age 1 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !

acquellne uenlse L8LZ, Adrlan

SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan









9pL, Callbrl - Audlo and ppL
9pL, Callbrl - 8ook


A1nCLCG CI 1nL 8CNLS

8CNLS - are very acLlve and dynamlc organs llke Lhe skln, noL [usL a
passlve coverlng

8CNL MCDLLING AND kLMCDLLING
! 1he processes of bone formaLlon and resorpLlon are LlghLly
coupled, and Lhelr balance deLermlnes skeleLal mass aL any
polnL ln Llme. As Lhe skeleLon grows and enlarges, bone
formaLlon predomlnaLes.
! Cnce Lhe skeleLon has reached maLurlLy, Lhe breakdown and
renewal of bone LhaL are responslble for skeleLal malnLenance
ls called remodellng and ls llkely lnlLlaLed aL slLes experlenclng
faLlgue and mlcrodamage

8CNL GkCW1n AND DLVLLCMLN1
! Mesenchymal deposlLlon lnlLlally, osLeoprogenlLor cells are
deposlLed as flbrous connecLlve Llssue proLelns and are laLer
converLed lnLo carLllage whlch was resorbed and dlgesLed and
Lhen mlnerallzed Lo osLeold maLrlx and wlLh furLher
mlnerallzaLlon Lurns lnLo calclum hydroxyapaLlLe (hard
bone/lamellar bone/mlnerallzed bone), goes on and on ln Lhe
eplphyses of long bones.
! Long bone - Lndochondral osslflcaLlon
! ShorL bones - lnLramembranous osslflcaLlon


8ooe lo ptocess of tepolt


5cbemotlc tepteseototloo of tbe Jlffeteot cell types

! CsLeoblasLs - forms Lhe woven bone maLrlx, Lhere ls lamellar
bone formaLlon wlLh appllcaLlon of force ln Lhe area.
! CsLeoclasLs - ellmlnaLlon of bone when Lhere were no forces
applled












- recycled by osLeoblasLs for new bone formaLlon
where lL ls member of Lhe monocyLes of Lhe bone
marrow, macrophage, maLured and locallzed ln bone
lnLermlngled wlLh osLeocyLes
- once Lrlggered by Lrauma or sLlmulus from
envlronmenL, became acLlvaLed for bone resorpLlon.
- acldlfy envlronmenL and dlssolves calclum
hydroxyapaLlLe whlch was released as dlssolved
maLerlals, were needed
! bones are formed ln Lhe areas appllcaLlon of forces and welghL
bearlng, buL are dlssolved when Lhere was none (bone
remodellng)
! mechanlcal facLors, hormones and cyLoklnes acL on Lhe
osLeoblasLs Lo acLlvaLe Lhem

DLVLLCMLN1AL (GLNL1IC) AND ACUIkLD A8NCkMALI1ILS IN
8CNL CLLLS, MA1kIk, AND S1kUC1UkL
! Subserve Lhe funcLlon of bone sLrucLure developmenL
! uevelopmenL anomalles are frequenLly geneLlcally based and
manlfesL durlng early sLages of bone formaLlon, acqulred
dlseases are usually deLecLed ln adulLhood
! Molecular-paLhogenlc classlflcaLlon of geneLlc dlsorders ls
based on Lhe funcLlonal properLles of Lhe lnvolved gene or
proLeln

DLVLLCMLN1AL (GLNL1IC) AND ACUIkLD A8NCkMALI1ILS IN
8CNL CLLLS, MA1kIk, AND S1kUC1UkL:
A. MALICkMA1ICNS AND DISLASLS CAUSLD 8 DLILC1S IN
NUCLLAk kC1LINS AND 1kANSCkI1ICN IAC1CkS
! exLra dlglLs/ absence and oLher condlLlons
! arblLrary and maybe overlapplng
! slmple anomalles lnclude fallure of developmenL of a bone
(congenlLal absence of a phalanx, rlb or clavlcle)
! an example ls synpo|ydacty|y:
o caused by a muLaLlon ln Lhe homeobox PCxu-13
LranscrlpLlon facLor
o manlfesLs as an exLra dlglL beLween Lhe Lhlrd and
fourLh dlglLs wlLh some fuslon of Lhe flngers

8. DISLASLS CAUSLD 8 DLILC1S nCkMCNLS AND SIGNAL
1kANSDUC1ICN MLCnANISMS
Achondrop|as|a
mosL common form of dwarflsm
defecL ln paracrlne cell slgnallng LhaL conLrol Lhe bone
growLh ln exLremlLles, lndlvlduals have shorL and
Lhlckened llmbs because of abnormallLles ln
chondrocyLe deposlLlon and lnhlblLlon of process
rocess lnvolves flbrous connecLlve Llssue deposlLlon
ln meLaphysls (carLllage plaLe) of long bones
Skull appears comparaLlvely enlarged
uefecL was ln Lhe mlnerallzaLlon and removal of
carLllage
polnL muLaLlon ln Lhe gene LhaL codes for flbroblasL
growLh facLor (lCl) recepLor 3 locaLed ln
chromosome 4
lCl recepLor 3 - lnhlblLs carLllage prollferaLlon, ln
achondroplasla Lhe muLaLlon causes Lhe recepLor Lo
be ln sLaLe of consLanL acLlvaLlon, Lhereby
suppresslng growLh
auLosomal domlnanL lnherlLance

MCknCLCG
nIS1CLCG
" growLh plaLe - zones of prollferaLlon and hyperLrophy are
narrowed and dlsorganlzed and conLaln clusLers of large
chondrocyLes lnsLead of well-formed columns
1lLle: A1PCLCC? Cl 1PL 8CnLS,
!Cln1S Anu SCl1 1lSSuL

LecLurer: u8. AuLA uaLe: lL88uA8? 11, 2010
age 2 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
" aL Lhe base of growLh plaLe, Lhere ls premaLure deposlLlon
of horlzonLal sLruLs of bone LhaL seals Lhe plaLe and
prevenL furLher growLh
" apposlLlonal lnLramembranous bone formaLlon ls noL
dlsrupLed Lherefore Lhe corLlces form normally and appear
Lhlckened ln relaLlon Lo Lhe shorL lengLh of Lhe bone

1hanatopor|c dwarf|sm
mosL common form of leLhal dwarflsm
caused by dlfferenL muLaLlon ln lCl recepLor 3
dysfuncLlonal growLh plaLe produce mlcromellc
shorLenlng of Lhe llmbs, relaLlve macrocephaly, and a
consLrlcLed Lhoraclc cage LhaL causes deaLh soon afLer
blrLh

C. DISLASLS ASSCCIA1LD WI1n DLILC1S IN Lk1kACLLLULAk
S1kUC1UkAL kC1LINS
! Collagenous proLelns- Lype 1, 2, 10, 11 are Lhe ones
lnlLlally deposlLed ln bone formaLlon. lf lnherlLed
genes encodlng for Lhese proLelns are abnormal,
lesser proLelns producLlon and hence less bone
formaLlon
1ype 1 Co||agen D|seases(Csteogenes|s Imperfecta)
less bone producLlon, Loo llLLle bone", Lhln and easlly
fracLures (brlLLle bone dlsease)
lndlvlduals wlLh severe forms usually have fracLures
ln uLero
mlld forms are lnlLlally noL noLlced buL are prone Lo
fracLures as Lhey grow older, chlldren wlLh
osLeogenesls lmperfecLa were suspecLed as vlcLlms of
chlld abuse
blue sclera due Lo defecLlve collagen, LeeLh and skln
are also affecLed
MCknCLCG
nIS1CLCG
" CsLeophenla wlLh marked Lhlnnlng of Lhe corLlces
and rarefacLlon of Lhe Lrabeculae

1ype 2, 10 and 11 Co||agen D|seases
Achondrogenes|s II
o 8eplacemenL ls affecLed hence Lhere ls early
closure of Lhe eplphyseal plaLe

D. DISLASLS ASSCCIA1LD WI1n DLILC1S IN ICLDING AND
DLGkADA1ICN CI MACkCMCLLCULLS
Mucopo|ysacchar|des
dlseases caused by deflclencles ln Lhe enzyme LhaL
degrade dermaLan sulfaLe, heparln sulfaLe and
keraLan sulfaLe
paLlenLs have defecLlve bone formaLlon and are shorL
wlLh chesL wall deformlLles, carLllage formaLlon
prlmarlly affecLed. llbroblasLlc sLage normal buL
carLllagenous phase ls abnormal, mlnerallzaLlon does
noL Lake place
Lhere ls lncrease ln carLllage formaLlon buL
mlnerallzaLlon does noL occur because of abnormallLy
ln Lhe Lype of carLllage formed
abnormallLles ln growLh plaLes, cosLal carLllages, and
arLlcular surfaces. ShorL sLaLure and malformed bones

L. DISLASLS ASSCCIA1LD WI1n DLILC1S IN ML1A8CLIC
A1nWAS (LN2MLS, ICN CnANNLLS, AND
1kANSCk1LkS)
Csteopetros|s
lnvolves Lhe osLeoclasLs, Lhere ls defecL ln carbonlc
anhydrase enzyme LhaL acldlfy and dlssolves bone
rock-llke formaLlon of Lhe bone, Lhlckened buL brlLLle,
bone was noL resolved
LreaLmenL ls by bone marrow LransplanLaLlon, lmporL
normal bone marrow LhaL wlll produce normal
macrophages Lo became normal osLeoclasLs
MCknCLCG
" Lrlenmeyer flask deformlLy- bones lack medullary
canal, narrow aL Lhe Lop, wlder aL Lhe boLLom llke a
pyramld.

