Kanker Payudara

Kanker payudara adalah momok yang menakutkan bagi setiap wanita. Padahal dari tahun ke tahun jumlah penderitanya terus bertambah. Di Indonesia, kanker payudara menempati urutan ke-2 dari jenis kanker yang menyerang wanita. Kanker payudara dapat juga mengenai kaum pria, meskipun sangat jarang. Hanya sekitar 1 saja. !ebenarnya apakah kanker itu" !etiap benjolan yang terjadi di tubuh kita, karena berbagai sebab #pertumbuhan sel berlebih, benturan$trauma dll% disebut tumor. &umor sendiri ada yang bersi'at jinak, adapula yang ganas. &umor yang ganas inilah yang disebut kanker. Kanker memiliki si'at khas, yaitu terdiri dari sel-sel ganas, yang dapat menyebar ke bagian tubuh yang lain. Penyebaran ini disebut metastase dan dapat terjadi melalui pembuluh darah, maupun pembuluh getah bening.

Anatomi Payudara
Profil Payudara: A. Duktus B. (obules C. )agian duktus yang dilatasi untuk menahan susu D. Puting susu E. *aringan lemak F. +tot Pektoralis mayor G. Dinding dada,&ulang rusuk Pembesaran A. !el-sel duktus normal B. ,embran dasar C. (umen #Pusat duktus% Penyebab dan Faktor Resiko Penyebab pasti kanker payudara belum diketahui, namun terdapat beberapa keadaan yang dianggap dapat meningkatkan 'aktor resiko terjadinya kanker payudara. ,eskipun demikian, tidak berarti mereka yang tidak memiliki 'aktor resiko, tidak dapat terkena kanker payudara. Faktor-faktor resiko kanker payudara antara lain:

,emiliki anggota keluarga yang menderita kanker payudara #ibu, nenek, saudara perempuan% ,ens pertama pada usia muda, menopause yang terlambat -anita yang tidak punya anak, atau melahirkan anak pertama pada usia . /0 tahun. Pernah terdapat tumor$kanker payudara sebelumnya ,endapatkan terapi pengganti hormon jangka panjang 1aktor-'aktor lain2 obesitas$konsumsi tinggi lemak, konsumsi alkohol berlebih, mutasi genetik

Beberapa mitos tentan kanker payudara: 1. Kanker payudara hanya mengenai wanita usia tua ,itos ini tidak benar, kanker payudara dapat terjadi pada usia berapapun. ,emang resiko lebih tinggi pada yang usianya lebih tua. 3amun paradigma ini mulai bergeser. 2. *ika seseorang memiliki 'aktor risiko, maka ia pasti terkena kanker payudara.

,itos ini tidak benar, meskipun seseorang punya 'aktor resiko yang paling besar sekalipun, masih ada kemungkinan ia tidak terkena kanker payudara. )egitu pula pada orang-orang yang tidak punya 'aktor resiko, bisa saja terkena kanker payudara. /. Penggunaan deodoran$antiperspiran dapat menimbulkan kanker payudara ,itos ini tidak benar. !ampai saat ini, tidak ada penelitian yang dapat membuktikan bahwa penggunaan antiperspiran dapat menimbulkan kanker payudara

Pemeriksaan Payudara
4ntuk deteksi adanya kanker payudara dilakukan2 !. "ADAR# $perik"A payuDAra sendiR#% !ebaiknya pemeriksaan dilakukan sehabis selesai masa menstruasi. !ebelum menstruasi #5-10 hari setelah menstruasi hari pertama%, payudara agak membengkak sehingga menyulitkan pemeriksaan. 6aranya 2 a. &i'at adanya kelainan pada payudara seperti:

7danya benjolan Kulit bersisik sekitar puting Puting susu keluar darah$8airan lain 6ekungan pada kulit payudara$seperti kulit jeruk Perubahan bentuk$ukuran

b. (ika tidak terli'at kelainan) lakukan pemeriksaan la i den an *ara: Pemeriksaan +edik) Pemeriksaan Payudara se8ara berkala oleh tenaga medis #dokter%

