Robbins Ch 25, 26, 27 - high yield associations Flashcards
indolent leions on face of older man with irregular notched borders and radial growth
lentigo maligna - melanoma
activating BRAF and NRAS muatations
melanoma
most impt factor when evaluating melanoma
depth of invasion - Breslow’s thickness
lesion >6mm, changing in appearance, new onset itching or pain
melanoma
deactivating mutaiton of FGFR3
seborrheic keratosis
appearance of tan/brown, round, flat, coin-like plaques in large numbers
Leser-Trelat Sign - seborrhic keratosis indicating paraneoplastic syndrome
adenexal tumor ass’d with CYLD mutation that appear on forehead and scalp
cylindroma
adenexal tumor with activating CNTNB1 mutations
pliomatricomas
arises from meibomian gland of eyelid
sebacious carinoma
LOF in PTCH
basal cell carcinoma
AD disorder occurin
nevoid basal cell carcinoma syndrome
chronic xs keratin buildup resulting in fishline scales
ichthyosis
pinpoint bleeds when salmon colored lesion is pulled off skin
auspitz sign - psoriasis
granulomatous inflammation that causes caseous fat necrosis and necrotizing vasculitis
erythema induratum
kiolocytosis - halos of pallor surrounding nuclei
warts from HPV
mosaic pattern of newly formed bone
pagets dz
elevated alkaline phosphatase
pagets dz
t(11;22)
ewing sarcoma
cartilagenous cap
osteochondroma
IgG autoantibodies to desmogelin, blisters that easily break
phemphigus vulgairs
IgG autoantibodies to basal keratinocytes in hemidesmosomes, tense bullae that don’t break easily
bullous phemphigoid
net appearance on IHC staning
phemphigus vulgairs
linear pattern on IHC staning at the dermo-epidermal jxn
bullous phemphigoid
onion skinning
Ewing sarcoma
joint mice
OA
swan neck and boutonniere deformities
RA
mets that cause lytic bone lesions
kidney, lung, GI
mets that cause blastic bone lesions
prostatic adenocarcinoma
Ab to Ca channels
lambert-eaton syndrome
mm weakness that gets better with rest & ass’d with SCLC
lambert-eaton syndrome
Ab to AChRs
myasthenia gravis
muscle weakness that gets worse with use & ass’d with thymoma
myasthenia gravis
perifascular atrophy
dermatomyositis
atrophy of type II mm fiber atrophy w/ type I mm fibers spared
ass’d with prolonged corticosteroid use
anti-Jo1 Abs
dermatomyositis
heliotrope rash
dermatomyositis
C5b9 deposits in capillary vessels
dermatomyositis
irregular lucencies with adjacent sclerosis on XRAY
osteonecrosis
dark serpiginous necrotic bone on MRI
osteonecrosis
sunburst or codman’s triangle on xray
osteosarcoma
best radiographic modality to test for soft tissue involvement
MRI
avascular necrosis of the femoral head is d/t insuffiiency of what artery
medial circumflex humoral
crescent sign
osteonecrosis - microfractures accumulating in the dead bone
double line sign
osteonecrosis - seen at the periphery (best with T2 MRI)
rim sign
osteonecrosis - fluid btwn sclerotic borders
herberden and bouchard nodes - dz and location
OA - DIP and PIP
swan neck and boutinnier deformity - dx and location
RA - DIP and PIP
melanocyte hyperplasia restricted to the basal layer that doesn’t darken when exposed to light
lentigo
possible melanoma precursor with acquired NRAS and BRAF mutations
dysplastic nevi
LOF in CDKN2A or inherited mutations in CDK4
dysplastic nevus syndrome
HMB-45
melanocyte staining agent
eccrine poroama
adenxal tumor on palms & soles
cylindroma
adenxal tumor on forhead & scalp
pearly telangiectatic nodule with rolled borders and central crusting or ulceration
basal cell carcinoma
factor XIIIa positivity
b9 fuibrous histiocytoma - aka dermatofibroma
COL1A1, PDGFB translocation
dermatofibrosarcoma protuberans
honeycomb or swiss cheese appearance of subQ fat
dermatofibrosarcoma protuberans
KIT mutations
mastocytosis
fishlike scales, loss of normal basket weave pattern to stratum corneum
ichthyosis
HLA-B27
psoriatic arthritis