I. DISLASLS ASSCCIA1LD WI1n DLCkLASLD 8CNL MASS
Csteoporos|s
A dlsease characLerlzed by reducLlon of bone mass
Seen ln elderly of boLh sexes
More pronounce on posLmenopausal women

# r|mary cause of osteoporos|s:
o osLmenopausal
o Aglng/senlle

# Secondary cause of osteoporos|s:
o Lndocr|ne - hyperparaLhyroldlsm, hypoparaLhyroldlsm,
hypogonadlsm, plLulLary Lumors, uM Lype 1, Addlson's
dlsease
o Neop|as|a - mulLlple myeloma, carclnomaLosls
o Gastro|ntest|na| - malnuLrlLlon, malabsorpLlon, hepaLlc
lnsufflclency, vlLamln C and u deflclency
o Drugs - anLlcoagulanLs, chemoLherapeuLlc drugs,
corLlcosLerolds, anLlconvulsanLs, alcohol
o M|sce||aneous - osLeogenesls lmperfecLa, lmmoblllzaLlon,
pulmonary dlsease, homocysLlnurla, anemla


1here are Lwo prlmary cause of osLeoporosls ln Lhls dlagram: (lefL)
menopausa| and (rlghL) ag|ng]sen||e osLeoporosls.

Aglng/ Senlle CsLeoporosls
o 8one formaLlon durlng Lhe early sLage of llfe ls predomlnanLly
osLeoblasLlc (bone formaLlon), Lhere ls also osLeolyLlc/ bone
remodellng buL Lhe balance ls ln favor of bone formaLlon raLher
Lhan bone resorpLlon.
o ln adulLhood, Lhe balance ls equal, does noL sLop maklng bone,
sLlll conLlnue Lo make bone buL Lhe amounL of bone formed ls
equal Lo Lhe amounL of bone resolved.
o 1here ls consLanL bulldlng up and breaklng down.
o 8y Lhe age of 30, Lhe balance Llp ln favor of bone resorpLlon,
more bone resorpLlon Lhan bone formaLlon, 30 onwards, you
would have less and less bone every year unLll you develop
senlle osLeoporosls.
osLmenopausal osLeoporosls
o Also lncrease ln osLeoclasLlc acLlvlLy lnduced by decrease ln
serum esLrogen levels
o LsLrogen- hormone LhaL also acLlvaLes Lhe osLeoblasL Lo
make bone formaLlon
o When esLrogen ls decreased ln menopause Lhere ls less bone
formaLlon because osLeoblasLs are noL acLlvaLed by Lhe
hormone anymore, Lhere ls less esLrogen $ lncreased
secreLlon of |nter|euk|n 1 and 6, and tumor necros|s factor
$ lncrease levels of kANk and kANkL$ sLlmulaLes
osLeoclasL recrulLmenL and acLlvlLy and reduclng
osLeoproLegrln
o 8Ank (8ecepLor AcLlvaLor of nuclear k) and 8AnkL (8Ank 8
Llgand) are communlcaLlon sysLem beLween osLeoblasLs and
osLeoclasLs. CsLeoblasLs command/Lrlgger osLeoclasLs Lo
resorb Lhe bone Lhru Lhls conLacL. lncreased osLeoclasL
acLlvlLy afLer menopause
MCknCLCG
" CorLex and Lrabeculae are Lhlnned, and haverslan sysLems
are wldened
" 8esldual bone ls of normal composlLlon

CLINICAL ILA1UkLS
" aln due Lo mlcrofracLures
age 3 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
" Loss ln helghL and sLablllLy of verLebral column
" redlsposes Lo fracLure of femoral neck, wrlsLs and
verLebrae

G. DISLASLS CAUSLD 8 CS1LCCLAS1 DSIUNC1ICN
aget D|sease (Cste|t|s Deformans)
acLually a slow vlrus lnfecLlon of osLeoclasLs and
osLeoblasLs by aramyxov|rus type(measles, resplraLory
syncyLlal vlrus)
perslsLenL lnfecLlon ln Lhe bone
predlsposlLlon of ageL dlsease has been llnked Lo
chromosome 18q
Stages of aget d|sease:
1. An lnlLlal osLeolyLlc sLage
o osLeoclasLs lnlLlally has a very rapld osLeolyLlc phase
where ln Lhe bone becomes Lhln
o marked resorpLlon by numerous, overly large
osLeoclasLs
2. A mlxed osLeolyLlc-osLeoblasLlc sLage
o Lhere ls a mlxLure of osLeolyLlc and osLeoblasLlc
resulLlng Lo rapld reabsorpLlon and rapld formaLlon of
bones
o bone ls poorly mlnerallzed and ls sofL and porous,
lacklng sLrucLural sLablllLy
o unlLs of lamellar bone are deposlLed ln a t||e-||ke or
mosa|c pattern wh|ch |s pathognomon|c of aget
d|sease
3. 8urn ouL, qulescenL osLeoclasLlc sLage
o bone sclerosls composed of mosalc paLLern of lamellar
bone wlLh coarsely Lhlckened Lrabeculae and corLlces

CLINICAL ILA1UkLS
" May demonsLraLe fracLures, nerve compresslon,
osLeoarLhrlLls, and skeleLal deformlLles llke Llblal bowlng
and skull enlargemenL
" May produce leonLlasls ossea (llon-llke face), coarsenlng of
Lhe faclal bones


8ooe mosolc, woveo booe becomes scletotlc (mosolc potteto of booe
qtowtb), tbete ls mottlx moJoess lo tbe fotmotloo of woveo booe lo
loqet Jlseose. 1bls ls Jotloq tbe osteoscletotlc pbose


n. DISLASLS ASSCCIA1LD WI1n A8NCkMAL MINLkAL
nCMLCS1ASIS
k|ckets and osteoma|ac|a
V|tam|n D def|c|ency or phosphaLe depleLlon resulLlng ln
defecLlve maLrlx mlnerallzaLlon
8lckeLs refers Lo Lhe dlsorder ln chlldren ln whlch
deranged bone growLh produces dlsLlncLlve skeleLal
deformlLles
ln adulL, Lhe dlsorder ls called osLeomalacla because Lhe
bone LhaL forms durlng remodellng process ls
undermlnerallzed
Causes of vlLamln u deflclency:
o uleLary deflclency
o lnadequaLe sunllghL exposure
o MalabsorpLlon of vlLamln u, calclum and phosphaLe
o uerangemenLs ln converslon of vlLamln u Lo acLlve
meLabollLes
o Lnd-organ reslsLance
o 8are heredlLary or acqulred dlsorders of vlLamln u
meLabollsm


CLINICAL ILA1UkLS
" ln growlng chlld, skeleLon ls weak wlLh bowlng of legs
and deformlLles ln rlbs, skull, and oLher bones.
" ln adulLs cause osLeopenlc osLeomalacla wlLh no
skeleLal deformlLles

nyperparathyro|d|sm
rlmary hyperparaLhyroldlsm - resulLs from auLonomous
hyperplasla or a Lumor, usually an adenoma of Lhe
paraLhyrold gland
Secondary hyperparaLhyroldlsm - commonly caused by
prolonged sLaLes of hypocalcemla resulLlng ln
compensaLory hyposecreLlon of 1P
LlLher prlmary or secondary hyperparaLhyroldlsm $
demlnerallzaLlon $ hlgh osLeoclasLlc acLlvlLy wlLh bone
resorpLlon and perlLrabecular flbrosls (osLelLls flbrosa) $
marrow flbrosls and cysL formaLlon (oste|t|s f|brosa cyst|c
or von keck||nghausen d|sease of bone)
8one loss mosL common on dlsLal phalanges, clavlcles, and
LooLh sockeLs
So called 8rown tumors" because Lhey resemble
reparaLlve glanL cell granulomas, also occur wlLhln Lhe
bones. 8egresses afLer conLrol of hyperparaLhyroldlsm


8towo tomot of bypetpototbytolJlsm, voo kecklloqbooseo Jlseose of
tbe booe, octlvote osteoclost, tesotbs tbe booe, booe becomes
tblooet, eoslly ftoctoteJ ooJ tbete ote bemottboqes qlvloq tlse to tbe
btowo Jlscolototloo. 1be tepototlve ptocess of tbe bemottboqe ooJ
tbe oectotlc Jebtls mokes tbem become tomot-llke, oot teolly tomots
bot ftoctotes becoose of mloetol Jefect lo bypetpototbytolJlsm. 1bls
speclmeo ls tokeo ftom tbe tlbs, jost oftet tbe costol cottlloqe

kena| osteodystrophy
aLhology makes Lhe kldney unable Lo produce vlLamln u
$ vlL u ls acLlvaLed ln Lhe kldney and Lhe falllng kldney do
noL converL Lhe lnacLlve Lo more acLlve form of vlL u $ Ca
meLabollsm ls adversely affecLed and Lhe reabsorpLlon and
vlL u producLlon ln Lhe kldney are compromlsed ln renal
dlsease $ renal osLeodysLrophy.
MeLabollc acldosls, lron and alumlnum deposlLlon ln bone
MeLasLaLlc calclflcaLlons may develop ln skln, eyes, and
arLerlal walls and around [olnLs