,. Pemeriksaan Penun-an
Pemeriksaan payudara dengan alat-alat penunjang seperti mamogra'i, 4!9, biopsi +amo rafi adalah pemeriksaan payudara dengan suatu alat dan merupakan suatu 8ara pemeriksaan yang sederhana, tidak sakit dan hanya memakan waktu : - 10 menit saja. !aat terbaik untuk menjalani pemeriksaan mamogra'i adalah seminggu setelah selesai menstruasi. 6aranya adalah meletakkan payudara se8ara bergantian antara 2 lembar alas, kemudian dibuat 'oto rontgen dari atas ke bawah, kemudian dari kiri ke kanan. Hasil 'oto ini akan diperiksa oleh dokter ahli radiologi. !ebuah benjolan sebesar 0,2: 8m sudah dapat terlihat pada mamogram. -anita usia ;0-;< tahun sebaiknya diperiksa setiap 2 tahun sekali, sedangkan usia .:0 tahun , sebaiknya diperiksa se8ara berkala tiap tahun. ."G 2 pemeriksaan 4!9 pada payudara, bukan untuk tujuan skrining, melainkan untuk lebih meyakinkan. 7lat 4!9nya pun harus khusus. Biopsi adalah operasi ke8il untuk mengambil 8ontoh jaringan dari benjolan, kemudian diperiksa di bawah mikroskop laboratorium patologi anatomi Pro nosis

=ang disebut dengan prognosis adalah gambaran berat ringannya suatu penyakit. &erdapat beberapa 'aktor yang menentukan baik buruknya prognosis pada kanker payudara. 7ntara lain2

!tadium kanker !tatus nodus 9ambaran histology !tatus menopausal, dan reseptor hormonal

"tadium Kanker
!tadium kanker payudara biasanya ditentukan dengan sistem &3,, &> ukuran tumor, 3> kelenjar getah bening yang terlibat, ,> metastasis "tadium / $0in situ1% &erdapat sel- sel kanker , namun belum terjadi in?asi pada jaringan sekitarnya "tadium # 4kuran tumor @ 28m dan tidak ada penyebaran ke kelenjar getah bening "tadium ##, terdiri dari2 "tadium ##A 4kuran tumor 2-:8m, tidak ada penyebaran pada kelenjar getah bening atau ukuran tumor, @28m namun terdapat penyebaran pada kelenjar getah bening ketiak, sesisi dengan tumor dan masih dapat digerakkan "tadium ##B 4kuran tumor .:8m, tidak ada penyebaran pada kelenjar getah bening atau ukuran tumor 2-:8m, namun terdapat penyebaran pada kelenjar getah bening ketiak sesisi dan masih dapat digerakkan "tadium ###, terdiri dari2 "tadium ###A 4kuran tumor .:8m, dengan penyebaran pada kelenjar getah bening sesisi namun tidak dapat digerakkan "tadium ###B 4kuran tumor berapapun, namun meluas pada dinding dada dan kulit atau disertai penyebaran pada kelenjar getah bening mamaria interna. &ermasuk Kanker Payudara in'lamasi. "tadium #2 4kuran tumor berapapun, dengan penyebaran pada kelenjar getah bening baik pada ketiak, mamaria interna, bahkan suprakla?ikular dan disertai penyebaran jauh #metastasis% seperti pada hati, paru, otak, tulang dll. !emakin tinggi stadiumnya tentu saja prognosisnya semakin buruk. "tatus 3odus

