MSK Pathology Flashcards
(115 cards)
Achondroplasia is a defect in
cartilage = failure of long bone growth
Specific achondroplasia mutation
Autosomal Dominant Mutation of fibroblast growth factor receptor (FGFR)–short arm of chromosome 4
Achondroplasia presentation
Short arms and legs (endochondral ossificaiton), normal torso and head (intramembranous ossification is unaffected)
Osteogenesis imperfecta defect
AD mutation resulting in defective Type I collagen synthesis
The classic triad of OI- type 3
Multiple Fractures in strange places Blue sclera Hearing loss (inner ear bones Fx)
Examples of type 1 collagen
tendons, ligaments, the endomysium of myofibrils, interstitial stroma, the organic part of the bone, the dermis, the dentin, and organ capsules.
Labs for Osteopetrosis
Pancytopenia
2 Neuro complications of osteopetrosis
Vision/hearing impariment due to compression of nerves by foramina
Pathogenesis of osteopetrosis. Mechanism?
Lack of osteoclast function
Rickets/Osteomalacia defect
Excessive unmineralized osteoid; bad quality bone
MCC of Rickets/OM
Vitamin D deficiency
Osteomalacia lab values (Ca, Phos, PTH, Alk Phos)
Low Ca and Phos (low vitD) High PTH High Alk Phos (osteoblasts are driven by PTH. They are still working fine)
Osteoporosis is a reduction in
Trabecular bone mass (endosteal and periosteal resorption)
3 major Risk factors for osteoporosis
weight bearing exercise, menopause, Age
Effect of estrogen on bone development
Estrogen inhibits RANK, Loss of estrogen after menopause = more active osteoclasts
2 fracture-related complications of osteoporosis
Vertebral compression Fx Hip Fx
besides vertebral fractures which vertebral complications do osteoporosis pts have
Kyphosis and decreased height
Osteoporosis labs (Ca, Phos, PTH, alk phos)
All normal! Normal labs in the face of bone pain distinguishes this from osteomalacia
Paget disease of bone underlying problem
Imbalance b/w osteoblasts and osteoclasts (too much), viral infection, genetics
paget disease progression
Overactive osteoclasts –> osteoclasts start burning out –> osteoblasts activate –> lay down poor structure bone
A 58-year-old male patient reported to the dental hospital with a complaint of difficulty in vision.
History revealed that there were swellings in the skull bones, which started 6 years back. All swellings gradually increased in size. X-Ray skull attached. Diagnosis?

Pagets
4 classic SSx of paget’s disease of bone
Bone Pain Hearing loss/ Vision changes Increasing hat size Coarsening of facial features
Characteristic lab abnormality in paget’s disease
Isolated elevated ALk Phos with everything else normal
histology of paget’s
mosaic pattern of lamellar bone