IkAC1UkLS
! MosL common paLhologlc condlLlon affecLlng bones
! A repalr process, chemlcal medlaLors acLs on Lhe osLeoclasLs
and osLeoblasLs creaLlng repalr process slmllar Lo bone
remodellng
! Peallng based on Lype of fracLure. 8esoluLlon lnvolves
organlzaLlon of hemaLoma (weak procallus) $
flbrocarLllagenous callus $ osseous callus $compleLe repalr
(allgnmenL ls lmporLanL)
! ulfferenL anaLomlcal Lypes of fracLures:
# Slmple fracLure - when Lhere ls a bend ln Lhe bone
# CompleLe fracLure - when Lhere ls LoLal dlsconnecLlon
beLween Lhe Lwo ends of Lhe fracLure slLe
# Compound fracLure - compleLe fracLure LhaL causes ln[ury
Lo Lhe surroundlng sofL Llssue (e.g. fracLure where one end
of Lhe bone proLrudes ouL of Lhe sofL Llssue ouLslde Lo Lhe
exLernal envlronmenL),
# CommlnuLed fracLure - bones are fragmenLed


age 4 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
CS1LCNLCkCSIS (AVASCULAk NLCkCSIS)
! Lhere ls someLhlng wrong wlLh Lhe vascular supply, Lhere ls
lschemla and necrosls
! lnfarcLlon of bone marrow due Lo vascular erupLlon, Lhrombosls
and embollsm, vessel ln[ury, vascular compresslon due Lo
sLerold-lnduced necrosls (mosL common), or venous
hyperLenslon
! Causes:
rad|at|on - also affecL and damage collaLeral sLrucLures
and nearby bones, slnce blood vessel endoLhellum ls
senslLlve Lo radlaLlon ln[ury, Lhese can undergo ln[ury and
necrosls, Lhrombosls and obsLrucLlon, one of Lhe effecLs of
radlaLlon ls really obsLrucLlon of Lhe blood supply
Ca|sson's d|sease]decompress|on s|ckness - among scuba
dlvers, bubbles form ln Lhe bloodsLream as scuba dlvers
from deeper porLlons where Lhere ls hlgher pressure
surface rapldly, Lhese bubbles acL as alr embollsm, forms
cloL and obsLrucL blood vessel. ln Lhe bone, Lhe
manlfesLaLlon ls avascular necrosls or osLeonecrosls
drugs - sLerolds may also cause obsLrucLlon of Lhese blood
vessels

MCkn0LCG
" CorLex ls noL usually affecLed because of lLs collaLeral
blood flow
" ArLlcular carLllage remalns vlable because lL recelves
nuLrlLlon from synovlal fluld
" 8ecognlzed by lLs empLy lacunae, deaLh of osLeocyLes and
surrounded by necroLlc adlpocyLe LhaL frequenLly rupLure


Osteooectosls/ ovoscolot oectosls - mecboolsm ls lscbemlo, lock of
blooJ sopply, tbete ls o weJqe-sbopeJ/ ttlooqolot- sbopeJ oteo of
pollot ooJ becomes lscbemlc Joe to oo obsttocteJ blooJ sopply lo
tbe oteo otoooJ tbe bllos of tbe oectosls, tbete ls o collopse of tbe
oteo becoose of ptessote ftom tbe obove
neoJ of femot

INILC1ICNS - CS1LCMLLI1IS
! lnflammaLlon of bone and bone marrow
! Commonly lmplles lnfecLlon
! Causes: vlruses, paraslLes, fungl, and bacLerla buL more
commonly by pyogenlc and mycobacLerla

yogen|c Csteomye||t|s
8esulLs from bacLerlal seedlng of bone by:
PemaLogenous spread - mosL common and develop ln
long bones or verLebral bodles
LxLenslon from a conLlguous slLe
ulrecL lmplanLaLlon
SLaph aureus ls responslble for 80 Lo 90 of cases
SuppuraLlve reacLlon assoclaLed wlLh lschemlc necrosls,
flbrosls, and bony repalr
necrosls of a bone segmenL may produce a sequestrum
SubperlosLeal new bone produces an |nvo|crum LhaL
encloses and envelopes Lhe lnflammaLory focus
Chronlc cases may lead Lo bone deformlLles and slnus
LracLs. Small walled-off lnLracorLlcal abscesses are known
as 8rod|e abscess

CLINICAL ILA1UkLS
" AcuLe febrlle lllness wlLh paln, Lenderness, and heaL
referable Lo local leslon
" 1reaL aggresslvely w/ anLlbloLlcs before any serlous
damage Lakes place


5oppototlve osteomyelltls ot pyoqeolc osteomyelltls. tbete ls
lofectloo of tbe booe mottow, wblcb Jtolos, tbete ls o Jtolooqe
oteo wltb tbe oectotlc booe (sepoesttom) tbot bos beeo posbeJ
lowotJ

1ubercu|ous osteomye||t|s
More chronlc condlLlon
usually ln lmmunosuppressed paLlenL
1hese are common ln Lhe lumbar and Lhoraclc verLebra, 18
lnfecLlon wlll cause Lhe verLebral body Lo collapse and ln
Lhe process of collapslng Lhe anaLomlc sLrucLure of Lhe
lndlvldual ls alLered(poLL's dlsease)
AffecLed lndlvlduals become shorLer as Lhey collapse
lf Lhey collapse fronLward, lL ls called kyphosls
(hunchback), sldewards ls scollosls, comblnaLlon of
forward and sldeward ls called kyphoscollosls

Ske|eta| syph|||s
Syphllls of Lhe bones
CongenlLal syphllls: bone leslons begln Lo appear aL
3monLhs ACC, fully develop aL blrLh
o SyphlllLlc saber-shaped shln: masslve bone deposlLlon
on Lhe medlal and anLerlor surface of Lhe Llbla
o 8ones lnvolved are usually Lhose of Lhe nose, palaLe,
skull, and exLremlLles
Acqulred syphllls: bone lnvolvemenL ls seen LerLlary sLage
(2-3 years afLer lnfecLlon)
o lnfecLlon ls locallze ln areas of acLlve endochondral
osslflcaLlon (osLeochondrlLls) and ln perlosLeum
(perlosLlLls)

8CNL 1UMCkS AND 1UMCk-LIkL LLSICNS
- ulverse ln Lhelr gross and morphologlc feaLures and range ln
Lhelr blologlc poLenLlal from Lhe lnnocuous Lo Lhe rapldly faLal
- MosL bone Lumors are classlfled accordlng Lo Lhe normal cell or
Llssue of orlgln
- x-ray appearance, slLe of predllecLlon, age and sex of Lhe
paLlenL are lmporLanL ln supporLlng Lhe dlagnosls

8CNL ICkMING 1UMCkS
! neoplasLlc cells produce bones
! 1umor bone ls deposlLed as woven Lrabeculae (excepL ln
osLeoma) and ls varlably mlnerallzed

CS1LCMA
8osselaLed, round Lo oval sesslle Lumors LhaL pro[ecL from
Lhe subperlosLeal or endosLeal surfaces of Lhe corLex
1hese Lumors are of llLLle slgnlflcance unless Lhelr locaLlon
compromlses local organ funcLlon or produces cosmeLlc
deformlLles
SubperlosLeal osLeomas - arlse on or lnslde Lhe skull and
faclal bones, usually sollLary, seen ln mlddle aged adulLs
Gardner syndrome $ mulLlple osLeomas can be seen
uo noL Lransform lnLo osLeosarcoma

CS1LCID CS1LCMA AND CS1LC8LAS1CMA
More aggresslve Lype, lncreased ln cellularlLy, more acLlve,
more aggresslve and more locally lnvaslve Lhan osLeoma
8enlgn bone Lumors LhaL have ldenLlcal hlsLologlc feaLures
buL dlffer ln slze, slLes of orlgln and sympLoms
Csteo|d osteoma
age S of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
o Less Lhan 2cm ln greaLesL dlmenslon and usually occur
ln paLlenLs ln Lhelr Leens and LwenLles, 2:1 (men:
women)
o Can arlse ln any bone, predllecLlon for appendlcular
skeleLon
o Severely palnful leslons, usually nocLurnal and relleved
by asplrln, due Lo prosLaglandln L2 producLlon
Csteob|astoma
o More frequenLly lnvolves Lhe splne
o aln ls dull and noL responslve Lo sallcylaLes
o uoes noL lnduce a marked bony reacLlon
8oLh osLeold osLeoma and osLeoblasLoma are readlly LreaLed
by surgery buL can recur lf noL properly exclsed

MCknCLCG
GkCSS
" 8oLh are round Lo oval masses of hemorrhaglc grlLLy Lan
Llssue
nIS1CLCG
" Well clrcumscrlbed and composed of a mass of randomly
lnLerconnecLlng Lrabeculae of woven bone promlnenLly
rlmmed by osLeoblasLs
" nldus - acLual Lumor, seen radlographlcally as a small
round lucency

CS1LCSAkCCMA
Ma||gnant mesenchyma| tumor where Lhe cancer cells
produce bone maLrlx
MosL common prlmary mallgnanL Lumor of Lhe bone
D|agnos|s |s through |dent|f|cat|on of osteo|d matr|x formed
by the tumor ce||s
MallgnanL cells dlrecLly form osLeold, bone, or boLh $
lncorporaLlon of anaplasLlc Lumor cells wlLhln Lhe lacunae of
Lhe osLeold maLrlx.
CeneLlc, consLlLuLlonal, and envlronmenLal lnfluences are
lmporLanL. AssoclaLed wlLh famlllal reLlnoblasLoma (muLaLlon
on 8b gene on chromosome 13).
Sporadlc osLeosarcoma have muLaLlons ln p33 suppressor
gene on chromosome 17 (Ll-lraumenl syndrome)

MCknCLCG
GkCSS
" 8ulky Lumors LhaL are grlLLy, gray whlLe, and ofLen conLaln
areas of hemorrhage and cysLlc degeneraLlon
" lrequenLly desLroy Lhe surroundlng corLlces and produce
sofL Llssue masses
" !olnL lnvaslon - Lumor grows lnLo lL along
LendlnollgamenLous sLrucLures or Lhrough Lhe aLLachmenL
slLe of [olnL capsule
nIS1CLCG
" 1umor cells frequenLly have large hyperchromaLlc nuclel
" 1umor glanL cells and mlLoses are common
" Neop|ast|c bone - coarse, lacellke archlLecLure deposlLed
broad sheeLs or as prlmlLlve Lrabeculae
" CorLlcal peneLraLlon of Lumor wlLh perlosLeal elevaLlon
causes Codman tr|ang|e and ls evldenL on x-ray


ulstol femotol osteosotcomo wltb ptomloeot booe fotmotloo
exteoJloq loto tbe soft tlssoes. 1be petlosteom, wblcb bos beeo
llfteJ, bos lolJ Jowo o ptoxlmol ttlooqolot sbell of teoctlve booe
koowo os coJmoo ttlooqle


5cbemotlc Jloqtom sbowloq tbe slte of pteJllectloo of osteosotcomo


CAk1ILAGL ICkMING 1UMCkS
! CharacLerlzed by Lhe formaLlon of hyallne or myxold carLllage
! llbrocarLllage and elasLlc carLllage are rare
! 8enlgn ones are more common Lhan mallgnanL

