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Laporan Kasus Neurofibromatosis
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Laporan Kasus Neurofibromatosis
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Ahmad Abqari
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LAPORAN KASUS Neurofibromatosi Neurofibromatosi
s
Disusun oleh : Ahmad Abqari Sumartono 2017011!
Pembimbin" : dr# $ndan" %ri &ah'uni( S)#KK( *#Kes
+LUD RS S$KAR& S$K AR&AN,AN,.AKUL%AS K$DOK%$RAN DAN K$S$/A%AN UN-$RS-%AS *U/A**AD- *U/ A**AD-A/ A/ AKAR%A AKAR%A 2017
STATUS PENYAKIT KULIT DAN KELAMIN TANGGAL
: 28 Agustus 20!
NAMA
: A"e# Perma$a
UMU%
: 2! ta&u$
'ENIS KELAMIN
: (a)i*(a)i
AGAMA
: Is(am
PEKE%'AAN
: buru& &aria$ (e#as
ANAMNESIS
: Autoa$am$esis
STATUS
: be(um me$i)a&
KELU+AN UTAMA
: ,S- Date$g .e$ga$ ber"a) /ar$a "o)(at )e&itama$ #a.a
s#u$ggu$g ba.a$ .a$ mu)a a.a be$1o(a$
.ia(ami os (ebi& )ura$g .a(am ta&u$ i$i
ter)a.a$g terasa gata(KELU+AN TAM3A+AN
:*
%I4AYAT PE%'ALANAN PENYAKIT : A/a($5a timbu( bi$ti( bi$ti( "o)(at )e&itama$ #a.a .aera& #u$ggu$g )emu.ia$ bi$ti( bi$ti( i$i tumbu& .i #erut .a.a .a$ 1uga )e/a1a& )a.a$g )a.a$g terasa gata( .a$ &a( i$i te(a& .ia(ami o(e& os (ebi& )ura$g .a(am ta&u$ %I4AYAT PENYAKIT KELUA%GA
: ti.a) .i1um#ai
%I4AYAT PENYAKIT TE%DA+ULU
: ti.a) .i1um#ai
%I4AYAT PEMAKAIAN ,3AT
:*
L,KALISASI
: .orsa("or#us ster$um .a$ regio fa"ia(is
E6L,%ESENSI
: Pa#u( &i#er#igme$tasi No.u( &i#er#igme$tasi 6(e) &i#er#igme$tasi P(a7ue &i#er#igme$tasi
%ESUME -,S .ata$g .e$ga$ ber"a) /ar$a "o)(at )e&itama$ #a.a s#u$ggu$g ba.a$ .a$ mu)a a.a be$1o(a$ .ia(ami os (ebi& )ura$g .a(am ta&u$ i$i- A/a($5a timbu( bi$ti( bi$ti( "o)(at )e&itama$ #a.a .aera& #u$ggu$g )emu.ia$ bi$ti( bi$ti( i$i tumbu& .i #erut .a.a .a$ 1uga )e/a1a& )a.a$g )a.a$g terasa gata( - (o)asi #a.a .orsa("or#us ster$um regio .a$ fa"ia(is - Diag$osa
: Neurofibromatosis
Pe$ata(a)sa$aa$ : "eterie$ $eurosa$be
A$a(isis )asus Diag$osis i$i .itega))a$ ber.asar)a$ a$am$esis .a$ #emeri)saa$ fisi) .ima$a #a.a a$am$esis .itemu)a$ bi$ti) "o)(at 5a$g timbu( .i se(uru& ba.a$ &a( sesuai .e$ga$ )e#usta)aa$ 5a$g me$5ata)a$ tem#at #re.i(e)si .ari $eurofibromatosis i$i .a#at me$ge$ai se(uru& oraga$ )u(it .a$ seri$g ter1a.i #a.a usia a$a) a$a) sam#ai #a.a .e/asaPa.a )asus i$i os me$gata)a$ ba&/a bebera#a ge$erasi )e(uarga sebe(um$5a ti.a) a.a 5a$g me$.erita #e$5a)it seru#a &a( i$i sesuai )e#usta)aa$ 5a$g me$5ata)a$ ba&/a #e$5a)it i$i .a#at beru#a #e$5a)it mutasi ge$eti) 5a$g a)a$ .i ba&as .i teori
