Bone Flashcards
What type of mutation is achondroplasia?
-gain of function AD mutation in fibroblast growth factor receptor 3
Osteogenesis Imperfecta
- defect in synthesis of collagen 1
- blue sclera
Osteopetrosis
- erlenmeyer flask shaped deformity
- tx: hematopoetic stem cell transplantation
- AD and AR types
- myelophistic process causes bone marrow to be depleted leading to anemia
- narrowing of cranial foramina
Paget’s Disease
- excessive bone resorption followed by disorganized bone replacement
- may be due to infection with paramyxovirus and mutations of SQSTM1
- 3 stages: osteolytic stage, mixed, and osteosclerotic stage
- inc. alk phos and hydroxyproline
- mosaic pattern of lamellar bone
- Beethoven may have had this (deaf after 40) (or neurosyphilis)
What part of the bone does hematogenous osteomyelitis typically affect?
The metaphasis
Sunburst sign on X Ray is indicative of:
Osteosarcoma
Ewing Sarcoma
A type of bone cancer arising within the marrow cavity.
Onion skin layering of new bone.
Diaphysis of long bones most affected.
Small, round, blue cells may form Homer Wright pseudo rosettes.
T(11;22) mutation in EWS/FLI1 common.
Heberden Nodes
Distal interphalangeal joint swelling due to osteoarthritis.
Bouchard Nodes
Proximal interphalangeal joint nodes due to osteoarthritis.
HLA associations with RA?
HLA DR4 and HLA DR1
HLA associated with spondyloarthopathies?
HLA B27
Triad of reactive arthritis.
Can’t see, can’t pee, can’t climb a tree. I.e. Conjunctivitis, urethritis, and arthritis. Often follow venereal dz or dysentery.
Pseudogout
- Weakly birifringent rhomboid shaped crystals made of calcium pyrophosphate
- knee joint is commonly involved
When do you see a dry tap?
- aplastic anemia
- myelofibrosis
- hairy cell leukemia
Causes of aseptic necrosis of femoral head.
- long term corticosteroids
- may see bilateral hip pain