CS1LCCnCNDkCMA
Also known as exostos|s
Sporadlc or profused ln syndrome of auLosomal domlnanL
mulLlple heredlLary exosLosls.
revlously belleved as a resulL from dlsplacemenL of Lhe
laLeral porLlon of Lhe growLh plaLe, whlch Lhen prollferaLes ln
a dlrecLlon dlagonal Lo Lhe long axls of Lhe bone and away
from Lhe nearby [olnL
8ecenL sLudles ldenLlfled speclflc cyLogenlc abnormallLles ln
Lhe carLllage cap of osLeochondromas supporLlng LhaL lL was
neo plasLlc
Male Lo female raLlo (3:1)
MulLlple heredlLary exosLosls - underlylng bones are bowed
and shorLened, dlsLurbance ln eplphyseal growLh


uevelopmeotol Jefect colleJ exostosls. Mecboolsm. loltlolly tbete ls
Jevelopmeotol Jefect, oo ootqtowloq of tbe cottlloqe lo tbe
eplpbyses of looq booe, os booe qtows, lt ls left bebloJ os o cottlloqe
cop ovetlyloq tbe booe ooJ lotet qtows fottbet ooJ ls octoolly lo
cootloolty wltb tbe booe mottow

MCknCLCG
GkCSS
" Mushroom shaped, 1 Lo 20 cm covered by perlchondrlum
" CarLllage cap appears as dlsorganlzed growLh plaLe and
undergoes enchondral osslflcaLlon
" SLalk and medullary cavlLy of Lhe cap are ln conLlnulLy wlLh
corLex and marrow cavlLy of Lhe underlylng bone

CnCNDkCMA
8enlgn Lumors are composed of hyallne carLllage
1hose wlLhln Lhe bone are called enchondromas
May be slngle or mulLlple
Lnchondromatos|s or C|||er d|sease - a non famlllal
mulLlple form
Maffucc| syndrome - a famlllal form wlLh mulLlple
chondromas assoclaLed wlLh hemanglomas
AsympLomaLlc buL may cause bone deformlLy, paln, and
fracLure
*uysostosls eocbooJtomo/cbooJtomotosls- more of a
developmenLal defecL raLher Lhan a neoplasm, someLlmes
[usL dlscovered lncldenLally ln x-ray, besL lefL alone and
age 6 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
observe unless lL lmplnges on some nerve and cause paln
Lo Lhe paLlenL or creaLe some cosmeLlc abnormallLy

MCknCLCG
GkCSS
" >3cm gray-blue, LranslucenL, wlLh nodular conflguraLlon
nIS1CLCG
" nodules of carLllage are well clrcumscrlbed and have a
hyallne maLrlx


cbooJtomo/eocbooJtomo, tbete ls sottoooJloq lomellot booe,
cottlloqe cells ote beolqo, oocleos smoll, oot bypetcbtomotlc, oot
vety cellolot, scotteteJ ooJ sepototeJ by cottlloqe

CnCNDkC8LAS1CMA
8enlgn Lumor
redllecLlon for eplphyses and apophyses (eplphyseal
equlvalenLs, l.e., lllac cresL)
usually palnful because Lhey are found near Lhe [olnLs -
effuslons and resLrlcL [olnL moblllLy
Common on older paLlenLs

MCknCLCG
nIS1CLCG
" 1umor cells are polygonal, arranged ln sheeLs, and
someLlmes surrounded by a lacellke paLLern of focally
hyallne carLllage, wlLh nuclel LhaL are deeply lndenLed or
longlLudlnally grooved
" MulLlnucleaLed, osLeoclasL llke glanL cells may be presenL
" When maLrlx calclfles - chlcken-wlre paLLern of
mlnerallzaLlon


cbooJtoblostomo. 1bls ls o mote cellolot type of cottlloqe tomot,
mote oqqtesslve ooJ mote locolly lovoslve bot oot mollqooot, Joes
oot metostoslze, sometlmes lf locompletely tesecteJ, tbey coo tecot/
qtow bock. cblckeo-wlte oppeotooce becoose of tbe bockqtoooJ
pole coooectlve tlssoe ooJ cleot cytoplosm, cbooJtocytes mote
cellolot tboo cbooJtomo

CnCNDkCMkCID II8kCMA
uncommon benlgn Lumor composed of chondrold, flbrous
and myxold Llssues
Common on meLaphysls of long bones
Common ln male Leens or early 20s
Mlsdlagnosed as sarcoma because of focal aLypla
1reaLmenL ls cureLLage
llbromyxold - Lhere ls a comblnaLlon of carLllage and
connecLlve Llssue
MCknCLCG
GkCSS
" 3 Lo 8cm, well clrcumscrlbed, solld, and gllsLenlng Lan-gray
nIS1CLCG
" nodules of poorly formed hyallne carLllage and myxold
Llssue dellneaLed by flbrous sepLae

CnCNDkCSAkCCMA
AlmosL 90 arlse as prlmary chondrosarcoma, secondary
arlse ln assoclaLlon wlLh a pre-exlsLlng enchondroma or
osLeochondroma
rlmary leslon ln cenLral skeleLon llke rlbs, shoulder, pelvlc
glrdle and around Lhe knee.
x-ray shows locallzed area of bone desLrucLlon puncLuaLed
by moLLled denslLles from calclflcaLlon or osslflcaLlon
Common ln mlddle aged and older people
1o dlagnose, look aL lndlvldual cells belng pleomorphlc,
hyperchromaLlc, mulLlnucleaLed Lumor glanL cells
1reaLmenL: wlde surglcal exclslon + chemoLherapy

MCknCLCG
GkCSS
" Large, bulky, nodules of gray-whlLe, LranslucenL gllsLenlng
Llssue
nIS1CLCG
" SpoLLy calclflcaLlons, cenLral necrosls
" Ad[acenL corLex ls Lhlckened and eroded


Ctoss plctote of cbooJtosotcomo. cottlloqe ootote of tbe tomot ls
stlll ooteJ, sllmy, qllsteoloq cottlloqeooos motetlol exteoJloq ftom
tbe booe to tbe sottoooJloq soft tlssoe ooJ tbe petlosteom. \-toy
oppeotooce wlll be toJloloceot/ llqbt lo \-toy

II8kCUS AND II8kC-CSSLCUS 1UMCkS
! 1umors composed solely or predomlnanLly of flbrous elemenLs
are dlverse and lnclude some of Lhe mosL common leslons of
skeleLon
! lormerly called hlsLlocyLoma because Lhey appear as
hlsLlocyLes
! lurLher lnvesLlgaLlon of newer Lechnologles ldenLlfylng Lhe
sLrucLural componenL, lL ls deflnlLely a flbrous Llssue/ flbroblasL
raLher Lhan a hlsLlocyLe

II8kCUS CCk1ICAL DLILC1 AND NCNCSSIIING II8kCMA
8elleved Lo be a developmenLal defecL raLher Lhe neoplasms
Ma[orlLy arlse eccenLrlcally ln Lhe meLaphyslc of Lhe dlsLal
femur and proxlmal Llbla
Cenerally asympLomaLlc buL may lead Lo fracLure
LlmlLed growLh and undergoes sponLaneous resoluLlon

MCknCLCG
nIS1CLCG
" llbroblasLs arranged ln sLorlform (plnwheel paLLern)

II8kCUS DSLASIA
8enlgn and locallzed Lumor
rogresslve replacemenL of bone by a flbrous prollferaLlon
lnLermlxed wlLh poorly formed haphazardly arranged
Lrabeculae of woven bone
All of Lhe componenLs of a normal bone ls presenL buL do noL
dlfferenLlaLe lnLo Lhelr maLure sLrucLures
Cllnlcal paLLerns:
o lnvolvemenL of a slngle bone (monosLoLlc)
o lnvolvemenL of mulLlple bones (polyosLoLlc)
o lnvolvemenL of mulLlple bones wlLh assoclaLed endocrlne
abnormallLles

Monostot|c f|brous dysp|as|a
o Lqual M:l raLlo
age 7 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
o Common affecLed bones are rlbs, femur, Llbla, [awbones
and humerus
o Can cause marked enlargemenL and dlsLorLlon of bone

o|yostot|c f|brous dysp|as|a
o ropenslLy Lo affecL Lhe shoulder and pelvlc glrdle -
crlppllng deformlLles or recurrenL fracLures
o Can also be assoclaLed wlLh cranlofaclal and proxlmal
femur fracLures or deformlLles (shepherd-crook
deform|ty)

o|yostot|c w|th assoc|ated endocr|ne abnorma||t|es
o lf presenLs wlLh cafe au lalL skln plgmenLaLlon lL ls called
McCune-A|br|ght syndrome
o SkeleLal, skln and endocrlne leslons due Lo somaLlc
muLaLlon durlng embryogenesls lnvolvlng gene LhaL
decodes C proLeln $ excess cAM $ hyperfuncLlon of
cells
o Common presenLaLlon ls precoclous puberLy, l>M

MCknCLCG
nIS1CLCG
" Composed of curvlllnear Lrabeculae surrounded by a
moderaLely cellular flbroblasLlc prollferaLlon, 1rabeculae
looks llke Chlnese characLers
" 8one has no osLeoblasLlc rlmmlng

II8kCSAkCCMA AND MALIGNAN1 II8kCUS nIS1ICC1CMA
llbroblasLlc collagen produclng sarcoma of bone
llbrosarcoma equal M:l raLlo, llbrous hlsLlocyLoma M>l
ManlfesLs as desLrucLlve, poorly deflned, lyLlc mass LhaL
frequenLly exLends Lo Lhe sofL Llssue
Leslons usually arlse de novo, some arlse on a background of
ageL dlsease, bone lnfarcLs or prlor radlaLlon

