Ch 26 - Bones, Joints, Soft Tissue Flashcards by Garrison Starrett

What are the swan-neck and boutonnière deformities seen in rheumatoid arthritis?

Swan-neck - PIP extension + DIP flexion

Boutonnière - PIP flexion + DIP extension

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Most common benign bone tumor

Osteochondroma (exostosis)

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Deviation (radial/ulnar) seen in wrist and fingers in rheumatoid arthritis

Radial - wRist

ulNar - fiNgers

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Treatment of giant cell tumor (osteoclastoma)

Curettage

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Uterine leiomyomas + renal cell carcinoma = __________

Fumarate hydratase enzyme deficiency

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Mutation in myxoid liposarcoma

t(12;16) - chromosome 12q (MDM2 gene - potent inhibitor of p53)

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How to diagnose osteoporosis

DEXA scan

No labs can diagnose

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Central fibrinoid necrosis surrounded by palisading epithelioid histiocytes
Arise in skin (ulnar aspect of forearm) and visceral organs

Rheumatoid nodules

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Most likely malignant bone tumor in adults vs kids

Adults - chondrosarcoma

Kids - osteosarcoma

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Sporadic forms of this tumor exhibit decreased EXT1 and EXT2

Osteochondroma

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In ankylosis spondylitis, 90% are positive and very sensitive for ______

HLA-B27

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Most common mesenchymal neoplasm of the hand

Tenosynovial giant cell tumor

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Monostotic (involvement of single bone) fibrous dysplasia appearance on radiograph

Ground glass appearance with well defined margins

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Mutation and inheritance of achondroplasia

Gain of function in FGFR3

Autosomal dominant

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Largest category of adult sarcomas

Undifferentiated pleomorphic sarcoma (UPS)

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Ends of long bones are bulbous (Erlenmeyer flask deformity) in what disease?

Osteopetrosis

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Most adult _______ have complex karyotypes, tend to be pleomorphic, and are genetically heterogenous with a poor prognosis

Sarcomas

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Small, round blue cells with scant cytoplasm is seen in _______

Ewing sarcoma

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Most common soft tissue sarcoma of childhood/adolescence

Rhabdomyosarcoma (alveolar and embryonal)

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Baker cyst is a synovial cyst (herniation of synovium through joint capsule) seen in what body region and disease?

Popliteal space

Rheumatoid arthritis

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Mutations in rheumatoid arthritis

HLA-DRB1 - shared epitope
PTPN22 gene
HLA-DR4

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Generalized osteitis fibrosa cystica (von Recklinghausen disease of bone) seen in what broader disease?

Hyperparathyroidism

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Deficiency seen is osteopetrosis

Carbonic anhydrase 2 (CA2) deficiency

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Most common neoplasm in females

Uterine leiomyoma

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_________ 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

Ch 26 - Bones, Joints, Soft Tissue Flashcards

(75 cards)