Ch 26 - Bones, Joints, Soft Tissue Flashcards
What are the swan-neck and boutonnière deformities seen in rheumatoid arthritis?
Swan-neck - PIP extension + DIP flexion
Boutonnière - PIP flexion + DIP extension
Most common benign bone tumor
Osteochondroma (exostosis)
Deviation (radial/ulnar) seen in wrist and fingers in rheumatoid arthritis
Radial - wRist
ulNar - fiNgers
Treatment of giant cell tumor (osteoclastoma)
Curettage
Uterine leiomyomas + renal cell carcinoma = __________
Fumarate hydratase enzyme deficiency
Mutation in myxoid liposarcoma
t(12;16) - chromosome 12q (MDM2 gene - potent inhibitor of p53)
How to diagnose osteoporosis
DEXA scan
No labs can diagnose
Central fibrinoid necrosis surrounded by palisading epithelioid histiocytes
Arise in skin (ulnar aspect of forearm) and visceral organs
Rheumatoid nodules
Most likely malignant bone tumor in adults vs kids
Adults - chondrosarcoma
Kids - osteosarcoma
Sporadic forms of this tumor exhibit decreased EXT1 and EXT2
Osteochondroma
In ankylosis spondylitis, 90% are positive and very sensitive for ______
HLA-B27
Most common mesenchymal neoplasm of the hand
Tenosynovial giant cell tumor
Monostotic (involvement of single bone) fibrous dysplasia appearance on radiograph
Ground glass appearance with well defined margins
Mutation and inheritance of achondroplasia
Gain of function in FGFR3
Autosomal dominant
Largest category of adult sarcomas
Undifferentiated pleomorphic sarcoma (UPS)
Ends of long bones are bulbous (Erlenmeyer flask deformity) in what disease?
Osteopetrosis
Most adult _______ have complex karyotypes, tend to be pleomorphic, and are genetically heterogenous with a poor prognosis
Sarcomas
Small, round blue cells with scant cytoplasm is seen in _______
Ewing sarcoma
Most common soft tissue sarcoma of childhood/adolescence
Rhabdomyosarcoma (alveolar and embryonal)
Baker cyst is a synovial cyst (herniation of synovium through joint capsule) seen in what body region and disease?
Popliteal space
Rheumatoid arthritis
Mutations in rheumatoid arthritis
HLA-DRB1 - shared epitope
PTPN22 gene
HLA-DR4
Generalized osteitis fibrosa cystica (von Recklinghausen disease of bone) seen in what broader disease?
Hyperparathyroidism
Deficiency seen is osteopetrosis
Carbonic anhydrase 2 (CA2) deficiency
Most common neoplasm in females
Uterine leiomyoma
_________ seropositivity is more common in juvenile idiopathic arthritis (JIA) than in rheumatoid arthritis
Antinuclear antibody
Most common inherited disorder of connective tissue
Osteogenesis imperfecta (brittle bone disease)
Mass of edematous synovium, inflammatory cells, granulation tissue, and fibroblasts that grows over articular cartilage and causes erosion.
What disease is this seen in?
Pannus
Rheumatoid arthritis
All bone-forming tumors produce __________ or _________
Unmineralized osteoid matrix or mineralized woven bone
Inheritance of type I vs type II osteogenesis imperfecta
Type I - autosomal dominant
Type II - mostly autosomal recessive (but can be autosomal dominant/new mutations)
Component of bone matrix (extracellular component of bone) that is always abnormal in adults
Woven bone
Metastatic tumors to bone may appear as lytic (bone destroying) or blastic (bone forming). What tumor is predominantly blastic?
Prostatic adenocarcinoma
Variant of embryonal rhabdomyosarcoma with the best outcome of all subtypes
Sarcoma botryoides
Ollier disease and Maffucci syndrome are associated with what bone tumor?
Chondroma
Osteogenesis imperfecta - type I or II collagen disease?
Type 1
Codman triangle (triangular shadow between cortex and raised end of periosteum) is characteristic but not diagnostic of what bone tumor?