I|brosarcoma
o MallgnanL flbroblasLs arranged ln a herr|ngbone pattern
o level of dlfferenLlaLlon depends on Lhe amounL of collagen
produce and cyLologlc aLypla
o MulLlnucleaLed cells are noL common

Ma||gnant f|brous h|st|ocytoma
o 8ackground of splndled flbroblasLs ln a sLorlform paLLern
admlxed wlLh large, ovold, blzarre mulLlnucleaLed glanL
cells
o Plgh-grade pleomorphlc Lumor


llbtosotcomo composeJ of mollqooot sploJle cells lo o bettloqbooe
potteto

MISCLLLANLCUS 1UMCkS

LWING SAkCCMA AND kIMI1IVL NLUkCLC1CDLkMAL
1UMCk
rlmary mallgnanL small round cell Lumors of bone and sofL
Llssue
Slmllar neural phenoLype, share an ldenLlcal chromosome
LranslocaLlon, dlfferlng only ln Lhelr degree of neural
dlfferenLlaLlon
1here ls L(11,22)(q24,q12) LranslocaLlon
1umor presenL aL 10 Lo 13 y/o, 80 are younger Lhan 20,
M>l
1umor usually lnvades corLex and peneLraLes Lhe perlosLeum
Lo produce a sofL Llssue mass
lL ls composed of sheeLs of unlform small round cells LhaL
occaslonally produce Pomer-WrlghL pseudoroseLLes (Lumor
cells arrayed ln a clrcle abouL a cenLral flbrlllary space)
alnful enlarglng mass ofLen Lender, warm, and swollen

GIAN1 CLLL 1UMCkS
Also known as oLeoclasLoma
ConLalns a profuslon of mulLlnucleaLed osLeoclasL-Lype glanL
cells
derlved from mononuclear macrophages
lgmenLed vlllonodular synovlLls- relaLed Lo glanL cell Lumor,
also conLalns glanL cells, seen synovlal Llssue/ connecLlve
Llssue around [olnL capsule
x-ray reveals large lyLlc soap bubble leslons
8are lf wlLh lmmaLure skeleLon
Locally aggresslve
neoplasLlc cell ls splndled sLromal cell

MCknCLCG
GkCSS
" large red-brown and frequenLly undergo cysLlc
degeneraLlon
nIS1CLCG
" unlform oval mononuclear cells wlLh lndlsLlncL cell
membranes and appear Lo grow ln a syncyLlum
" necrosls, hemorrhage, hemoslderln deposlLlon and
reacLlve bone formaLlon are common

ML1AS1A1IC DISLASL
MosL common form of skeleLal mallgnancy
1umor cells elaboraLe prosLaglandlns, lLs, and paraLhyrold
hormone relaLed proLeln LhaL sLlmulaLe osLeoclasLlc bone
resorpLlon
Common meLasLaLlc orlgln:
o ln adulLs: cancers of Lhe prosLaLe, breasL, kldney, and lung
o ln chlldren: neuroblasLoma, Wllms Lumor, osLeosarcoma,
Lwlng sarcoma and rhabdomyosarcoma
MosL meLasLasls Lo Lhe bone are lyLlc


A1nCLCG CI 1nL ICIN1S

Ak1nkI1IS

CS1LCAk1nkI1IS (Degenerat|ve Io|nt D|sease)
More commonly seen ln Lhe elderly paLlenLs
MosL common Lype of [olnL dlsease
Cne of Lhe mosL dlsabllng condlLlons ln developlng counLrles
CharacLerlzed by progresslve eroslon of arLlcular carLllage
Wear and Lear of Lhe [olnLs
uependlng ln Lhe area LraumaLlzed, Lhe wear and Lear ls
greaLer, lndlvlduals wlLh meLabollc defecLs are more prone
Lo develop osLeoarLhrlLls
ln obese, heavy welghL persons- seen ln welghL-bearlng
[olnLs such as ln Lhe hlps, knees and ankles
ln Lennls players- elbows are affecLed, sLenographer- flngers
of Lhe hand are affecLed
Also causes Lhe knobby proLruslons aL Lhe marglns of Lhe
dlsLal lnLerphalangeal [olnLs, creaLlng nonLender,
subcuLaneous neberden nodes

A1nCGLNLSIS
" WlLh aglng, chondrocyLes capaclLy Lo malnLaln
carLllaglnous maLrlx slows
" Age-relaLed changes lnclude alLeraLlons ln Lhe conLenL of
proLeoglycans and collagen wlLhln arLlcular carLllage $
Lhere ls decreased reslllence and lncreased vulnerablllLy of
ln[ury $ under sLress of ln[ury, chondrocyLes elaboraLe
lnLerleukln 1, whlch lnlLlaLes maLrlx breakdown $
secondary medlaLors such as 1nl-a and Lransformlng
growLh facLor 8, enhance chondrocyLe lyLlc enzyme
release whlle lnhlblLlng maLrlx synLhesls
MCknCLCG
" roLeoglycan loss and decrease meLachromasla assoclaLed
wlLh chondrocyLe prollferaLlon and lncrease maLrlx
basophllla
age 8 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
" 1hlnnlng, flssurlng, plLLlng and flaklng of Lhe carLllage
develop, followed by verLlcal clefLs down Lo Lhe
subchondral bone
" llaklng of Lhe carLllage exposes underlylng bone
(eburnat|on), appears lvory-llke
" Subchondral fracLures develops and dlslodged pleces of
carLllage and bone Lumble lnLo Lhe [olnL formlng loose
bodles ([o|nt m|ce)
CLINICAL ILA1UkLS
" usually asympLomaLlc unLll 30s
" Mornlng sLlffness ln affecLed [olnLs, resLrlcLed 8CM, small
effuslons and creplLus


Osteoottbtltls. neoJ of femot wltb ootmol cottlloqe, os yoo qo op,
cottlloqe ls beloq temoveJ/ellmlooteJ becoose of tbls metobollc
Jeqeoetotlve JlsotJet. (1)botootloo of booe -smootbeoloq ooJ
botolsbloq of booe. (2)cystlc fotmotloo (sobcbooJtol cyst).
(J)Notmol cottlloqe


knLUMA1CID Ak1nkI1IS
lmmune medlaLed
Mechanlsm ls unknown
M:l raLlo, 1:3
Severe form of chronlc synovlLls leadlng Lo desLrucLlon and
ankylosls of affecLed [olnL
lnvolve anLlgen auLoanLlbodles deposlLlng ln Lhe [olnL
capsule creaLlng lnflammaLory response and laLer on creaLes
Lhls pannus consolldaLlon of lnflammaLory cells, necroLlc
Llssue debrls, lmmune cells and compllmenL whlch laLer
ellmlnaLes Lhe [olnL capsule and causes [olnL Lo be frozen and
lmmoblllzed because of pannus format|on
lamlllal assoclaLlon and a llnk wlLh PLA-u84 or u81
AffecLs small proxlmal [olnLs of Lhe hands and feeL, wrlsLs,
elbows, ankles, and knees
rodrome malalse, fever, faLlgue, musculoskeleLal paln may
be manlfesLed

A1nCGLNLSIS
" CurrenL besL hypoLhesls ls an auLolmmune dlsease
Lrlggered by exposure of a geneLlcally suscepLlble hosL Lo
an unknown arLhrlLogenlc anLlgen
" LpsLeln-8arr vlrus ls a prlme suspecL and reLrovlruses,
mycobacLerla, and 8orrella are also suspecLed
" Cnce lnflammaLory synovlLls ls lnlLlaLed, Cu4 cells are
acLlvaLed $ release of many cyLoklnes llke lL1 and 1nl-a
$ medlaLe lysls of arLlcular carLllage and sLlmulaLe
arLlcular bone resorpLlon
" AuLoanLlbodles (rheumaLold facLor) are produced agalnsL
lgC $ aLLacks lc porLlon of lgC
" 8heumaLold facLor lndlcaLes LhaL humoral lmmune
response also play an lmporLanL role ln Lhe dlsease
MCknCLCG
" Well developed leslons show vlllous hyperLrophy of Lhe
synovlum, synovlocyLlc hyperplasla, an lnLense
lymphocyLlc and hlsLlocyLlc synovlal lnfllLraLe and
numerous aggregaLes of organlzlng flbrln
" LxuberanL synovlum ls known as pannus, whlch evenLually
fllls Lhe [olnL spaces
" AccumulaLlon of neuLrophlls ln Lhe synovlal fluld
CLINICAL ILA1UkLS
" lnlLlally malalse, faLlgue and generallzed musculoskeleLal
paln Lhen [olnLs are lnvolved
" SympLoms usually develop ln Lhe small bones of Lhe hands
meLacarpophalangeal (MC), meLaLarsophalangeal (M1)
and proxlmal lnLerphalangeal (l) [olnLs followed by Lhe
wrlsLs, ankles, elbows, and knees.
" Cervlcal splne may also be lnvolved
" lnvolved [olnLs are swollen, warm, palnful, and parLlcularly
sLlff on lnacLlvlLy
" uesLrucLlon of llgamenLs, Lendons, and [olnL capsule
conLrlbuLe Lo characLerlsLlc deformlLles, lncludlng radlal
devlaLlon of Lhe wrlsL, ulnar devlaLlon of Lhe flngers and
flexlon-hyperexLenslon of Lhe flngers (swan neck,
bouLonnlere)
" Lnd resulL ls deformed [olnLs LhaL have no sLablllLy and
mlnlmal or no 8CM
" Large synovlal cysL (8aker cysL of Lhe posLerlor knee) may
develop as Lhe lncreased lnLra-arLlcular pressure causes
ouLpouchlng of synovlum
" ux ls made prlmarlly on Lhe cllnlcal feaLures and lncludes
Lhe presence of 4 of Lhe ff crlLerla: Mornlng sLlffness,
arLhrlLls ln Lhree or more [olnL areas, arLhrlLls of Lyplcal
hand [olnLs, symmeLrlc arLhrlLls, rheumaLold nodules,
serum rheumaLold facLor and radlographlc changes