7dalah adanya keterlibatan$penyebaran pada kelenjar getah bening. !emakin banyak kelenjar getah bening yang terkena, prognosisnya semakin buruk. Prognosis juga makin buruk jika kelenjar getah bening yang terkena itu pada sisi tubuh yang berseberangan dengan letak tumor, juga bila melekat, dan tidak dapat digerakkan. Gambaran 4istolo i 9ambaran histologi yang makin buruk, maka prognosisnya juga semakin buruk "tatus +enopausal dan Reseptor 4ormonal !tatus menopausal dan reseptor hormonal berperan dalam penentuan terapi. !ebagian besar pasien yang telah menopause #postmenopause% memiliki reseptor hormonal positi', sehingga berespon terhadap terapi hormonal. !e8ara umum kelompok dengan hormonal reseptor positi' memiliki prognosis yang lebih baik. 5erapi Kanker Payudara Penentuan terapi kanker payudara tergantung dari banyak 'aktor, stadium tumor, status nodus, usia, status menopausal, status reseptor dan gambaran histologi tumor. )erbagai pemeriksaan dibutuhkan untuk menentukan terapi yang paling sesuai. &erapi yang diberikan berupa terapi primer, juga terdapat terapi neoadju?ant #terapi yang diberikan sebelum terapi primer, biasanya bertujuan untuk menge8ilkan massa tumor% dan terapi adju?ant #terapi yang diberikan setelah terapi primer% &erapi bisa berupa pembedahan #mastektomi, operasi konser?asi payudara, lumpektomi%, radiasi, kemoterapi maupun terapi hormonal. DI!-,9&$web$7rtikel 00A$/1$02$0: )ahan 2 1. 6an8er 9uidan8e !ub-group o' the 6lini8al +ut8omes 9roup. Impro?ing out8omes in breast 8an8er. &hree do8uments2 &he manualB &he Cesear8h D?iden8eB and guidan8e 'or general pra8titioners and primary 8are teams. (ondon2 3H! DEe8uti?e, Department o' Health, 1<<A. 2. &he )reast !pe8ialty 9roup o' the )ritish 7sso8iation o' !urgi8al +n8ology. 9uidelines 'or surgeons in the management o' symptomati8 breast disease in the 4nited Kingdom #1<<F re?ision%. Duropean *ournal o' !urgi8al +n8ology, 1<<FB 2;2 ;A;-5A. /. Coyal 6ollege o' Cadiologists 6lini8al +n8ology In'ormation 3etwork. 9uidelines on the non-surgi8al management o' breast 8an8er. 6lini8al +n8ology, 1<<<B112 !<0-!1//. )reast 8an8er. 6an8er In'ormation se8tion o' 4! 3ational 6an8er Institute web site2 www.n8i.nih.go? ;. &he +E'ord &eEtbook o' +n8ology. Dds2Cobert !ouhami, Ian &anno8k, Peter Hohenberger, G *ean-6laude Horiot. Publisher2 +E'ord 4ni?ersity Press, 2001. I!)32 0-1<-2A2<2A-/ 6. 5'e Ameri*an Can*er "o*iety website 8ontains a des8ription o' the di''erent types o' early breast 8an8er dete8tion methods, in8luding breast sel' eEamination at http2$$www.8an8er.org$ 7. "usan G. Komen Breast 4ealt' pro?ides in'ormation on breast sel'-eEam. )reast sel'-eEam shower 8ards 8an also be ordered at http2$$www.breast8an8erin'o.8om$ 8. BD) #n*. #)e8ton Di8kinson% distributes the 1D7 appro?ed !ensability breast pad2 a so't reusable pad designed 'or women to use while pra8ti8ing monthly breast sel'-eEamination #)!D%. 6omposed o' two plasti8 sheets with liHuid lubri8ant sealed inside, the pad helps redu8e 'ri8tion between a womanIs 'ingers and her breast, enhan8ing her sense o' tou8h during the eEam. &he !ensability pad may be pur8hased online or 'rom stores su8h as K-,art, -algreens, and -al-,art. &he 8ost o' the pad is approEimately J2<.<< at these stores,