Gambar #asie$
TEORI PENDA+ULUAN Neurofibromatosis 9 penyakit von Recklinghausen a.a(a& #e$5a)it 5a$g .itu(ar)a$ se"ara ge$eti) .ima$a neurofibroma mu$"u( #a.a )u(it .a$ bagia$ tubu& (ai$$5a-
Neurofibroma a.a(a& be$1o(a$ se#erti .agi$g 5a$g (embut 5a$g berasa( .ari 1ari$ga$ saraf Neurofibroma meru#a)a$ #ertumbu&a$ .ari sel Schwann 9#e$g&asi( se(ubu$g saraf atau mielin .a$ se( (ai$$5a 5a$g me$ge(i(i$gi .a$ me$5o)o$g saraf-saraf tepi 9 saraf perifer saraf 5a$g bera.a .i(uar ota) .a$ medula spinalis-
Pertumbu&a$ i$i biasa$5a mu(ai mu$"u( sete(a& masa #ubertas .a$ bisa .irasa)a$ .iba/a& )u(it sebagai be$1o(a$ )e"i( Neurofibroma a.a(a& be$1o(a$ 9tumor 5a$g berisi 1ari$ga$ saraf .a$ bersifat 1i$a) Neurofibroma meru#a)a$ tumor saraf terseri$g Neurofibroma #a.a ba$5a) (o)asi .i tubu& .a#at ter1a.i #a.a Neurofibromatosis ;o$ %e")(i$g&ause$- Defi$isi A.a(a& #e$5a)it )u(it .e$ga$ ge1a(a beru#a tumor mu(ti#e( 5a$g #a.a #erabaa$ (u$a) .a$ .isertai ge1a(a (ai$- Neurofibromatosis 9N6 meru#a)a$ suatu )e(ai$a$ ge$eti) mu(tisistem 5a$g ter)ait .e$ga$ ma$ifestasi )uta$eus $euro(ogis .a$ orto#e.i- N6 se$.iri .ibe.a)a$ me$1a.i .ua 1e$is 5a)$i $eurofibromatosis ti#e 9N6 5a$g seri$g
1uga
.i)e$a(
.e$ga$
isti(a&
#e$5a)it
%e")(i$g&ause$
.a$
$eurofibromatosis ti#e 2 9N62- N6 .a$ N6 2 .ituru$)a$ se"ara autosoma( .omi$a$ .i ma$a i$.i
=- E#i.emio(ogi Pe$5a)it i$i mema$g mu$g)i$ bermutasi me$1a.i )a$)er ta#i ti$g)at )e1a.ia$$5a sa$gat )e"i( 9=*>?- Pe$a$ga$a$ #e$5a)it i$i (ebi& )e me$gatasi ge1a(a*ge1a(a$5aMisa($5a )emu$g)i$a$ a.a$5a ab$orma(itas #a.a #embe$tu)a$ tu(a$g .a#at .imi$ima(isir 1i)a #e$5a)it i$i bisa .i.ete)si saat #e$.erita masi& .a(am usia #ertumbu&a$ 9a$a)*a$a)- Tumor 5a$g tumbu& 1uga bisa .ibua$g (e/at o#erasiPre
a- Ge$eti) N6 ber&ubu$ga$ .e$ga$ ge$eti) autosome 5a$g .omi$a$t 5a$g mu$g)i$ .ituru$)a$ .ari ge$erasi sebe(um$5a se&i$gga seri$g ti.a) ter.iag$osa .a$ seri$g .ituru$)a$ o(e& ora$g tua #erem#ua$ .ari #a.a ora$g tua (a)i (a)i- Da$ seri$g 1uga .isebab)a$ o(e& a.a$5a mutasi #a. (o)us )romosom ! u$tu) N6 ti#e I ter.a#at $eurofibri$ 5a$g be)er1a me$gura$gi #ro.u) #roto$ o$)oge$ ras #*2 .a$ a)a$ me$i$g)at)a$ #roses mitoge$i) se&i$gga ter1a.i #ertumbu&a$ tumor 5a$g ba$5a) .a$ a$g)a mutasi $5a se)itar 2@ sam#ai 0 0 *> tia# ge$erasi- N6 2 ter.a#at mer(i$ 5a$g .am#a)$5a ber#e$garu& ter&a.a# a)ti