IUVLNILL knLUMA1CID Ak1nkI1IS
Cccur ln younger lndlvlduals <16y/o
ArLhrlLls musL be presenL for a mlnlmum duraLlon of 6 weeks
2:1 female Lo male raLlo
oLenLlal exLra-arLlcular manlfesLaLlons can occur llke
perlcardlLls, myocardlLls, pulmonary flbrosls,
glomerulonephrlLls, uvelLls and growLh reLardaLlon
!8A vs. 8A :
o CllgoarLhrlLls (<3 [olnLs lnvolved) ls more common
o SysLemlc onseL ls more frequenL
o Large [olnLs are affecLed more Lhan small
o 8heumaLold nodules and rheumaLold facLor usually absenL
o AnLlnuclear anLlbody seroposlLlvlLy ls common


SLkCNLGA1IVL SCNDLCAk1nkCA1nILS
! Croup of dlseases LhaL develop ln geneLlcally predlsposed
lndlvlduals and are lnlLlaLed by envlronmenLal facLors,
especlally prlor lnfecLlons
! lmmune medlaLed and may be Lrlggered by 1-cell response Lo
unknown anLlgen
! Cllnlcally produce lnflammaLory perlpheral or axlal arLhrlLls
! lnclude ankyloslng spondyloarLhrlLls, reacLlve arLhrlLls and
psorlaLlc arLhrlLls whlch Lhey share overlapplng cllnlcal feaLures
and may be assoclaLed wlLh PLA-827 and a Lrlggerlng lnfecLlon

ANkLCSING SCNDLCAk1nkI1IS
Also known as 8heumaLold SpondyllLls and Marle-SLrumpell
dlsease
Chronlc lnflammaLlon of axlal [olnLs
lnflammaLlon of verLebrae and sacrolllac [olnLs $ knees,
shoulders, uvelLls, aorLlLls, amyloldosls
1 cells and anLlbody reacLs wlLh [olnL elemenLs
aLlenL presenL wlLh low back paln

kLAC1IVL Ak1nkI1IS
Lplsode of non-lnfecLlous arLhrlLls of Lhe appendlcular
skeleLon LhaL occurs wlLhln 1 monLh of a prlmary lnfecLlon
elsewhere ln Lhe body
MosL lnfecLlons are cenLered ln Lhe Cu1 (Chlamydla) and Cl1
(Shlgella, Salmonella, ?erslnla and CampylobacLer)
ke|ter syndrome comprlses Lrlad of arLhrlLls, non-gonococcal
ureLhrlLls or cervlclLls
AfLer Lhe lnfecLlon, Lhere ls an auLolmmune process LhaL
Lakes over, Lhe anLlbodles reacL wlLh Lhe Llssues ln Lhe
ureLhra, con[uncLlva and [olnL

SCkIA1IC Ak1nkI1IS
May also lead ln an anLlbody response ln around 10 of
psorlasls paLlenL buL generally, Lhe arLhrlLls ln psorlasls ls
mlld and noL serlously lncapaclLaLlng
usually affecLs Lhe small [olnLs of hands and feeL
lnflammaLlon of Lhe dlglLal Lendon sheaLh (sausage flnger)


age 9 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
INILC1ICUS Ak1nkI1IS
! Mlcroorganlsms of all Lypes can lodge ln [olnLs durlng
hemaLogenous dlssemlnaLlon
! ArLlcular sLrucLures become lnfecLed by dlrecL lnoculaLlon or
conLlguous spread from a sofL Llssue abscess or focus of
osLeomyellLls
! Can cause rapld desLrucLlon of Lhe [olnL and produce
permanenL deformlLles

SUUkA1IVL Ak1nkI1IS
Caused by gonococcus, sLaphylococcus, sLrepLococcus, P.
lnfluenzae, gram negaLlve collforms
lndlvlduals wlLh slckle cell dlsease are prone Lo salmonella
lnfecLlon
lnfluenza predomlnaLes ln chlldren <2y/o
SLaph aureus ln older chlldren and adulLs
Conococcus ln laLe adolescenL and early adulL llfe
Slngle [olnL ls affecLed, usually Lhe knee, followed by hlp
Conococcal arLhrlLls ls mosLly assoclaLed wlLh skln rash and a
geneLlc deflclency of C3, C6 or C7

1U8LkCULCUS Ak1nkI1IS
lnsldlous onseL and causes gradual progresslve paln
PemaLogenous spread or nearby Luberculous osLeomyellLls
MosL common slLe of lnfecLlon ls Lhe splne (oLL dlsease),
hlp, knees and ankles

LML Ak1nkI1IS
norLh Amerlcan dlsease
uerlved from Lhe whlLe-Lalled deer whlch conLalns Lhe Llck,
lxodes damlnl or Lxodes rlclnus
1hese Llck conLalns Lhe splrocheLe 8orrella burgdorferl and
Lhls splrocheLe when LransmlLLed Lo man wlll cause Lyme
dlsease
lnlLlally Lhere ls lnfecLlon of 8orrella burgdorferl and laLer
causlng an auLolmmune reacLlon cross reacLlng wlLh Lhe [olnL
lnlLlal skln lnfecLlon followed wlLhln several days or weeks by
dlssemlnaLlon of Lhe organlsm Lo oLher slLes ([olnLs)
1ends Lo be remlLLlng and mlgraLory and prlmarlly lnvolves
large [olnLs, especlally Lhe knees, shoulders, elbows, and
ankles
8esembles rheumaLold arLhrlLls ln arLlcular lnvolvemenL
Clears sponLaneously buL may resulL Lo permanenL
deformlLles

VIkAL Ak1nkI1IS
arvovlrus 819, rubella and hepaLlLls C vlrus
A varleLy of dlfferenL rheumaLlc condlLlons, lncludlng
reacLlve, psorlaLlc and sepLlc arLhrlLls have developed ln
paLlenLs wlLh Plv. 1he paLhogenesls of Lhese forms ls
suspecLed of belng slmllar Lo rheumaLold arLhrlLls


GCU1 AND GCU1 Ak1nkI1IS
! ArLlcular crysLal deposlLs are assoclaLed wlLh a varleLy of acuLe
and chronlc [olnL dlsorders
! urlne ls converLed lnLo urlc acld, Lhere ls accumulaLlon of urlc
acld due Lo enzyme defecL ln Lhe meLabollsm of purlne
! aLhogenlc endogenous crysLals: monosodlum uraLe (gouL),
calclum pyrophosphaLe dehydraLe and baslc calclum phosphaLe
(hydroxyapaLlLe)
! Lxogenous crysLals: corLlcosLerold esLer crysLals, Lalcum,
polyeLhylene and meLhyl meLhacrylaLe lnduce [olnL dlsease
! Lxogenous and endogenous crysLals produce dlsease by
Lrlggerlng Lhe cascade LhaL resulLs ln cyLoklne-medlaLed
carLllage desLrucLlon
! CouL: common endpolnL of a group of dlsorders LhaL produce
hyperurlcemla, marked by LranslenL aLLacks of acuLe arLhrlLls
lnlLlaLed by crysLalllzaLlon of uraLes wlLhln and abouL Lhe [olnLs,
leadlng evenLually Lo chronlc gouLy arLhrlLls and deposlLlon of
masses of uraLes ln [olnLs and oLher slLes, creaLlng Lophl
! 1ophl - conslsL of large aggregaLes of uraLe crysLals and Lhe
surroundlng lnflammaLory reacLlon
! urlc acld- paLhology ls once elevaLed, Lend Lo preclplLaLe ln
[olnLs because [olnL fluld ls less solvenL for urlc acld, once urlc
acld goes Lo [olnL, Lhey preclplLaLe as crysLals, creaLlng Lhe
arLhrlLls (monosodlum uraLe crysLal deposlLlon)
! ln hyperurlcemla, LreaLmenL ls by glvlng urlcosurlc drugs Lo
lower Lhe urlc acld levels

! r|mary and secondary forms ex|st:
! r|mary(90 of a|| cases):
Lnzyme defecLs unknown (83-90) = CverproducLlon of
urlc acld wlLh normal or lncreased excreLlon, or normal
producLlon of urlc acld wlLh underexcreLlon.
known enzyme defecLs (x-llnked, parLlal hypoxanLhlne-
guanlne phosphorlbosylLransferase PC81 deflclency) =
CverproducLlon of urlc acld

! Secondary(10 of a|| cases):
MosL are assoclaLed wlLh lncreased nuclelc acld Lurnover
whlch occurs wlLh polycyLhemla, leukemla and lymphoma
= CverproducLlon of urlc acld wlLh lncreased urlnary
excreLlon
ln chronlc renal dlsease = 8educed excreLlon of urlc acld
wlLh normal producLlon
lnborn errors of meLabollsm llke Lesch-nyhan syndrome
(CompleLe PC81 deflclency) = CverproducLlon of urlc
acld wlLh lncreased urlnary excreLlon

**PC81 deflclency leads Lo lncreased synLhesls of purlne
nucleoLldes Lhrough Lhe de novo paLhway, lncreaslng producLlon
of urlc acld.
**CompleLe lack of PC81 occurs ln Lhe uncommon x-llnked
Lesch-nyhan syndrome, seen only ln males, characLerlzed by
hyperurlcemla, severe neurologlc deflclLs wlLh menLal reLardaLlon,
self muLllaLlon, gouLy arLhrlLls

MCknCLCG
" needle shaped crysLals are befrlngemenL wlLh polarlzed
llghL
" CrysLals acLlvaLe facLor xll (Pageman facLor), wlLh Lhe
producLlon of chemoaLLracLanLs and lnflammaLory
medlaLors. neuLrophlls and macrophages accumulaLe ln
[olnLs and phagocyLose crysLals, leadlng Lo release of
lysosomal enzymes, Loxlc free radlcals, lL1, lL6, lL8, 1nl-
a, prosLaglandlns and leukoLrlenes whlch collecLlvely
produce acuLe synovlLls
" Chronlc arLhrlLls evolves from Lhe progresslve
preclplLaLlon of uraLes lnLo Lhe synovlal llnlngs of [olnLs
afLer recurrenL aLLacks of acuLe arLhrlLls
" 1ophus ls Lhe paLhognomonlc leslon of gouL - a mass of
uraLes, crysLalllne, or amorphous, surrounded by an
lnLense lnflammaLory reacLlon, composed of
macrophages, lymphocyLes, flbroblasLs and forelgn
body glanL cells. 1ophl Lend Lo occur on Lhe ear, ln Lhe
olecranon, and paLellar bursae and ln perlarLlcular
llgamenLs and connecLlve Llssue

