Bone Pathologies Flashcards
What are the most common congenital bone pathologies?
1.) failure of the development of the bone-absence of clavicle, or distal thumb phalange connected to metacarpal bone (example). 2.) Supernumerary bones- cervical or lumbar ribs (unpleasant symptoms in extremities, decreases flexibility), extra digits, 3.) Fusion of adjacent bones- syndactyly (mom can drink too much and give syndactyly or a recessive gene)
What can occur in achondroplastic bones?
morphologic abnormalities in epiphyseal plates of long bones- dwarfism
Symptoms of primordial people?
Smallest people on earth! Can be only 31 cm=adult. Can be from a recessive gene, brains can be different in structure- no corpus callosum, average intelligence, small lower jaw, higher risk of brain aneurysm (berry aneurysm)- can die young
What is the most common lethal form of dwarfism?
Thanatophoric
What occurs in thanatophoric dysplasia?
small chest cavities cause respiratory insufficiency-lungs don’t have space to expand, they die
What occurs in osteogenesis imperfecta?
brittle bone syndrome- synthesis of collagen type 1 is affected
What occurs in subtype 1 of osteogenesis imperfecta?
AUTOSOMAL DOMINANT- normal stature, fragile bones, joint laxity, blue sclera, hearing impairment (bony labyrinth in middle ear is abnormal which changes conduction of sound)
What occurs in subtype 2 of osteogenesis imperfecta?
AUTOSOMAL RECESSIVE- most lethal- pre-natally or shortly after birth, blue sclera- NOT COMPATIBLE WITH LIFE!
What occurs in subtype 3 of osteogenesis imperfecta?
AUTOSOMAL DOMINANT- multiple fractures, short stature and growth retardation, progressive kyphoscoliosis- MOST PROBLEMATIC FOR PEOPLE WHO SURVIVE THROUGH OSTEOGENESIS
What occurs in subtype 4 of osteogenesis imperfecta?
AUTOSOMAL DOMINANT-short statures, moderate skeletal fragility,
Which pathology has increased porosity of the bone with resultant increased fragility?
osteoporosis- senile is the most common form
Why do women have osteoporosis at an older age?
decrease in estrogen after menopause, increase in IL-1, IL-6, TNF levels, increased levels of RANK, RANKL, increased osteoclast activity
Why does osteoporosis occur in aging (not because of post-menopausal occurrences)
decreased replicative activity of osteoprogenitor cells, decreased synthetic activity of osteoblasts, decreased biological activity of matrix bound growth factors, reduced physical activity
Why do you see osteoporosis develop in women before men?
Estrogen drops in women before testosterone drops in men. Men can get osteoporosis when their testosterone drops, usually later in life than women do.
What are other reasons for osteoporosis?
increased cortisol, hyperthyroidism, calcium deficiency, and significant inactivity
What is caused by osteitis fibrosa cystica?
primary or secondary hyperparathyroidism
What are the symptoms of osteitis fibrosa cystica?
osteolytic lesions, “brow tumor” of the bone: cystic spaces, lined by multinucleated osetoclasts, filled with vascular stroma, brown in color due to hemorrhage.
What could osteitis fibrosis cystica mimic?
osteoporosis
What is usually wrong with elderly people’s diet that results in oseoporosis?
They do no eat enough protein (they do not have the appetite for it) or they do not absorb enough. Problems with absorption could be that they do not have enough digestive enzymes for protein.
What labs are commonly seen in OFC?
high PTH, high Ca, low P, high serum alkaline phosphatase
What presents in osteomalacia?
vitamin D deficiency in adults, defective calcification of osteoid matrix, diffuse radiolucency, it can mimic osteoporosis
What presents in rickets?
vitamin D deficiency in children, decreased calcification AND excess accumulation of osteoid, thickening of epiphyseal growth plates, craniotabes=thinning and softening of occipital and parietal bones, delayed closing of fontanelles, pigeon breast (protrusion of the sternum), rachitic rosary: thickened costochondral junctions causing string of beads appearance, harrison groove= depression along the line of diaphragm insertion, bowed legs
Osteitis deformans presents with what? What bones are most likely affected?
abnormal bone structure, most commonly affecting the spine, pelvis, skull, femur, tibia
Physiologically, what happens in osteitis deformans- paget’s disease?
increased osteblastic AND osteoclastic activity