>- Patoge$esis Neurofibroma meru#a)a$ #ertumbu&a$ .ari se( S"&/a$$ 9#e$g&asi( se(ubu$g saraf atau mie(i$ .a$ se( (ai$$5a 5a$g me$ge(i(i$gi .a$ me$5o)o$g saraf*saraf te#i 9saraf #erifer saraf 5a$g bera.a .i(uar ota) .a$ me.u(a s#i$a(is- Pertumbu&a$ i$i biasa$5a mu(ai mu$"u( sete(a& masa #ubertas .a$ bisa .irasa)a$ .iba/a& )u(it sebagai be$1o(a$ )e"i(- Se)itar se#ertiga #e$.erita ti.a) me$ge(u&)a$ a.a$5a ge1a(a .a$ #e$5a)it i$i #ertama )a(i ter.iag$osis )eti)a #a.a #emeri)saa$ fisi) .itemu)a$ a.a$5a be$1o(a$ .iba/a& )u(it .i .e)at saraf- N6 ber&ubu$ga$ .e$ga$ ge$eti) autosome 5a$g .omi$a$t 5a$g mu$g)i$ .ituru$)a$ .ari ge$erasi sebe(um$5a se&i$gga seri$g ti.a) ter.iag$osa .a$ seri$g .ituru$)a$ o(e& ora$g tua #erem#ua$ .ari #a.a ora$g tua (a)i (a)i- Da$ seri$g 1uga .isebab)a$ o(e& a.a$5a mutasi #a. (o)us )romosom ! u$tu) N6 ti#e I ter.a#at $eurofibri$ 5a$g be)er1a me$gura$gi #ro.u) #roto$ o$)oge$ ras #*2 .a$ a)a$ me$i$g)at)a$ #roses mitoge$i) se&i$gga ter1a.i #ertumbu&a$ tumor 5a$g ba$5a) .a$ a$g)a mutasi $5a se)itar 2@ sam#ai 0 0 *> tia# ge$erasi- N6 2 ter.a#at mer(i$ 5a$g .am#a)$5a ber#e$garu& ter&a.a# a)ti
!- Gambara$ )(i$is %uam $5a .a#at beru#a $o.u( (e$ti)u(er sam#ai $ummu(ar .e$ga$ #ermu)aa$ (i"i$ /ar$a "o)(at #erabaa$ (u$a) 1i)a .ite)a$ .a#at ter1a.i "e)u$ga$ )e.a(am tumor .a$ a)a$ me$g&i(a$g 1i)a .i (e#as- No.u( &i#er#igme$tasi ma)u(a #(a)at ta) teratur berbatas ti.a) tegas .a$ )a.a$g )a.a$g se.i)it me$o$1o( .i atas )u(itSe)itar se#ertiga #e$.erita ti.a) me$ge(u&)a$ a.a$5a ge1a(a .a$ #e$5a)it i$i #ertama )a(i ter.iag$osis )eti)a #a.a #emeri)saa$ fisi) .itemu)a$ a.a$5a be$1o(a$ .iba/a& )u(it .i .e)at saraf- Pa.a se#ertiga #e$.erita (ai$$5a #e$5a)it i$i ter.iag$osis )eti)a #e$.erita$5a berobat u$tu) masa(a& )osmeti)- Tam#a) bi$ti)*bi$ti) )u(it 5a$g ber/ar$a "o)(at .i .a.a #u$ggu$g #i$ggu( si)ut .a$ (utut- 3i$ti)*bi$ti) i$i bisa .itemu)a$ #a.a saat a$a) (a&ir atau baru timbu( #a.a masa ba5i- Pa.a usia 0*> ta&u$ mu(ai mu$"u( berbagai u)ura$ .a$ be$tu) $eurofibromatosis .i )u(it- 'um(a&$5a bisa )ura$g .ari 0 atau bisa me$"a#ai ribua$3i$ti) "afe*au (ait beru)ura$ besar Pa.a bebera#a #e$.erita #ertumbu&a$ i$i me$imbu()a$ masa(a& .a(am )era$g)a tubu& se#erti )e(ai$a$ (e$g)u$g tu(a$g be(a)a$g 