CALCIUM kCnCSnA1L CkS1AL DLCSI1ICN DISLASL
! Also known as pseudogouL or chondrocalclnosls
! AssoclaLed wlLh lnLra-arLlcular crysLal formaLlon
! ueposlLlon of calclum pyrophosphaLe
! Many cllnlcopaLhologlc feaLures of Lhls dlsease are slmllar Lo
Lhose of gouL
! Can be sporadlc (ldlopaLhlc), heredlLary or secondary
! PeredlLary varlanL: Lhe crysLals develop early ln llfe, assoclaLed
dlsease ls relaLed Lo a muLaLlon ln Lhe AnkP gene (encodes a
Lransmembrane lnorganlc pyrophosphaLe LransporL channel)
! Secondary form: assoclaLed wlLh varlous dlsorders - prevlous
[olnL damage, hyperparaLhyroldlsm, hemochromaLosls,
hypomagnesemla, hypoLhyroldlsm, ochronosls and dlabeLes
! CondlLlons leadlng Lo crysLal formaLlon are noL enLlrely known
buL lnclude alLered acLlvlLy of Lhe maLrlx enzymes LhaL produce
and degrade pyrophosphaLe, resulLlng ln lLs accumulaLlon and
evenLual crysLalllzaLlon wlLh calclum
! ueposlLs appear as oval aggregaLes of basophlllc sLalnlng
rhombold crysLals


1UMCk AND 1UMCk-LIkL LLSICNS
age 10 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan

GANGLICN AND SNCVIAL CS1
A gangllon cysL ls small abouL 1-1.3cm, mulLlloculaLed,
cavlLaLed (cysLlc) leslon found ln connecLlve Llssue of [olnL
capsules or Lendon sheaLhs
lL arlses from a focus of myxold degeneraLlon and sofLenlng
of connecLlve Llssues
lavored locaLlon ls [olnLs of wrlsL, where gangllons are
palpaLed as a flrm buL yleldlng, pea-slzed superflclal nodule
1he leslons are easlly LreaLable by surglcal removal
PernlaLlons of a synovlum may occur, parLlcularly lnLo Lhe
popllLeal space from Lhe knee [olnL (8aker cysL) when Lhere ls
marked lncrease of lnLra-arLlcular fluld or exudaLes, as ln
rheumaLold or suppuraLlve arLhrlLls

IGMLN1LD VILLCNCDULAk SNCVI1IS AND GIAN1 CLLL
1UMCk CI 1LNDCN SnLA1n
lnvolves synovlal membrane and Lendons usually of
perlpheral [olnLs
lgmenLed vlllonodular synovlLls - lnvolves Lhe synovlum of a
[olnL, lnvolves one or more [olnLs dlffusely, presenL as
monoarLlcular arLhrlLls LhaL affecLs Lhe knee.
o Can cause paln, locklng, and recurrenL swelllng
o 1umor progresslon llmlLs Lhe range of movemenL of Lhe
[olnLs and causes lL Lo become sLlff and flrm
o Slgnlflcance recurrence raLe because lL ls dlfflculL Lo exclse
ClanL cell Lumor - Cccur as dlscreLe nodule on a Lendon
sheaLh, manlfesLs as a sollLary, slow-growlng, palnless mass
LhaL frequenLly lnvolves Lhe Lendon sheaLhs along Lhe wrlsLs
and flngers
o MosL common mesenchymal neoplasm of Lhe hand
o CfLen recurs locally

MCknCLCG
" vnS and CC1 are boLh red-brown Lo moLLled orange-
yellow
" 1umor cells ln boLh leslon are polyhedral, moderaLely
slzed, and resemble synovlocyLes
" Pemoslderln deposlLs, foamy macrophages,
mulLlnucleaLed glanL cells and zones of sclerosls
" vnS - normally smooLh [olnL synovlum, mosL ofLen of Lhe
knee $ Langled maL by red-brown folds, flngerllke
pro[ecLlons and nodules
" CC1 - locallzed and well clrcumscrlbed and resembles a
small walnuL, cells grow ln a solld nodular aggregaLe LhaL
may be aLLached Lo Lhe synovlum by a pedlcle


Ctoss oppeotooce of plqmeoteJ vllloooJolot syoovltls. lofolJloq,
floqet-llke qtowtb of tbe coooectlve tlssoe otoooJ tbe copsole of tbe
jolots, o tomot, oot o teoctlve ptocess. Altbooqb oome soqqests o
loflommototy/teoctlve ptocess, tbe lesloo ls teolly o tomot boseJ oo
tbe stoJles of tbe cell ooJ coostoot qeoetlc obootmolltles ooteJ lo
tbe lesloos.


llqmeoteJ vllloooJolot syoovltls. llqmeot, toooJ cell, oocleos oot
bypetcbtomotlc, oot pleomotpblc.


A1nCLCG CI SCI1 1ISSULS

SCI1 1ISSUL 1UMCkS AND 1UMCk LIkL LLSICNS
! Mesenchymal prollferaLlon ln exLraskeleLal, noneplLhellal
Llssues of Lhe body, excepL Lhe vlscera, braln coverlngs,
lymphoreLlcular sysLem
! Classlfled accordlng Lo Lhe Llssue Lhey recaplLulaLe (muscle, faL,
flbrous Llssue, vessels and nerves

IA11 1UMCkS

LICMA
MosL common benlgn sofL Llssue Lumor of adulLs
Common on back, shoulder, neck, medlasLlnum,
reLroperlLoneum, or bowel wall
uellcaLely encapsulaLed, usually small Lumors recaplLulaLlng
adulL adlpose Llssue
SofL, moblle, palnless (excepL anglollpoma), usually cured by
slmple exclslon
PlsLologlcally conslsL of maLure whlLe faL cells wlLh no
pleomorphlsm
Chromosomal abnormallLles: convenLlonal llpomas ofLen
show rearrangemenLs of 12q14-13, 6p and 13q, splndle cell
and pleomorphlc llpomas have rearrangemenLs of 16q and
13q

LICSAkCCMA
MosL arlse ln deep sofL Llssues and pursue a course closely
dependenL on Lhelr morphologlc feaLures
1he well-dlfferenLlaLed varlanL ls relaLlvely lndolenL , Lhe
myxold Lype ls lnLermedlaLe ln lLs mallgnanL behavlor and Lhe
round cell and pleomorphlc varlanLs usually are aggresslve
and frequenLly meLasLaslze
All Lypes of llposarcoma recur locally and ofLen repeaLedly
unless adequaLely exclsed

MCknCLCG
nIS1CLCG
" Cells ln well-dlfferenLlaLed are readlly recognlzed as
llpocyLes
" ln oLher varlanLs, mosL of Lhe Lumor cells are noL obvlously
adlpogenlc, buL some cells lndlcaLlve of faLLy
dlfferenLlaLlon are presenL. 1hese are llpoblasLs, Lhey
mlmlc feLal faL cells and conLaln round clear cyLoplasmlc
vacuoles of llpld. Myxold and round cell varlanL has a
L(12,16) chromosomal abnormallLy


II8kCUS 1UMCkS AND 1UMCk-LIkL LLSICNS

kLAC1IVL SLUDCSAkCCMA1CUS kCLIILkA1ICNS
! non-neoplasLlc leslons
! ln response Lo some form of local Lrauma (physlcal or lschemlc)
or are ldlopaLhlc
! Composed of plump reacLlve flbroblasLs or relaLed
mesenchymal cells
! 8epresenLaLlve of Lhls famlly of leslons are nodular fascllLls and
myoslLls osslflcans

NCDULAk IASCII1IS
Also known as seudosarcoma fascllLls
age 11 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
8eacLlve benlgn flbroprollferaLlve
Common ln young and mlddle-aged
alpable nodules or small masses, mosL ofLen ln exLremlLles
AfLer a perlod of rapld growLh, Lhe Lumors Lend Lo plaLeau ln
slze, lndlcaLlng cessaLlon of growLh

MCknCLCG
nIS1CLCG
" 1hey are composed of splndled flbroblasLs and
myoflbroblasLs ln a loose myxold background
resembllng culLured flbroblasLs
" Some of Lhe more acLlve cells are enlarged and have
promlnenL nuclel and nucleoll


NoJolot fosclltls. 8eolqo lesloo wltb obooJoot sttomo betweeo cells
tbot ote scotteteJ, w/ oocleos smoll, teqolot lo slze, oot pleomotpblc,
oot bypetcbtomotlc

MCSI1IS CSSIIICANS
1umor-llke leslon relaLed Lo Lrauma
lavored locaLlons are Lhe exLremlLles, parLlcularly Lhe
quadrlceps or brachlalls muscle
ulsLlngulshed from oLher flbroblasLlc prollferaLlons by Lhe
presence of meLaplasLlc bone

MCknCLCG
" Leslons are clrcumscrlbed buL unencapsulaLed
" 1hey have zonal paLLern and are composed of cenLral
reglon of prollferaLlng flbroblasLs and myoflbroblasLs ln a
myxold sLroma
" ConLalns poorly formed Lrabeculae of woven bone, ofLen
mlnerallzed, and rlmmed by large meLabollcally acLlve
osLeoblasLs


