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FA complete review part 2 Pathology

What is Achondroplasia? Failure of longitudinal bone growth leading to short limbs
What type of ossification is failed in Achondroplasia? Endochondral ossification
The affectation of membranous ossification in Achondroplasia, leads to: Large head relative to limbs
What gene is affected in Achondroplasia? Fibroblast growth factor receptors 3 (FGFR3)
What is the role of FGFR3 when activated? Inhibition of chondrocyte proliferation
What is mode of inheritance of Achondroplasia? Autosomal dominant with full penetrance
What is the most common cause of dwarfism? Achondroplasia
Achondroplasia is the most common cause of: Dwarfism
What is associated with increased risk of Achondroplasia? Advanced paternal age
What pathology is associated with advanced paternal age? Achondroplasia
Is Achondroplasia associated with maternal or paternal advance age? Paternal
Definition of Osteoporosis: Trabecular (spongy) and cortical bone lose mass and interconnection despite normal bone mineralization and lab values
How are serum Ca2+ and PO4 -3 in Osteoporosis? Normal leves
Another way to refer to trabecular bone? Spongy bone
Trabecular and cortical bone loss as well interconnections, despite normal serum levels of calcium and phosphate. Dx? Osteoporosis
What are the MCC of Osteoporosis? Increased bone resorption related to decreased estrogen levels and old age
Osteoporosis is commonly secondary to which medications? Steroids, alcohol, anticonvulsants, anticoagulants, thyroid replacement therapy
What are medical conditions that may cause Osteoporosis eventually? Hyperparathyroidism, Hyperthyroidism, Multiple myeloma, and malabsorption syndromes.
How is Osteoporosis diagnosed? 1. DEXA test check for bone density at lumbar spine, total hip, and femoral neck, with T-score of less or equal to 2.5 or, 2. Fragility fracture at hip or vertebra
At what age are women recommended to to SOteporiss screening? 65 or older
What is the recommended prophylaxis for Osteoporosis? Regular weight-bearing exercise and adequate Ca2+ and Vitamin D intake throughout adulthood
What are common treatment medications for Osteoporosis? Bisphosphonates, teriparatide, SERMs, and rarely calcitonin; Denosumab
What condition is treated with Denosumab? Osteoporosis
What is the MOA of Denosumab? Monoclonal antibody against RANKL
Why does DEnosumab attack RANKL secreted by osteoblasts? RANKL interacts with RANK receptors on osteoclasts and increase their activity
Common complication of Osteoporosis Vertebral compression fractures
What is the clinical presentation of vertebral compression fractures? Acute back pain, loss of height, and kyphosis
What other, rarely, fractures may be seen along with Vertebral compression fractures, in osteoporotic patients? Femoral neck fracture and Distal Radius (Colles) fracture
What is the name given to a Distal Radius fracture? Colles fracture
What is Osteopetrosis? Failure of normal bone resorption due to defective osteoclasts
Which bone cells are defective in Osteopetrosis? Osteoclasts
Description of bones in Osteopetrosis? Thickened, dense bones that are prone to fracture
How can certain mutations lead to development of Osteopetrosis? Impair ability of osteoclast to generate acidic environment necessary for boner resorption
What is the result of the overgrowth of cortical bone that fills marrow space in Osteopetrosis? Pancytopenia and extramedullary hematopoiesis
Why are palsies commonly seen in Osteopetrosis? Due to narrowed foramina
What are some consequences of the narrowed foramen in Osteopetrosis? Cranial nerve impingement and palsies
What is the X-ray description of bones in Osteopetrosis? Diffuse symmetric sclerosis
What are terms commonly used in X-ray findings of Osteopetrosis? Bone-in-bone, "stone bone"
What is the potential treatment option for Osteopetrosis? Bone marrow transplant
Defective mineralization of osteoid or cartilaginous growth plates in adults. Osteomalacia
What is denomination of osteomalacia in children? Rickets
What is the most common cause of Osteomalacia/rickets? Vitamin D deficiency
What X-rays findings of Osteomalacia? 1. Osteopenia 2. "Looser zones" 3. Epiphyseal widening and, 4. Metaphyseal cupping/fraying in rickets
What is a pathologic finding or feature of Rickets? Bow legs (genu varum), bead-like costochondral junctions (rachitic rosary), and craniotabes (soft skull).
What is another name for Paget disease of bone? Osteitis deformans
Definition of Paget disease of bone: Localized disorder of bone remodeling caused by increased osteoclastic activity followed by increased osteoblastic activity that forms poor-quality bone.