9)ifos)o(iosis )e(ai$a$ be$tu) tu(a$g iga #embesara$ tu(a$g #a$1a$g #a.a (e$ga$ .a$ tu$g)ai serta )e(ai$a$ tu(a$g te$g)ora) .a$ .i se)itar mataSe#ertiga sisa$5a memi(i)i )e(ai$a$ $euro(ogis Neurofibromatosis bisa me$ge$ai setia# saraf tubu& teta#i seri$g tumbu& .i a)ar saraf s#i$a(is- Neurofibroma me$e)a$ saraf te#i se&i$gga me$gga$ggu fu$gsi$5a 5a$g $orma( Neurofibroma 5a$g me$ge$ai saraf*saraf .i )e#a(a bisa me$5ebab)a$ )ebutaa$ #usi$g tu(i .a$ ga$ggua$ )oor.i$asi- Sema)i$ ba$5a) $eurofibroma 5a$g tumbu& ma)a sema)i$ )om#(e)s )e(ai$a$ saraf 5a$g .itimbu()a$$5a- 'e$is $eurofibromatosis 5a$g (ebi& 1ara$g a.a(a& $eurofibromatosis 1e$is 2 .ima$a ter1a.i #ertumbu&a$ tumor .i te(i$ga$ bagia$ .a(am 9$euroma a)usti)- Tumor i$i bisa me$5ebab)a$ tu(i .a$ )a.a$g #usi$g #a.a usia 20 ta&u$-
8- +isto#ato(ogi
E#i.ermis : &5#er)eratosis .a$ a)a$tosis- Dermis : massa tumor ter.iri .ari massa fibri(ar )o(age$ #a.at .i.a(am$5a ter.a#at se( se( bu(at .a$ se( se( )um#ara$- Da$ #e/ar$aa$ )&usus ter(i&at serbut serabut saraf 5a$g terse(ubu$g .a$ ta) terse(ubu$g-
B- Diag$osis Diag$osis .itega))a$ ber.asar)a$ ge1a(a*ge1a(a .a$ &asi( #emeri)saa$ fisi)0- Diag$osis ba$.i$g 6ibrosar)oma Ne
- Kom#(i)asi Neurofibroma .a#at beru(a$gC 3erbe$tu) )ura$g bagus biasa$5a me$gge(a5ut 9me$ari) )e ba/a& )e(o#a) mata &i.u$g mu(ut .a$ sebagai$5a se&i$gga mu$g)i$ #er(u )o$su(tasi .e$ga$ .o)ter be.a& #(asti) u$tu) tera#i (ebi& (a$1utC Ter.a#at )e"e$.eru$ga$ u$tu) me$1a.i ga$as2- Pe$ata(a)sa$aa$ Pe$ata(a)sa$aa$ umum Me$1aga )ebersi&a$ .a$ ma$.i mi$ima( .ua )a(i se&ariPe$ata(a)sa$aa$ )&usus To#i)a( Umum$5a .ibiar)a$ 1i)a ti.a) me$gga$gguC Di(a)u)a$ #embe.a&a$ 1i)a &a$5a .itemu)a$ satu be$1o(a$C 'i)a .itemu)a$ ba$5a) be$1o(a$ .i#er(u)a$ #ersi#a$ (ebi& mata$g u$tu) #embe.a&a$$5a 9e)sisi #a(iatif u$tu) me$i(ai (ebi& (a$1ut saraf 5a$g mu$g)i$ ter(ibatC 3i(a $eurofibroma ti.a) me$ge$ai serabut saraf besar saraf 5a$g me$ga$.u$g tumor biasa$5a .io#erasi- 3i(a ter)e$a serabut saraf besar ma)a ma)a tumor .i#isa&)a$ .ari serabut saraf (a(u )emu.ia$ .ia$g)at atau .ibiar)a$ bi(a ti.a) a.a )e(u&a$-
Pe$gobata$ sistemi) Umum$5a ti.a) a.a teta#i bi(a ter1a.i gata( #a.a ruam .a#at .i beri)a$ a$ti &istami$e=- Prog$osis Prog$osis #a.a #asie$ $eurofibromatosis terga$tu$g #a.a (uas $5a ruam teta#i umum$5a )ura$g bai)-
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