SR4-Misc Diseases Flashcards
____ is an autosomal dominant disorder (50% from spontaneous mutations). It has two main subtypes.
Neurofibromatosis
NF1 is ____ (central, peripheral), and is the subtype in __% of cases
Peripheral, 90%
NF1 is also called?
Von Recklinghausen’s
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.
NF2
___ nodules of the iris are found in 94% of individuals with NF1
Lisch
A person must have __ or more cafe-au-lait (CAL) spots to diagnose NF1
6
Around what age do cafe-au-lait spots develop in NF1?
3
What type of margins (edges) are seen in the CAL spots of NF1?
Smooth (coast of California)
What skin finding is helpful for dark-skinned individuals with NF1?
Axillary and/or inguinal freckling
CAL spots must be >__cm in pre-pubertal individuals, and >__cm in post-pubertal people.
.5cm, 1.5cm
The “coast of Maine” appearance of CAL spots is associated with what syndrome?
McCune-Albright
Another skin finding in patients with NF1 is ____, a raised, fleshy, pedunculated lesion
Fibroma molluscum
Name some spinal manifestations of neurofibromatosis:
- Kypho-scoliosis
- Posterior VB wedging
- “Dumb bell” tumors (CT/MRI only)
- IVF enlargement
- Pedicle erosion/destruction
NF2 affects what cranial nerve?
CN8 (Vestibulocochlear)
Paget’s disease is also called?
Osteitis Deformans
The male:female ratio of Paget’s disease is about ___
2:1
Paget’s rarely affects people younger than __
45
What is the most common symptom of Paget’s?
Bone pain!
List the three stages of Paget’s:
- Lytic (increased osteoclastic activity)
- Mixed
- Blasting (disorganized osteoblastic activity)
During the lytic phase of Paget’s, a lucent line appears in long bones known as:
“Blade of grass” or “flame” sign
Osteoporosis circumscripta (aka geographic skull) is found in what phase of Paget’s?
Lytic
In the ___ phase of Paget’s, bone is starting to heal.
Mixed
In the blastic phase of Paget’s, the skull has a ____ appearance
“Cotton Wool”
During the blastic phase of Paget’s, the spine may show a ___ appearance
Ivory vertebra
It is common for long bones to show ____ deformities during the blastic phase of Paget’s
Bowing
The acronym “IHOP” refers to what?
Ivory Vertebra
Hodgkin’s Lymphoma
Osteoblastic Mets
Paget’s
Bisphosphanates and Calcitonin are medical treatments for ____
Paget’s Disease
T/F: Paget’s disease can be found in weird places.
TRUE