Osteoclastic activity --> Osteoblastic activity ===> Dx? Paget disease of bone
What serum level is increased in Paget disease of bone? ALP
What is the most common reason for the elevation of ALP in blood levels? Hyperactivity of osteoblasts
- Mosaic pattern of woven and lamellar bone - Long bone chalk-stick fractures - High-output heart failure Features of Paget disease of bone
What causes the high-output heart failure in Osteitis deformans? Increased blood flow from increased arteriovenous shunts
What is an important elevated risk of Paget disease of bone? Increased risk of Osteogenic sarcoma
Which malignancy is commonly a higher risk of development in Paget disease of bone (osteitis deformans)? Osteogenic sarcoma
What are two common complaints or patient indications that may lead to diagnosis of Paget disease of bone? 1. Increased hat size 2. Hearing loss
Why is there hearing loss in Paget's disease of bone? Due to Auditory foramen narrowing
What are the 4 stages of Paget disease of bone? 1. Lytic -- OsteoClast 2. Mixed -- Osteoclast + osteoblast 3. Sclerotic -- OsteoBlast 4. Quiescent-- minical osteoclast/osteoblast activity
Which Paget disease of bone stage is purely osteoclast driven? Lytic
What is the the 1st stage of Paget disease of bone? Lytic
What cells are involved in the Sclerotic stage of Paget disease of bone? Osteoblast
Minimal osteoclast/osteoblast activity describes which Paget disease of bone stage? Quiescent
What is the treatment of Paget disease of bone? Bisphosphonates
What is Osteonecrosis? Infarction of bone and marrow, usually very painful
What is the most common site for Osteonecrosis? Femoral head
Why the Femoral head the most common site for avascular necrosis? Due to insufficiency of medial circumflex femoral artery
What is another way to refer to osteonecrosis? Avascular necrosis
List of common causes for Osteonecrosis: 1. Corticosteroids 2. Alcoholism 3. Sickle cell disease 4. Trauma 5. "the Bends" (Caisson/Decompression disease), 6. Gaucher disease 7. Slipped capital femoral epiphysis 8. Legg-Calve-Perthes disease
Is osteonecrosis a painful or painless condition? Painful
Which disorder has normal lab values, only with a decreased bone mass? Osteoporosis
Which is the only lab value that may be decreased in Osteopetrosis? +/- slight decrease in serum Ca2+
Dense, brittle bones. Ca2+ decrease in severe, malignant disease. Dx? Osteopetrosis
Abnormal "mosaic" bone architecture. Dx? Paget disease of the bone
Which serum lab value(s) are abnormal in Paget disease of bone? Elevated ALP
Which are the lab values measured in common bone disorders? Serum Ca2+, Phosphate, ALP, and PTH
"Brown tumors" due to fibrous replacement bone, subperiosteal thinning. Osteitis fibrosa cystica
Idiopathic or PTH hyperplasia, adenoma, carcinoma. Associated with Osteitis fibrosa cystica. Primary hyperparathyroidism
What is the primary lab value abnormality in Osteitis fibrosa cystica/Primary HyperPTH? Elevated PTH
Which bone disorder main lab value change is an elevated/increased PTH ? Osteitis fibrosa cystica
What are the changes in lab values of Osteitis fibrosa cystica/ Primary hyperPTH? Elevated PTH, ALP, and serum Ca2+, and decreased phosphate
Which is the only lab value decreased in Osteitis fibrosa cystica? Phosphate
Often as compensation of CKD (decreased phosphate excretion and products of activated Vitamin D). Dx? Secondary hyperparathyroidism
What is the main lab value change in Secondary hyper-PTH? Decreased serum Ca2+
Which bone disorder is indicated by an decreased serum Ca2+ level as its primary change? Secondary hyperparathyroidism
In Secondary hyper-PTH, which levels are elevated? Phosphate, ALP, and PTH
Elevated Phosphate, ALP, and PTH + decreased serum Ca2+ + Hx of CDK. Dx? Secondary hyperparathyroidism
Soft bones; vitamin D deficiency also causes secondary hyperparathyroidism. Dx? Osteomalacia/Rickets
Which is the only lab value that is increased in Osteomalacia or Rickets (children)? ALP
Which condition of the bones is seen with elevated ALP and decreased serum Ca2+, phosphate, and PTH? Osteomalacia/Rickets
