Musculoskeletal and Derm Flashcards
What type of mutation and in what gene causes achondroplasia?
Activating mutation in FGFR3
What is the probability two heterozygous achondroplasia parents will have a child with the disease?
50% because homozygous dominant dies in utero
What bone tumor appears as a peduncle with a cartilage cap?
Osteochondroma
“osteoCHondroma = CHunk of bone”
What bone tumor has a soap bubble appearance on X ray?
Osteoclastoma (giant cell tumor)
“osteoCLastoma = CLean = soap bubbles”
What bone tumor has Codman’s triangle and sunburst appearance on X ray?
Osteosarcoma
“osteoSarComa = Sunburst, Codman’s triangle”
What bone tumor is found in the diaphysis and has an onion skin appearance?
Ewing sarcoma
“chicken wings (ewing) and onion rings (onion skin)”
What translocation is associated with ewing sarcoma?
t(11;22)
What is the average age of presentation for the 4 primary bone tumors?
Osteochondroma, osteoclastoma, osteosarcoma, ewing sarcoma
Osteochondroma:
What metastatic cancers are found in bone?
“Permanently Relocated Tumors Like Bone”
Prostate, renal cell, testes/thyroid, lung, breast
GU association - kidney, prostate, testes
What GI drugs can increase risk for osteoporosis?
PPIs or H2 blockers - need acid to absorb Ca
What are the 2 side effects of bisphosphonates?
Erosive esophagitis and osteonecrosis of the jaw
What is the mechanism of Teriparatide?
PTH analog that when given as pulsitile stimulates osteoblast bone formation
What is the mechanism of Denosumab?
Monoclonal antibody against RANKL (blocks osteoclast stimulation)
What gene mutation causes osteoporosis?
Carbonic anhydrase 2 (osteoclasts cannot make the acidic environment needed to resorb minerals)
What is the pathogenesis of Paget’s disease of the bone?
Lytic - osteoclasts overstimulated
Mixed - osteoblasts activated to catch up
Sclerotic - osteoclasts burn out
Increased hat size and hearing loss
Paget’s disease of the bone
How is ALP affected in osteoporosis, osteoporosis, and Paget’s disease of the bone?
ALP is a marker of osteoblasts
Osteoporosis (decreased osteoblasts) - normal
Osteopetrosis (decreased osteoclasts) - normal
Paget’s disease (increased osteoblasts and clasts) - increased
What causes Osteitis Fibrosa Cystica?
What 4 changes are seen in the bone?
High PTH Brown tumors (cysts lined with fibrous tissue and filled with blood = due to fast osteoclast breakdown), subperiosteal bone resorption in middle fingers, tapered distal clavicles, salt and pepper skull
What is McCune Albright Syndrome?
Precocious puberty + cafe au lait spots + polyostotic fibrous dysplasia
What is polyostotic fibrous dysplasia?
Bone is replaces with fibroblasts and collagen
What is Albright Hereditary Osteodystrophy (pseudohypoparathyroid)?
What bone pathology is associated?
Renal PTH resistance - high PTH + low Ca/high PO4
Causes Osteitis fibrosis cystica
What 4 structures may be injured in a posterior hip dislocation?
Circumflex femoral arteries (medial and lateral)
Femoral vein
Femoral nerve
Head of the femur
What ligament is most commonly damaged in an ankle sprain?
What other two are also common?
The 3 lateral ligaments are more common than the medial deltoid ligament.
Most common - anterior talo-fibular ligament
“Always Tears First”
Other lateral ligaments - calcaneo-tibular, posterior talo-fibular
What 2 antibodies are most useful in diagnosing RA?
RF and ACPA (anti-citrullinated protein Ab)
What HLA gene is associated with RA?
HLA-DR4
What two ways can NSAIDs cause renal damage?
Ischemia (loss of PGs that dilated the afferent arteriole and control RBF) and interstitial nephritis
What joint disease can lactic acidosis cause?
Gout - organic acids compete for the same renal transporter as uric acid
What is the most common trigger for an acute gout attack?
Alcohol consumption - competes for the same renal transporter as uric acid
Allopurinol can increase the toxicity of what two drugs?
6-mercaptopurine and azathioprine
What is the mechanism of Febuxostat?
Xanthine oxidase inhibitor
What is the mechanism of Probenecid?
Inhibits uric acid resorption in the kidneys
What effect does Colchicine have on microtubules?
Stabilizes them
What pathology is associated with chonedrocalcinosis?
Pseudogout
What pathology is associated with a pencil-in-cup deformity of the DIP joints?
Psoriatic arthritis
What type of arthritis is associated with dactylics?
Psoriatic arthritis
What type of arthritis is associated with uveitis, aortic regurgitation, and conduction abnormalities?
Ankylosing spondylitis
What is reactive arthritis?
What triggers an episode?
Conjunctivitis, urethritis, and arthritis
“Cant see, can’t pee, can’t climb a tree”
Post GI infection (shigella, salmonella, yersinia, campylobacter) or chlamydia