Benign soft tissue lesions Flashcards
Mutation of PVNS
1p13
overexpression of CSF1 gene
PVNS
hemosiderin stained multinucleated giant cells
What is pigmented villonodular synovitis
locally aggressive neoplastic synovial disease
joint effusions, expansion of synovium and bony erosions
30-40 yo with random knee joint pain and swelling, stiffness, recurrent atraumatic hemarthrosis, may see cystic erosions on CT
PVNS
Confirm with MRI, arthroscopy gold standard of dx (brownish/red inflamed synovium)
Treatment options of PVNS
Observe if asymptomatic
CSF-1 receptor antagonist if really extensive disease
Synovectomy, can add external beam radiation
Total joint if degenerative
What is synovial chondromatosis and treatment
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
fatty intramuscular lesion, usually asymptomatic
lipoma
Mass in childhood that flutuates in size, wormy pattern on MRI and may show calcifications (phleboliths)
hemangioma
most observe, NSAIDS
large painful lesions - ETOH sclerosis
if in hand - excise
Middle aged person with slow growing asymptomatic mass, “string sign”
Neruilemomma aka peripheral nerve sheath tumor
encapsulated by perineurium
excise and save nerve
Stain and mutations associated with neurilemoma
S100+, NFT2
histo: verocay bodies (nuclear palisading) with Antoni A (cellular) and Antoni B (myxoid)
middle aged, superficial slow growing mass, entrapment type symptoms, loose wave enlongated cells with strandlike collagen
neurofibroma
lesion is nerve, only resect if symptomatic
Neurofibromatosis
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
Risk of neurofibromatosis
Developement of neurofibrosarcoma +keratin, +S100
resection and radiation
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
<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
AA female with massive periarticular calcinosis, proximal femur or greater trochanter, likely in renal failure
tumoral calcinosis
hereditary disfunction of phosphate regulation (FGF-23)
observeation
How long to wait to remove myositis ossificans
wait 1 year to remove
Hetertopic ossification
follows surgery, truama, THA/TKA, brain/spine injry
bone scan early dx
increased alk phos, CRP/ESR predictors
Indomethacin,, radiation (700)
Progressive heterotopic ossification
Fibrodysplasia ossificans progressiva
ACVR1 mutation (BMP receptor)
Endosteal or cortical lesion of bone, appers like melted wax dripping down candle
melorheostosis, non genetic
treatment nonspecific
Osteopoikilosis
AD condition, multiple small to medium sized bone islands (cold on bone scan), if hot think mets
observation
Multiple inheritance patterns
Charcot-Marie-Tooth, osteopetrosis, OI, Neurfibromatosis, SED
Sex-linked dominant
Hypophosphatemic rickets, Leri-Weill dyschondrosteosis
X-linked recessive
Duschenne MD, Beckers MD, Hunter’s syndrome, hemophilia
Autosomal recessive
Friedreichs ataxia, Gaucher disease, Spinal muscular atrophy, Sickle Cell
Autosomal dominant
Syndactyly, polydactyly, Marfans, HME, Clediocranial , achondroplasia, Ehlers-Danlos
Ashkenazi Jew with bone deformity
lack of glucocerebrosidase, Erlenmeyer flask defromity , AR
Collagen disorder with child presenting with fractures, scoliosis, hearing loss and cardiac abnormalitis
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
Treatment of OI
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
Most common type of osteopetrosis
Benign Autosomal dominant form
Etiology of osteopetrosis
osteoclast dysfunction - defective carbonic anhydrase II - inability of osteoclasts to acidify Howships lacuna
or Chloride channel dysfunction
Symptoms of osteopetrosis
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
Histology of osteopetrosis
defective osteoclasts - lack ruffled border and clear zone
Treatment of osteopetrosis
bone marrow transplant and high dose calcitriol AR
AD - interferon gamma
otherwise treat symptoms