and most pa8kages in8lude a J: manu'a8turerIs rebate. Kisit #http2$$www.bd.8om$sensability$% or 8all 1.FFF.)D67CD! 'or more in'ormation F. &he ?ideo 0"tayin in 5ou*': 4o9 to Do :our +ont'ly Breast "elf-E;amination)1 in8ludes in'ormation 'rom the 7meri8an 6an8er !o8iety and demonstrates the proper te8hniHue 'or breast-sel' eEamination. Dr. *ohn 1etting, ,D, 6o-Dire8tor o' the *ohns Hopkins )reast 6enter, *oy8e +I!haughnessy, ,D o' the 3ational 6an8er Institute and 3an8y )rinker, 1ounding 6hair o' the !usan 9. Komen )reast 6an8er 1oundation and breast 8an8er sur?i?or, des8ribe steps women 8an take to dete8t breast 8an8er at its earliest, most treatable stages. <. &he L!taying in &ou8hM ?ideo 8lip is 1: minutes long #1;2:5% and is a?ailable 'or online ?iewing at www.msnb8.8om$news$2012F<.asp. &he 8lips may be downloaded o?er the Internet and ?iewed on your 8omputer using a 'ree multi-media plug-in su8h as -indows ,edia Player, at your 8hoi8e o' Internet 8onne8tion speed #2F.F, :A.A, &1%. Parental Warning: this ?ideo graphi8ally shows women per'orming breast sel'-eEams. 10. &he ?ideo 0For :ourself: a Guide to Breast "elf-E;amination1 was 8reated by the +emorial "loanKetterin Can*er Center and the 9uttman Diagnosti8 6enter. &he ?ideo is narrated by Cita ,oreno, *essye 3orman and ,eryl !treep. &he ?ideo is eight minutes long #F20;%. 7 8opy o' the ?ideo may be ordered 'rom ,emorial !loan Kettering at http2$$www.msk88.org$. !!. 5'e Ameri*an +edi*al Asso*iation page on womenIs health and breast 8an8er in8ludes in'ormation about breast sel'-eEam and other methods o' early dete8tion su8h as mammography2 http2$$www.ama-assn.org$ !,. <omen=s 4ealt' Produ*ts distributes the 1D7 appro?ed 7ware breast pad whi8h 8an enhan8e a womanIs sense o' tou8h while per'orming breast sel'-eEams. &he 7ware pad 8onsists o' two ten-in8h plasti8 sheets with a sili8one lubri8ant sealed inside. &he 7ware pad is reusable and guaranteed 'or the li'e o' the produ8t. &he pad also 8ontains a hole near the top so that it may be hung in the bathroom and an opaHue bag i' women pre'er to tu8k it in a lingerie drawer. &he 7ware pad may be pur8hased 'or J1<.<< at http2$$awarebse.8om$ or by 8alling 1.F55.<.7-7CD.1

3e*k disse*tion
1rom -ikipedia, the 'ree en8y8lopedia *ump to2 na?igation, sear8h &he ne*k disse*tion is a surgi8al pro8edure 'or 8ontrol o' ne8k lymph node metastasis 'rom sHuamous 8ell 8ar8inoma #"CC% o' the head and ne8k. &he aim o' the pro8edure is to remo?e lymph nodes 'rom one side o' the ne8k into whi8h 8an8er 8ells may ha?e migrated. ,etastasis o' sHuamous 8ell 8ar8inoma into the lymph nodes o' the ne8k redu8e sur?i?al and is the most important 'a8tor in the spread o' the disease. &he metastases may originate 'rom !66 o' the upper aerodigesti?e tra8t, in8luding the oral 8a?ity, tongue, nasopharynE, oropharynE, hypopharynE, and larynE, as well as the thyroid, parotid and posterior s8alp.

>edit? 4istory of 3e*k Disse*tions

1FFF - *awdynski des8ribed en blo8 rese8tion with rese8tion o' 8arotid, internal jugular ?ein and sterno8leidomastoid mus8le. 1<0A - 9eorge -. 6rile o' the 6le?eland 6lini8 des8ribes the radi8al ne8k disse8tion. &he operation en8ompasses remo?al o' all the lymph nodes on one side o' the ne8k, and in8ludes remo?al o' the spinal a88essory ner?e #"A3%, internal jugular ?ein ##(2% and sterno8leidomastoid mus8le #"C+%. 1<:5 - Hayes ,artin des8ribes routine use o' the radi8al ne8k disse8tion 'or 8ontrol o' ne8k metastases. 1<A5 - +s8ar !uareN and D. )o88a des8ribe a more 8onser?ati?e operation whi8h preser?es !73, I*K and !6,. (ast / de8ades - 1urther operations ha?e been des8ribed to sele8ti?ely remo?e the in?ol?ed regional lymph groups, in8luding the remarkable new approa8h by Kisakan et al.

