Musculoskeletal, CT & Skin patho Flashcards
In all 4 cases of Osteogenesis imperfecta, the cause is ……
defect in the synthesis of type I collagen (abnormal pro-1(1) or pro-2(1) chains)
* It is inherited as an autosomal dominant trait
What is defect caused by Osteogenesis imperfecta in each of the following organs:
- Bone
- Eye
- Teeth
- Ears
- Heart
- Skin
- Woven bone instead of trabecular, abnormal arrangement of collagen fibers leading to lax ligaments, fractures
- Sclera with blue hue
- Small & discolored (dentinogenesis imperfecta)
- Deafness due to fractured ossicles
- Mitral valve prolapse
- Abnormally thin dermis
Define osteopetrosis
Hereditary disorder, characterized by increased thickness of cortical bone and narrow medullary bone
- Bone is brittle
- Membranous bone are not affected
- AKA Albers-Schonberg disease
Osteopetrosis is associated with …..
Blindness, deafness, anemia, cranial nerve palsies, hydrocephalus
Osteopetrosis is inherited via ……
autosomal dominant and recessive pattern
The main cause of osteopetrosis is …….
the inability of the osteoclasts to resorb bone
* ALP is elevated
Achondroplasia is the best known form of ……
It is characterized by …………
dwarfism
- short limbs (due to defect in epiphyseal bone formation), frontal bossing, saddle nose & large body
- Autosomal dominant inheritance
Define osteochondromatosis
Hereditary exostoses
* Example is Gardner syndrome
What are the causes for osteoporosis?
Estrogen deficiency, low density of bone, lack of exercise, nutritional factor, endocrinopathies
What are the clinical features of osteoporosis?
- Xray Shows ……
- Serum values are …….
Bone pain & spontaneous fractures, radiolucency of bone
* normal Ca, Phosphorus. ALP serum level is variable
Most susceptible bones to fracture due to osteoporosis are …….
vertebrae & femoral neck
* There is thinning of cortical bone in all bones, but the bone histology is normal
Osteomalacia and rickets are both caused by …
Vit D deficiency (from chronic renal insufficiency, intestinal malabsorption, or dietary deficiency) leading to disorder of osteoid mineralization.
Rickets occur in children prior to …….
closure of epiphysis, causing deformation & bowing of legs, fractures and pain
Rachitic rosary is ….
prominent knobs of bone at the costochondral joints of rickets patient
* Deficiency of Ca results in lack of mineralization and an overgrowth of costochondral joint cartilage.
Serum findings in a patient with osteomalacia are …..
Low Ca and phosphorus, ALP is elevated (which distinguishes this syndrome from osteoporosis)
* There is diffuse radiolucency of bone on Xray
What are the clinical features of Paget disease?
bone pain, deformity and fractures, affecting many bones (polyostotic), increased warmth of the skin overlying the affected bone
- X ray shows enlarged radiolucent bones
- ALP is very high
- Skull enlargement is a classic sign. Impingement of the nerves may cause deafness or facial pain
In Paget disease, the disease progresses from ….. to ……
The resorbed bone is replaced by …….
Osteolytic to osteoblastic
* Vascular CT (which mineralizes later), with “mosaic” (or jigsaw) rather than trabecular pattern, with persistent osteoid seam (new non mineralized bone) at the margins
What are the two types of osteomylitis?
- Pyogenic: caused by “Staph”, Strep, gonococci, H. influenzae
* Pseudomonas is common in IV users & diabetics
* Salmonella is common in sickel cell patients - Tuberculous: in 1% of TB cases. Caseating granulomas of bone
What are the specific findings of pyogenic osteomylitis?
Necrotic sequestrum, surrounded by new bone (involucrum).
* Brodie abscess is localized abscess withing the bone
Osteoma is …….
Hyperostosis frontalis interna is …….
benign tumor of bone.
* osteoma extending in the orbit or the sinuses
Osteoid osteoma is ……
benign tumor of the diaphysis of long bones
Osteoblastoma is …..
Similar to osteoid osteoma, often in the vertebrae
* Could be malignant
Osteosarcoma is …..
What are the clinical features?
What is the prognosis?
malignant bone tumor, associated with Paget disease. Often in the metaphysis ends of bones
- Localized pain and swelling, weight loss, anemia
- Prognosis is poor with possible lung metastasis
Codman Triangle is …….
Elevated periosteal bone due to underlying tumor
* It is a classic xray sign for osteosarcoma
What is the microscopic finding of osteosarcoma?
anaplastic cells with osteoid that is variably mineralized. May contain collagen or cartillage, or could be sclerotic
Osteochondroma is ……
exostosis from misdirected growth of growth plate
Enchodndroma is …..
solitary benign growth of cartilage, inside the bone
Chondrosarcoma is …….
Usually found in …….
malignant tumor of chondroblasts, slower growing than osteosarcoma. There is atypical chondrocytes and chondroblasts
- spine, pelvis, upper limbs
- There is pain and swelling
Giant cell tumor is …….
malignant tumor containing multinucleated giant cells and atypical stromal cells
- Rare
- There is expanding area of radiolucency without a sclerotic rim on Xray, usually in the epiphyseal region of long bones
Ewing sarcoma is ……..
Most common locations are …….
What are the clinical features?
malignant neoplasm of undifferentiated mesenchymal cells within the bone marrow
- Rare
- Commonly in the Metaphyses, pelvis
- Tumor erodes through the cortex and invade the surrounding tissue. There is concentric layers of new bone (onion skin)