Musculoskeletal, Skin and Connective Tissue Flashcards
Locally aggressive benign bone tumor, often around the knee. Soap bubble appearance on X Ray, seen in 20-40 year olds. Produces RANK ligand
Giant Cell tumor
Mature bone with cartilaginous cap (chondroid). Most often seen in males less than 25 years old.
Osteochondroma - rarely transforms to chondrosarcoma
Bone tumor with bimodal distribution: primary in 10-20 year olds, then again in > than 65 year olds. Paget disease of bone is the predisposing factor. Seen in the metaphysis of long bones. What is it and how does it present on X Ray?
Osteosarcoma, X ray sign = codman triangle.
“Onion skin” periosteal reaction in bone, commonly appearing in diaphysis of long bones in boys younger than 15. What genetic translocation is it associated with?
Ewing sarcoma - t(11;22)
Classic presentation of osteoarthritis
Pain in weight bearing joints after use, especially old and obese people (gets worse as the day goes on) improving with rest. Knee cartilage is lost medially so you become bowlegged. Non-inflammatory so no systemic symptoms.
Classic presentation of RA
Morning stiffness in females that improves with ~30 mins of getting up and moving around. Especially affects PIP and MCP joints. Symmetric joint involvement and systemic symptoms: fever, weight loss, pleuritic, pericarditis.
Deep bone pain, especially bad at night, usually in adolescent men
Osteoid osteoma
Painful, progressively enlarging centrally located bone tumor (pelvis, shoulder, ribs) of adults
Chondrosarcoma
Painful tumor of adolescents; sheets of compact cells within “chicken-wire” mineralized matrix causing spotty calcifications in lucent epiphyseal lesions around the knee
Condroblastoma
Non-neoplastic expansile lesions in patients with severe hyperparathyroidism
Osteitis fibrosis cystica
Small round blue cell childhood bone tumor with abundant glycogen and CD99 reactivity
Ewing sarcoma
Painful progressively enlarging lytic and blastic mass distal femur lifting periosteum forming a Codman triangle; with lung metastasis
Osteosarcoma
Most common soft tissue mass
Lipoma
Most common soft tissue sarcoma; whorled storiform pattern
Undifferentiated pleomorphic sarcoma
Most common soft tissue sarcoma of children and young adults
Rhabdomyosarcoma
Most frequent neoplasms of infancy and childhood
Hemangioma
Cytogenetic abnormalities on chromosome 15 affect proteins involved in tissue repair like FGF-7
Nodular fascitis
Chronic inflammatory disease of spine and sacroiliac joints, uveitis, aortic regard. “Bamboo Sign” (vertebral fusion)
Ankylosing spondylitis
Mechanical joint wear and tear that destroys articular cartilage. Usually presents in old age in weight bearing joints and classically spares the MCP joint.
Osteoarthritis.
Conjunctivitis, chlamydial urethritis and arthritis
Reactive Arthritis - due to GI or chlamydia infections.
Herberden nodes (DIP) and Bouchard nodes (PIP) with MCP sparing
Osteoarthritis
Short arms and legs with normal body size. Disease, genetic defect and mode of inheritance.
Achondroplasia
Activating mutation in Fibroblast growth factor receptor
Autosomal Dominant
Blue sclerae, loose joints, poor hearing, recurrent long bone fractures. Disease and mutation in which protein?
Osteogenesis Imperfecta
Collagen I
Why would 21-a hydroxylase deficiency lead to short stature?
Males with this deficiency get precious puberty and may also have premature closure of the epiphyseal growth plate. This is called androgenital syndrome
What is the most likely complication in a fracture that fails to heal properly?
Psedoarthritis - joint tissue forms around the fracture due to excessive movement, inadequate blood supply, etc and joint tissue must later be removed surgically for healing to occur
Multiple lytic lesions plus keratin positive cells suggest what?
Metastatic carcinoma, the most common tumor of bone. It most often goes to the vertebral bones
Dense, misshapen bones with obliteration of the marrow space. Histologically disorganized bony trabeculae and retention of primary spongiosa. Disease, protein defect and mode of inheritance.
Osteopetrosis, marble bone disease. Osteoclast malfunction. Autosomal Recessive.
Vitamin D deficiency in adults, leading to soft bones is due to BLANK
Osteomalacia, due to impaired mineralization of osteoid.
Elevated Alk Phos level, most common in adolescents 10-20 years old, presents with elevated periosteum, what gene is most likely mutated?
Osteosarcoma - Rb tumor suppressor.
What is the pathology of Legg-Calvé-Perthes disease?
Avascular necrosis of the femoral head
Where is osteomyelitis most commonly found?
Metaphysis of long bone is the most common site for spread of hematogenous osteomyelitis because it has the best blood supply.
What is the pathogenesis of pain/joint stiffness and DIP enlargement that is relieved with rest?
This is osteoarthritis - degeneration of articular cartilage
What is the pathogenesis of pannus formation in RA?
Chronic inflammation of the synovium and synovial lining cell hyperplasia
Necrotic bone embedded in a fibrinopurulent exudate in osteomyelitis
Sequestrum
What are the immune findings in RA?
Polyclonal antibodies against Fc portion of IgG
How does primary hyperparathyroidism impact bone?
PTH stimulates osteoclasts to resorb bone and this increased bone resorption results in multiple bone cysts and pathological fractures.
Localized disorder of bone remodeling that is caused by increased osteoclast and osteoblast activity. Bone gets all disorganized like a jigsaw puzzle. Serum levels are NORMAL. Classically presents with increasing hat size and hearing loss.
Paget disease of bone - osteitis deformans
Paget disease of bone increases risk of developing BLANK
Osteogenic sarcoma
Ankylosing spondylitis presents with vertebral fusion and low back pain, it is associated with which HLA?
HLA-B27
What are some signs of juvenile arthritis?
Some systemic symptoms like fever, rash, hepatosplenomegaly, lymphadenopathy, pleuritis, and anemia. Many kids with juvenile arthritis also get rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, and other connective tissue diseases.
What is going on pathologically in osteopenia?
Increased osteoclast activity
What is the translocation in the disease with small blue cells and “onion skin” periosteal reaction in bone.
t (11;22)
BLANK develops after blunt trauma to muscle and soft tissue. Presents as a suspicious mass (reactive bone formation) but is completely benign.
Myositis Ossificans
Most common soft tissue mass and what is it composed of?
Lipoma - well differentiated adipocytes, histologically identical to adipose tissue
What is the most frequent sarcoma encountered as a result of radiation therapy?
Malignant fibrous histiocytoma
Neoplasm with a biphasic histological pattern consisting of spindle-shaped mesenchymal cells and cuboidal epithelial-like cells.
Synovial sarcoma
Tophus
Chronic accumulation of uric acid crystals in Gout leads to the formation of nodules (tophi) that contain granuloma-like aggregates of macrophages. Found in cartilage, joint soft tissue or bone marrow.
Hyaline cartilaginous tumor that produces bulbous swelling and tends to undergo malignant transformation to become chondrosarcoma.
Enchondromatosis, Ollier disease.
Chronic glucocorticoid use is a risk factor for development of:
Osteoporosis.
