SR4-Misc Diseases

Question 1

____ is an autosomal dominant disorder (50% from spontaneous mutations). It has two main subtypes.

Answer 1

Neurofibromatosis

Question 2

NF1 is ____ (central, peripheral), and is the subtype in __% of cases

Answer 2

Peripheral, 90%

Question 3

NF1 is also called?

Answer 3

Von Recklinghausen’s

Question 4

The main features of this subtype of neurofibromatosis are it’s central location, and acoustic neuromas (hearing loss, balance problems). It only accounts for 10% of NF cases.

Answer 4

NF2

Question 5

___ nodules of the iris are found in 94% of individuals with NF1

Answer 5

Lisch

Question 6

A person must have __ or more cafe-au-lait (CAL) spots to diagnose NF1

Answer 6

6

Question 7

Around what age do cafe-au-lait spots develop in NF1?

Answer 7

3

Question 8

What type of margins (edges) are seen in the CAL spots of NF1?

Answer 8

Smooth (coast of California)

Question 9

What skin finding is helpful for dark-skinned individuals with NF1?

Answer 9

Axillary and/or inguinal freckling

Question 10

CAL spots must be >__cm in pre-pubertal individuals, and >__cm in post-pubertal people.

Answer 10

.5cm, 1.5cm

Question 11

The “coast of Maine” appearance of CAL spots is associated with what syndrome?

Answer 11

McCune-Albright

Question 12

Another skin finding in patients with NF1 is ____, a raised, fleshy, pedunculated lesion

Answer 12

Fibroma molluscum

Question 13

Name some spinal manifestations of neurofibromatosis:

Answer 13

1. Kypho-scoliosis
2. Posterior VB wedging
3. “Dumb bell” tumors (CT/MRI only)
4. IVF enlargement
5. Pedicle erosion/destruction

Question 14

NF2 affects what cranial nerve?

Answer 14

CN8 (Vestibulocochlear)

Question 15

Paget’s disease is also called?

Answer 15

Osteitis Deformans

Question 16

The male:female ratio of Paget’s disease is about ___

Answer 16

2:1

Question 17

Paget’s rarely affects people younger than __

Answer 17

45

Question 18

What is the most common symptom of Paget’s?

Answer 18

Bone pain!

Question 19

List the three stages of Paget’s:

Answer 19

1. Lytic (increased osteoclastic activity)
2. Mixed
3. Blasting (disorganized osteoblastic activity)

Question 20

During the lytic phase of Paget’s, a lucent line appears in long bones known as:

Answer 20

“Blade of grass” or “flame” sign

Question 21

Osteoporosis circumscripta (aka geographic skull) is found in what phase of Paget’s?

Answer 21

Lytic

Question 22

In the ___ phase of Paget’s, bone is starting to heal.

Answer 22

Mixed

Question 23

In the blastic phase of Paget’s, the skull has a ____ appearance

Answer 23

“Cotton Wool”

Question 24

During the blastic phase of Paget’s, the spine may show a ___ appearance

Answer 24

Ivory vertebra

Question 25

It is common for long bones to show ____ deformities during the blastic phase of Paget’s

Answer 25

Bowing

Question 26

The acronym “IHOP” refers to what?

Answer 26

Ivory Vertebra Hodgkin’s Lymphoma Osteoblastic Mets Paget’s

Question 27

Bisphosphanates and Calcitonin are medical treatments for ____

Answer 27

Paget’s Disease

Question 28

T/F: Paget’s disease can be found in weird places.

Answer 28

TRUE