Benign soft tissue lesions

Question 1

Mutation of PVNS

Answer 1

1p13

overexpression of CSF1 gene

Question 2

Answer 2

PVNS

hemosiderin stained multinucleated giant cells

Question 3

What is pigmented villonodular synovitis

Answer 3

locally aggressive neoplastic synovial disease

joint effusions, expansion of synovium and bony erosions

Question 4

30-40 yo with random knee joint pain and swelling, stiffness, recurrent atraumatic hemarthrosis, may see cystic erosions on CT

Answer 4

PVNS

Confirm with MRI, arthroscopy gold standard of dx (brownish/red inflamed synovium)

Question 5

Treatment options of PVNS

Answer 5

Observe if asymptomatic

CSF-1 receptor antagonist if really extensive disease

Synovectomy, can add external beam radiation

Total joint if degenerative

Question 6

What is synovial chondromatosis and treatment

Answer 6

a proliferative disease of the synovium associated with cartilage metaplasia and often results in multiple intra-articular loose bodies

observe if mild symptoms, synovectomy and loose body resection if pain and affecting ROM

Question 7

fatty intramuscular lesion, usually asymptomatic

Answer 7

lipoma

Question 8

Mass in childhood that flutuates in size, wormy pattern on MRI and may show calcifications (phleboliths)

Answer 8

hemangioma

most observe, NSAIDS

large painful lesions - ETOH sclerosis

if in hand - excise

Question 9

Middle aged person with slow growing asymptomatic mass, “string sign”

Answer 9

Neruilemomma aka peripheral nerve sheath tumor

encapsulated by perineurium

excise and save nerve

Question 10

Stain and mutations associated with neurilemoma

Answer 10

S100+, NFT2

histo: verocay bodies (nuclear palisading) with Antoni A (cellular) and Antoni B (myxoid)

Question 11

middle aged, superficial slow growing mass, entrapment type symptoms, loose wave enlongated cells with strandlike collagen

Answer 11

neurofibroma

lesion is nerve, only resect if symptomatic

Question 12

Neurofibromatosis

Answer 12

neurofibrillin defective (chrom 17), arises from schwann cell - loss of neurbifromen leads to increased RAS activity

cafe-au-lait sponts (coast of Cali), axillary freckling, Lisch nodules, AL tibial bowing, neurofibromas, kyphoscoliosis, intraspinal neurofibromas, dural extasia

Question 13

Risk of neurofibromatosis

Answer 13

Developement of neurofibrosarcoma +keratin, +S100

resection and radiation

Question 14

middle to older age patients with nerve compression type symptoms in hand or foot overgrowth of digits and bone; histo loose neural tissue with fatty infiltration
Neurofibrolipoma, decompression but sacrifices nerve

Answer 14

<2yo, fever, wt loss, diarrhea, small round blue cells
Neuroblastoma (Wilms)

Adrenal gland (hepatosplenomegaly)

mets to bone poor prognosis

Surgical excision, chemo +stem cell if high grade

Question 15

AA female with massive periarticular calcinosis, proximal femur or greater trochanter, likely in renal failure

Answer 15

tumoral calcinosis

hereditary disfunction of phosphate regulation (FGF-23)

observeation

Question 16

How long to wait to remove myositis ossificans

Answer 16

wait 1 year to remove

Question 17

Hetertopic ossification

Answer 17

follows surgery, truama, THA/TKA, brain/spine injry

bone scan early dx

increased alk phos, CRP/ESR predictors

Indomethacin,, radiation (700)

Question 18

Progressive heterotopic ossification

Answer 18

Fibrodysplasia ossificans progressiva

ACVR1 mutation (BMP receptor)

Question 19

Endosteal or cortical lesion of bone, appers like melted wax dripping down candle

Answer 19

melorheostosis, non genetic

treatment nonspecific

Question 20

Osteopoikilosis

Answer 20

AD condition, multiple small to medium sized bone islands (cold on bone scan), if hot think mets

observation

Question 21

Multiple inheritance patterns

Answer 21

Charcot-Marie-Tooth, osteopetrosis, OI, Neurfibromatosis, SED

Question 22

Sex-linked dominant

Answer 22

Hypophosphatemic rickets, Leri-Weill dyschondrosteosis

Question 23

X-linked recessive

Answer 23

Duschenne MD, Beckers MD, Hunter’s syndrome, hemophilia

Question 24

Autosomal recessive

Answer 24

Friedreichs ataxia, Gaucher disease, Spinal muscular atrophy, Sickle Cell

Question 25

Autosomal dominant

Answer 25

Syndactyly, polydactyly, Marfans, HME, Clediocranial , achondroplasia, Ehlers-Danlos

Question 26

Ashkenazi Jew with bone deformity

Answer 26

lack of glucocerebrosidase, Erlenmeyer flask defromity , AR

Question 27

Collagen disorder with child presenting with fractures, scoliosis, hearing loss and cardiac abnormalitis

Answer 27

OI - COL1A1 or A2, glycin substitution, abnormal cross linking and decreased type I collegen and osteoid, hypermatabolism (increased malginant hyperthermia)

coxa vera, saber shins (bowing), skull radiographs

AD and AR

Question 28

Treatment of OI

Answer 28

Basilar invagination - decompression and fusion, resection of bony compression via transoral approach

Scoliois <45 brace otherwise fusion

Long bone bowing deformities - osteotomy and rod fixation

bisphosphates reduce fracture rate, pain and improve ambulation

Question 29

Most common type of osteopetrosis

Answer 29

Benign Autosomal dominant form

Question 30

Etiology of osteopetrosis

Answer 30

osteoclast dysfunction - defective carbonic anhydrase II - inability of osteoclasts to acidify Howships lacuna

or Chloride channel dysfunction

Question 31

Symptoms of osteopetrosis

Answer 31

increased density and size of bones - cranial nerve palsies, spondylolysis, coxa vera, degenerative joint arthritis, increased risk of fractures + pain, metaphyseal flaring (Erlenmeyer flask deformity), “rugger jersey spine” - stripped bone in spine

Question 32

Histology of osteopetrosis

Answer 32

defective osteoclasts - lack ruffled border and clear zone

Question 33

Treatment of osteopetrosis

Answer 33

bone marrow transplant and high dose calcitriol AR

AD - interferon gamma

otherwise treat symptoms