HLA-C(w*062)
psoraisis
infiltrates of NPs into the stratum corneum
munro microabcesses - psoriasis
macules and papules of a erythematous yellow greasy base with scaling and crusting
seborrheic dermatitis
follicular lipping
seborrheic dermatitis
net like lesions on the oral mucosa
lichen planus
IgA at tips of dermal papillae
dermatitis herpiformans
mutations in keratin 14 or 5
epidermolysis bullosa simplex
COL7A1 mutaitons
dystrophic epidermolysis bullosa
utricaria made worse by sunlight
prophyria
gm + rod
p acnes
high cutaneous cathelicidin levels
rosacea
bulbous deformation of the nose
rhinophyma, rosacea
honey colored crust
impetigo
MCC of impetigo
s areus
spaghetti and meatballs
tinea versicolor
perivenular and endoneurial lymhocyte infiltration by MPs and some plasma cells
Guillain-barre
ascending paralysis
Guillain-barre
CSF with increased proteins & scant white cells
Guillain-barre
symmetrical mixed sensorimotor polyneuropathy that persists for 2 or more mo w/ complement fixing of IgG and IgM on the myelin sheath
chonic inflammatory demylinating polyneuropathy
morph of m. leprae
gm +, pleomorphic, acid-fast
PAS + artiolar walls
diabetic neuropathy
autonomic dysfunctions ass’d with diabetic neuropathy
postural HTN, incomplete emptying of the bladder, sexual dysfunction
duplication of ch17 region with PMP22 gene
CMT1
amyloid in peripheral nerve with germline transthyretin mutation
familial amyloid polyneuroapthis
MSRTK type myasthenia gravis MCly involves
shoulder, neck, facial, respiratory, and bulbar mm
morph of botulism
gm + anaerobe
scaling dusky red patches over knuckles, elbows, and knees - whats the lesion and it’s ass’d dz
gottron papules, dermatomyosis
cN1A antibodies
inclusion body myositis
cytoplasmic inclusions of beta-amyloid TDP-43 and ubiquitin
inclusion body myositis
LOF in dystophin gene on X ch
muscular dystrophy
expansion of CTG triplet repeats
myotonic dystrophy
episodic mm damage and cramps with exercise, myoglobinuria
McArdle Dz, glycogen storage dz
ragged red fibers
mitochondrial myopathies
AR LOF in SMN1
spinal muscular atrophy > floppy baby
hypokalemic paralysis
CACNA1S, ion channel myopathy
MC ara of schwannomas
cerebellopontine angle
b/l schwannomas on the vestibular branch of CN VIII creating tinnitus and hearing loss
acoustic neuroma
bag of worms, shredded carrots
nuerofibroma
marbleized tumor mass with fasciculated arrangement of spindle cells
MPNST
lisch nodules (iris) and cafe-au-lait spots
NF1
HOXD13 mutation
bradydachtyly D and E
LOF RUNX2
cleidocranial dysplasia
SQSTM1 mutations and what it leads to
paget’s (OD) , increases osteoclast activity
MCC of infectious osteomyelitis in HbSS
salmonella
germline LOF in EXT 1 or EXT2
osteochondroma
IDH 1 and IDH2 mutaitons
chondroma and chondrosarcoma
methylation of CDKN2A
chondrosarcoma
spindle cells have ch17p13 rearrangement
aneurysmal bone cyst
multiloculated blood filled cysts in the metaphysis of a long bone or vertebra
aneurysmal bone cyst
GOF GNAS1 mutation
fibrous dysplasia
MC ca that mets to bone in adults
prostate, breast, kidney, lung
MC ca that mets to bone in kids
neuroblastoma, wilms, osteosarcoma, ewing, rhabdomycosarcoma
ground glass appearance on radiology
fibrous dysplasia
HLA-DRB1
RA
IgM or IgA to Fc of self IgG
RA
destruction of articular cartilage and bondy anklyosis esp in SI and apopyseal joint, ass’d with IL-23 receptor gene
akylosing spondylitis
complete absence of HPGRT
lesh-nyhan syndrome
t(1:2)(p13,q37) > overexpression of M-CSF
tenosynovial giant cell tumor
MC stie of ganglion cyst
wrist
red-brown to yellow-orange tumor with finger-like projections and nodules
tenosynovial giant cell tumor
MDM2 amplifications
liposarcoma
ppl with FAP and germline APC mutations are predisposed to developing
deep fibromatoses
mm weakness, cataracts, endocrinepolathy, cardiomyopathy
myotonic dystrophy