Which important lab value is normalin Hypervitaminosis D? ALP
Caused by over-supplementation or granulomatous disease (sarcoidosis). Hypervitaminosis D
Which lab values are elevated in Hypervitaminosis D? Serum Ca2+ and phosphate
Is PTH elevated or decreased in hypervitaminosis D? Decreased
What is more common, Metastatic disease to the bone or Primary bone tumors? Metastatic disease to bone
List of BENIGN Primary bone tumors: 1. Osteochondroma 2. Osteoma 3. Osteoid osteoma 4. Osteoblastoma 5. Chondroma 6. Giant cell tumor
What is the most common benign bone tumor? Osteochondroma
What is the epidemiology of Osteochondromas? Males < 25 years old
What is the location for a Osteochondroma? Metaphysis of long bones
Which benign primary bone tumor is located at the metaphysis of long bones? Osteochondroma
What are features or characteristics of Osteochondroma? 1. Lateral bony projection of growth plate covered by cartilaginous cap 2. Rarely transforms to chondrosarcoma
An x-ray of the femoral bone shows lateral bony projections of growth plate covered by a cartilage cap in a 22 year old male patient. Dx? Osteochondroma
What is the epidemiology of Osteomas? Middle age
What is the common location for an Osteoma? Surface of facial bones
Which benign primary tumor is found in the surface of facial bones? Osteoma
What is the common associated condition with Osteoma? Gardner syndrome
A person with Gardner syndrome is often seen with what primary bone tumor? Osteoma
What is the approximate age in which Osteoid osteoma develop? In adults < 25 years old
Are males or females, most affected with Osteoid osteoma? Males
Osteoid osteoma affects mostly: Adult male of < 25 years of age
What is the location for an Osteoid osteoma? Cortex of long bones
Which type of primary bone tumor is found in the cortex of long bones? Osteoid osteoma
What are features and clinical signs of Osteoid Osteoma? 1. Presens as bone pain (worse at pm) that is relieved with NSAIDs 2. Bony mass (<2 cm) with radiolucent osteoid core
Bony mass on X-ray of a 19 year old male, that visits physician office due to severe pain at night located in the right humerus. Dx? Osteoid osteoma
What medications are used to relieve or control the pain in patients with Osteoid osteoma? NSAIDs
What is the location for an Osteoblastoma? Vertebrae
Which primary benign bone tumor is found in the vertebrae? Osteoblastoma
Osteoblastoma is malignant or benign? Benign
Malignant or benign. Osteochondroma? Benign
Malignant or benign. Osteoma? Benign
Malignant or benign. Osteoid osteoma? Benign
Malignant or benign. Chondroma? Benign
Malignant or benign. Giant cell tumor? Benign
Which two benign primary bone tumors have very similar histology? Osteoid sarcoma and Osteoblastoma
How does Osteoblastoma differ from Osteoid osteoma? Osteoblastoma is larger in size (> 2 cm), pain is non-responsive to NSAIDS, and located at the vertebrae.
Patient complains of severe pain in the "spinal column" that is not responding to ibuprofen. X-ray showed a 3 cm mass in the base of L2. Dx? Osteoblastoma
What is the location of a Chondroma? Medulla of small bones of hand and feet
Which primary (benign) bone tumor is found in the medulla of small bones of hand and feet? Chondroma
Benign tumor of cartilage in hands and feet. Chondroma
What is the epidemiology of Giant cell tumor? 20-40 years old
What is the location of Giant cell tumor? Epiphysis of long bones
What is the most common region in which a Giant cell tumor develops? Knee region
What are features and characteristics of Giant cell tumor ? - Locally aggressive benign tumor - Neoplati mononuclear cells that express RANKL and reactive multinucleated giant cells. "Osteoclastoma" - "Soap bubble" appearance on x-ray
x-ray finding. "Soap bubble" appearance in the epiphysis of a long bone (femur) near the knee? Giant cell tumor
Why is Giant cell tumor often referred as "Osteoclastoma"? Due to neoplastic mononuclear cells that express RANKL and reactive multinucleated giant (osteoclast-like) cells.