II8kCMA1CSLS

SULkIICIAL II8kCMA1CSIS (ALMAk, LAN1Ak, AND LNILL
II8kCMA1CSLS)
llbroprollferaLlve, benlgn leslon
almar flbromaLosls $ Dupuytren contracture
enlle flbromaLosls $ eyron|e d|sease
Causes curvaLures on Lhe dorsum of Lhe shafL or
consLrlcLlons of Lhe ureLhral meaLus
1reaLmenL: have Lo be surglcally correcLed

DLL-SLA1LD II8kCMA1CSIS (DLSMCID 1UMCkS)
lnfllLraLlve masses ln abdomlnal, exLra abdomlnal, and
lnLraabdomlnal (Cardner syndrome) locaLlons
LxuberanL flbroprollferaLlve leslons and low grade
flbrosarcomas, more aggresslve Lumors buL noL mallgnanL
8anal Lame-looklng flbroblasLs, arranged ln broad sweeplng
fasclcles LhaL lnfllLraLe Lhe nelghborlng Llssue
uo noL meLasLaslze buL lnvaslve and have Lhe Lendency Lo
recur afLer surglcal removal

II8kCSAkCCMA
! Cccur ln deep sofL Llssue and are gray, sofL (flsh-flesh
conslsLency) masses wlLh lncreased cellularlLy, anaplasla, hlgh
nuclear-cyLoplasmlc raLlos
! Common ln Lhe ovary and LeeLh
! AbundanL mlLoLlc flgures and sp|nd|ed growth |n a herr|ngbone
pattern
! llbrosarcoma ofLen are large masses LhaL appear decepLlvely
encapsulaLed buL are lnfllLraLlve


II8kCnIS1ICC1IC 1UMCkS
! ConLaln cellular elemenLs LhaL resemble boLh flbroblasLs and
hlsLlocyLes

8LNIGN II8kCUS nIS1ICC1CMA (DLkMA1CII8kCMA)
Mlsnomer, noL a hlsLlocyLe buL a flbrous Llssue
unencapsulaLed buL well - demarcaLed
8enlgn skln $ dermaLoflbromas
vascular leslon $ scleroslng hemangloma
alnless, slow growlng, flrm, small (up Lo 1cm), moblle
nodule ln Lhe dermls and subcuLls
Composed of flbroblasLs, myoflbroblasLs and hlsLlocyLes
Pemoslderln plgmenL, benlgn glanL cells and llpld-laden
foamy cells
8enlgn leslons predomlnanLly occur ln Lhe skln

MALIGNAN1 II8kCUS nIS1ICC1CMA
SofL Llssue sarcoma characLerlzed by conslderable cyLologlc
pleomorphlsm, presence of blzarre mulLlnucleaLe cells and
sLorlform paLLern
henoLype ls flbroblasLlc noL hlsLlocyLlc
CuLaneous varlanLs: aLyplcal flbroxanLhomas

MCknCLCG
" Large, gray-whlLe, unencapsulaLed masses, appear
decepLlvely clrcumscrlbed
" CaLegorlzed lnLo sLorlform-pleomorphlc, myxold,
lnflammaLory, glanL cell and anglomaLold varlanLs based
on hlsLologlc feaLures
" SLorlform-pleomorphlc, composed of mallgnanL splndle
cells orlenLed ln a sLorlform paLLern wlLh scaLLered, large,
round, pleomorphlc cells


nlstoloqy. Mollqooot flbtoos blstlocytomo. (-) pleomotpblsm, bos
moltloocleoteJ cells tbot ote ottooqeJ lo Jlffeteot
otleototloos!wbotlloq potteto (stotlfotm potteto)


1UMCkS CI SkLLL1AL MUSCLL
! AlmosL all are mallgnanL
! 8habdomyoma (benlgn varlanL) ls dlsLlncLly rare

8PA8uCM?CSA8CCMA
MosL common sofL Llssue sarcoma ln chlldren
CyLogenlc abnormallLles lnclude L(2,13)(q33,14)and
L(1,13)(q36,q14) LranslocaLlons
Common ln head and neck and urogenlLal reglons whereln
Lhere are less sLrlaLed muscles., also occur ln body cavlLles
8habdomyoblasL - Lhe dlagnosLlc cell ln all Lypes conLalns
eccenLrlc eoslnophlllc granular cyLoplasm rlch ln Lhlck and
Lhln fllamenLs, round or elongaLe (Ladpole or sLrap cells and
may conLaln cross-sLrlaLlons vlslble by llghL mlcroscopy and
lmmunohlsLochemlcally sarcomeres sLaln wlLh anLlbodles Lo
Lhe myogenlc markers desmln, M?Cu1 and myogenln
Subdlvlded lnLo Lhree ma[or Lypes based on morphologlc
feaLures:
o Lmbryona| (|nc|ud|ng botyro|d and sp|nd|e var|ants)
o A|veo|ar
o |eomorph|c
rognosls: boLyrold shape>embryonal>pleomorphlc>alveolar

age 12 of 12 LlM, 8eynaldo LUG1U, au| M|chae| V|ncent MAGLASANG, N|kk| Lou|se ALlnLS, !acquellne uenlse L8LZ, Adrlan
SINCC, Lmma Concepc|on 1ARAuA, Carlo 8en[amln 1A88CZA, MarLh Loule 1LnCCC, 1rlsLan
Lmbryona| rhabdomyosarcoma: mosL common Lype
o Sarcoma boLyroldes and splndle cell varlanLs
o Chlldren <10y/o
o nasal cavlLy, orblL, mlddle ear and prosLaLe
o Ma[or genomlc abnormallLy: loss of chromosome 11p 13.3
o Sarcoma boLyroldes - develops ln Lhe wall of hollow,
mucosa-llned sLrucLures llke vaglna, bladder, common blle
ducL and nasopharynx
o MosL embryonal rhabdomyosarcoma presenLs as a sofL
gray lnfllLraLlve mass. 1he Lumor cells mlmlc skeleLal
muscle cells aL varlous sLages of embryogenesls and
conslsL of sheeLs of boLh mallgnanL round and splndled
cells
o Sarcoma boLyroldes grows ln polypold fashlon appears as
clusLer of grapes proLrudlng ln a hollow sLrucLure, lL forms
a submucosal zone of hypercellularlLy known as camblum
layer ( vlslble cross-sLrlaLlons)

A|veo|ar rhabdomyosarcoma - common ln early Lo mld-
adolescence
ueep musculaLure of exLremlLles
1umor Lraversed by a neLwork of flbrous sepLae LhaL dlvlde
Lhe cells lnLo clusLers or aggregaLes, a crude resemblance Lo
pulmonary alveolae ls creaLed

|eomorph|c rhabdomyosarcoma: rare varlanL
CharacLerlzed by numerous, large someLlmes
mulLlnucleaLed, blzarre eoslnophlllc Lumor cells
Can resemble mallgnanL flbrous hlsLlocyLoma hlsLologlcally

**8habdomyoma - benlgn and very rare, occurs ln Lhe hearL
parLlcularly ln Lhe valves of Lhe hearL

mbtyoool tbobJomyosotcomo. cootolos tbobJomyoblosts, sploJle-
sbopeJ
cells/ toJpole cells. looqoteJ wltb ctoss sttlotloos.
lmmooocbemlstty. Jesmlo-btloqs oot tbe sttlotloos of moscles


Alveolot tbobJomyosotcomo. 5ollJ tomots loltlolly tbot ote
sepototeJ by coooectlve tlssoe septoe, tbey ote eocloseJ by tbe
coooectlve tlssoe septoe, sooo tomot wlll slooqbeJ off leovloq tbose
tbot ote ottocbeJ to coooectlve tlssoe, cteotloq spoces temlolsceot
of tbe olveoll of tbe looqs. lt bos tbe wotst ptoqoosls.


1UMCkS CI 1nL SMCC1n MUSCLL

LLICMCMA
8enlgn smooLh muscle Lumors
Arlse ln Lhe uLerus where Lhey represenL Lhe mosL common
neoplasms ln women
May arlse also ln erecLor plll muscles found ln Lhe skln,
nlpples, scroLum, and labla
**llar lelomyomas: frequenLly mulLlple and palnful
1umor cells have blunL-ended, elongaLed nuclel and show
mlnlmal aLypla
SollLary leslons are easlly cured

LLICMCSAkCCMA
uncommon and mallgnanL, l>M
MosL develop ln skln and deep sofL Llssue
1hey are usually large, sofL, gray masses of splndle cells wlLh
clgar-shaped nuclel
varlanLs may be myxold or eplLhelold
Superflclal leslons ofLen can be exclsed, deep Lumors are
lnvaslve and rarely resecLable
alnless flrm masses
MallgnanL smooLh muscle cells conLaln bundles of Lhln
fllamenLs wlLh dense bodles and plnocyLlc veslcles and
lndlvldual cells are surrounded by basal lamlna
lmmunohlsLochemlcally Lhey sLaln wlLh anLlbodles Lo
vlmenLln, acLln and desmln

SNCVIAL SAkCCMA
! 8eclprocal LranslocaLlon beLween chromosomes L(x ,18)
(p11.2,q11.2)
! Commonly occur around Lhe [olnLs, parapharyngeal reglons,
abdomlnal wall
! usually presenL wlLh a deep-seaLed mass LhaL has been noLed
for several years
! 8lphaslc paLLern of cell growLh$ Lhere's eplLhellal and
mesenchymal componenLs
Mesenchymal componenL: splndle-shaped cells
surroundlng Lhe leslon
LplLhellal componenL: gland-llke sLrucLure scaLLered
! Monophaslc: noL Lyplcal, wlLh only one componenL and ls more
dlfflculL Lo dlagnose
! 1o esLabllsh Lhe dlagnosls, do an lmmunohlsLochemlcal LesL
slnce Lumor cells yleld poslLlve reacLlons for keraLln and
eplLhellal membrane anLlgen dlfferenLlaLlng Lhese Lumors from
mosL oLher sarcomas

-----1ACS-----


A-8A1l!!!
Super blg Lhank you Lo mlk for maklng all Lhe hardshlps for Lhls
Lrans. MWuAP!

1hank you pala aLe gayle and mommy nlhz sa audlo recordlngs..










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