Osteosarcoma
Group of diseases associated with HLA-B27
Seronegative spondyloarthropathies
Mutation in nodular fasciitis
t(22;17)
Germline loss of function of EXT1 or EXT2 and loss of remaining wild type chondrocytes of the growth plate is seen in _______
Multiple Hereditary Exostosis Syndrome
Mutations in osteogenesis imperfecta
Mutations of COL1A1 and COL1A2 (α1 and α2 chains of type I collagen)
Rank - transmembrane receptor activator for NFκB expressed on _______ precursors
Osteoclast
Frequency of fibrous cortical defect (metaphysical fibrous defects)
Extremely common, seen in 30-50% of children > 2
Hyperparathyroidism leads to significant skeletal changes related to unabated ________ activity
Osteoclast
Osteitis deformans (Paget disease of bone) hallmark morphology (seen in sclerotic phase)
Mosaic pattern of woven and lamellar bone
Most common skeletal dysplasia
Achondroplasia
Mutation seen in Ewing Sarcoma
t(11;22)(q24;q12) -> EWS-FLI1 (in-frame fusion of EWS gene on chromosome 22 to FL1 gene on chromosome 11)
Disease defined by decreased bone resorption with diffuse symmetric skeletal sclerosis due to impaired formation/function of osteoclasts
Osteopetrosis
Type of ossification responsible for development of long bones
Affected in achondroplasia (if so what mutation)?
Endochondral ossification
Defective in achondroplasia, activation mutations in FGFR3
Tumor presenting with severe nocturnal pain due to osteoblast production of PGE2 and is relieved by aspirin
Osteoid osteoma
Disease with increased serum ALK phosphatase (most common cause of isolated elevated ALP)
Paget disease of bone (osteitis deformans)
In reactive arthritis (Reuter syndrome), 80% are positive for HLA-B27.
What will be seen in a joint tap?
Sterile synovial fluid (no bacteria in joint space)
Frequency of liposarcoma
One of the most common sarcomas of adulthood
Synovitis + pannus defines _____
Rheumatoid arthritis
McCune Albright is a polyostotic disease associated with cafe-au-lait skin pigmentations and endocrine abnormalities, especially precocious puberty and is due to GNAS mutation in embryogenesis. It is seen in ______
Fibrous dysplasia
Joint disease presenting with morning joint stiffness and pain that worsens with use
Osteoarthritis
Tumor with:
FOXO1 fusion to PAX3 or PAX7
t(2;13) or t(1;13)
Alveolar rhabdomyosarcoma
Most common overall cause of infectious arthritis
Staphylococcus aureus
Most common form of skeletal malignancy
Metastatic tumors to bone
RB (70% of sporadic) increases risk of this bone tumor 1000 fold
Osteosarcoma
Most common types of osteoporosis
Senile
Postmenopausal
Benign tumor likened to localized developmental arrest
All components of bone present but don’t differentiate into mature structures
Fibrous dysplasia
t(x;18) -> SS18 - SSX1/SSX2/SSX4 seen in ______
Synovial sarcoma
Which digits does superficial fibromatosis affect?
4th and 5th digits of the hand
IDH1 and IDH2 mutations seen in _______
Chondroma
Amplification of 12q13-q15 seen in ______
Well-differentiated liposarcoma
Most common soft tissue tumor of adult hood
Lipoma
Many autoantibodies in rheumatoid arthritis are specific for ________
Citrullinated peptides (CCPs)
Which sarcoma is positive for epithelial markers (e.g. keratins), distinguishing it form most other sarcomas
Synovial sarcoma
McCune Albright syndrome is a polyostotic disease
What is the mutation and most common clinical presentation?
GNAS1 mutation
Precocious puberty
Rare complication of polyostotic (involvement of multiple bones) fibrous dysplasia
Malignant transformation of lesion into sarcoma
HLA-B27 and HLA-Cw6 confer susceptibility for ____
Presents with DIP involvement -> “pencil in cup” deformity
Psoriatic arthritis
Most common type of joint disease
Osteoarthritis (degenerative joint disease)
RANKL - expressed on _______ and marrow stromal cells
Osteoblasts
In gout, purine/pyrimidine anabolism/catabolism -> uric acid
Purine catabolism
Pathognomonic lesion of gout described by masses of urates surrounded by intense mononuclear inflammation with foreign body giant cells
Appear as white, chalky deposits
Tophi
Type of ossification responsible for development of flat bones and facial bones
Affected in achondroplasia (if so what mutation)?
Intramembranous ossification
Unaffected in achondroplasia