List of MALIGNANT Primary bone tumors: 1. Osteosarcoma (osteogenic carcinoma) 2. Chondrosarcoma 3. Ewing sarcoma
What is the epidemiology of Ewing Sarcoma? Boys < 15 years old
Among which ethnicity is Ewing sarcoma is most common? Caucasian
What is the most common location of a Ewing Sarcoma? Diaphysis of long bones, and pelvic flat bones
Which long bone is especially or more consistently affected by Ewing sarcoma? Femur
What malignant bone tumor is often found in the diaphysis of long bones, especially the femur? Ewing sarcoma
What other bones, besides the diaphysis of long bones, are affected by Ewing sarcoma? Pelvic flat bones
Histology of Ewing sarcoma: Anaplastic small blue cells of neuroectodermal origin (resemble lymphocytes)
Anaplastic small blue cells of neuroectodermal origin, that have certain resemblance to lymphocytes. Dx? Ewing sarcoma
What translocation is associated with Ewing sarcoma? t(11;22)
t(11;22). Dx? Ewing sarcoma
What is t(11;22) ? Fusion protein EWS-FLII
"Onion skin" periosteal reaction in bone Ewing sarcoma
What is an important gross feature of Ewing sarcoma that is view in x-ray? "Onion skin" periosteal reaction in bone
What is another name for Osteosarcoma? Osteogenic sarcoma
Osteosarcoma is peak incidence of primary tumor in: Males < 20 years
Osteosarcoma can be secondary to which disease or conditions? Paget disease of bone, bone infarcts, radiation, familial retinoblastoma, and Li-Fraumeni syndrome
What is the location of Osteosarcoma? Metaphysis of long bones
Which malignant primary tumor is often found in the metaphysis of long bones , especially in the knee region? Osteosarcoma
What are features and characteristics of Osteosarcoma? - Painful enlarging mass or pathologic fractures - Codman triangle - Pleomorphic osteoid-producing cells (malignant osteoblasts)
Which malignant bone tumor is associated with "malignant osteoblasts"? Osteosarcoma
Histology of Osteosarcoma: Pleomorphic osteoid-producing cells (malignant osteoblasts)
(+) Codman triangle. Dx? Osteosarcoma
What is the Codman triangle? Elevation of the periosteum under x-ray in Osteosarcoma
What feature in Osteosarcoma has a description of a "sunburst" pattern? Codman triangle
What is the location of a Chondrosarcoma? Medulla of pelvis and central skeleton
Which malignant primary bone tumor is located at the medulla of pelvis and central skeleton? Chondrosarcoma
Tumor of malignant chondrocytes? Chondrosarcoma
What is a Chondrosarcoma? Primary tumor of malignant chondrocytes
List of childhood musculoskeletal conditions: 1. Developmental dysplasia of the hip 2. Legg-Calve-Perthes disease 3. Osgood-Schlatter disease 4. Patellofemoral syndrome 5. Radial head subluxation 6. Slipped capital femoral epiphysis
What is Developmental dysplasia of the hip? Abnormal acetabulum development in newborns.
What is the major risk for development Dysplasia of the hip? Breech presentation
What are tests or maneuvers to assess developmental dysplasia of the hip? Ortolani and Barlow maneuvers
Idiopathic avascular necrosis of femoral head. Legg-Calve-Perthes disease
What is the presentation of Legg-Calve-Perthes disease? Presentas between 5-7 years wit insidious onset of hip pain that may cause child to limp.
Is Legg-Calve-Perthes disease more common in males or females? Males
What is another name for Osgood-Schlatter disease? Traction apophysitis
What is Osgood-Schlatter disease? Overuse injury caused by repetitive strain and chronic avulsion of the secondary ossification center of proximal tibial tubercle
Which condition of a child involves the Proximal Tibial tubercle injury due to repetitive strain and chronic avulsion? Osgood-Schlatter disease
What type of athletes or exercise training lead to Osgood-Schlatter disease? Running and jumping athletes
What is the most common age for Osgood-Schlatter disease? Adolescents after growth spur
What is the clinical presentation of Osgood-Schlatter disease? Progressive anterior knee pain
What is Patellofemoral syndrome? Overuse injury that commonly presents in young, female athletes as anterior knee pain.
What is the common action for exacerbation of Patellofemoral syndrome? Prolonged sitting or weight-bearing on a flexed knee
What is the treatment used for Patellofemoral syndrome? NSAIDs and thigh muscle training
What is another way to refer to Radial head subluxation? Nursemaid's elbow
What is a common elbow injury in children < 5 years? Radial head subluxation
What is the MCC of Radial head subluxation? Sudden pull on the arm leading to immature annular ligament slips over head of radius.
Injured arm held in extended/slightly flexed and pronated position. Dx? Radial head subluxation
Which ligament is involved in Nursemaid's elbow? Immature annular ligament
What is a classical presentation of Slipped capital femoral epiphysis? Obese young adolescent with hip/knee pain and altered gait.
What is the cause of Slipped capital femoral epiphysis? Increased axial force on femoral head leading to epiphysis displaces relative to femoral to femoral neck.
Created by: rakomi
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