurofibromatosis is:

A-X-linked recessive

B-X-linked dominant

C-Autosomal recessive

D-Autosomal dominant

E-None of the above