>edit? Di@ision of t'e 3e*k into &e@els and "uble@els

,emorial !loan-Kettering 6an8er 6enter de?eloped the lymph node regional de'initions most widely used today. &o des8ribe the lymph nodes o' the ne8k 'or ne8k disse8tion, the ne8k is di?ided into A areas 8alled Levels. &he le?els are identi'ied by Coman numeral, in8reasing towards the 8hest. 7 'urther (e?el KII to denote lymph node groups in the superior mediastinum is no longer used. Instead, lymph nodes in other non-ne8k regions are re'erred to by the name o' their spe8i'i8 nodal groups.

Cegion I2 !ubmental and submandibular triangles. Ia is the submental triangle bound by the anterior bellies o' the digastri8 and the mylohyoid. Ib is the triangle 'ormed by the anterior and posterior bellies o' the digastri8 and body o' mandible.

Cegion II, III, IK2 nodes asso8iated with the I*KB 'ibroadipose tissue lo8ated medial to the posterior border o' !6, and lateral to the border o' the sternohyoid.

Cegion II2 upper third in8luding the upper jugular and jugulodigastri8 nodes and the upper posterior 8er?i8al nodes. Cegion bound by the digastri8 mus8le superiorly and the hyoid bone #8lini8al landmark% or the 8arotid bi'ur8ation #surgi8al landmark% in'eriorly. IIa 8ontains nodes in the region anterior to the spinal a88essory ner?e and IIb posterior to the ner?e. Cegion III2 middle third jugular nodes eEtending 'rom the 8arotid bi'ur8ation superiorly to the 8ri8othyroid not8h #8lini8al landmark% or omohyoid mus8le #surgi8al landmark%. Cegion IK2 lower jugular nodes eEtending 'rom the omohyoid mus8le superiorly to the 8la?i8le in'eriorly. Cegion K2 posterior triangle group o' lymph nodes lo8ated along the lower hal' o' the spinal a88essory ner?e and the trans?erse 8er?i8al artery. &he supra8la?i8ular nodes are also in8luded in this group. &he

posterior boundary is the anterior border o' the trapeNius mus8le, the anterior boundary is the posterior border o' the sterno8leidomastoid mus8le, and the in'erior boundary is the 8la?i8le.

Cegion KI2 anterior 8ompartment group 8omprises lymph nodes surrounding the midline ?is8eral stru8tures o' the ne8k eEtending 'rom the le?el o' the hyoid bone superiorly to the suprasternal not8h in'eriorly. +n ea8h side, the lateral boundary is the medial border o' the 8arotid sheath. (o8ated within this 8ompartment are the perithyroidal lymph nodes, paratra8heal lymph nodes, lymph nodes along the re8urrent laryngeal ner?es, and pre8ri8oid lymph nodes. ;

>edit? "ta in
&he staging o' head and ne8k 8an8er in8ludes a 8lassi'i8ation 'or nodal disease. It is important to note the 8riti8al di''eren8e in siNe o' nodes with break points at / and A 8m. &he staging system 'or head and ne8k malignan8ies 8onsiders all malignan8ies with palpable 8er?i8al adenopathy as !tage / or !tage ;, re'le8ting the grim prognosti8 impli8ations o' palpable nodal disease. 2 &he most important prognosti8 indi8ator in patients with sHuamous 8ar8inoma o' the head and ne8k remains the status o' the 8er?i8al lymph nodes. / 3O2 Cegional lymph nodes 8annot be assessed 302 3o regional lymph node metastasis 312 ,etastasis in a single ipsilateral lymph node, / 8m or less in greatest dimension 32a2 ,etastasis in a single ipsilateral lymph node more than / 8m but not more than A 8m in greatest dimension 32b2 ,etastasis in multiple ipsilateral lymph nodes, none more than A 8m in greatest dimension 3282 ,etastasis in bilateral or 8ontralateral nodes, no more than A 8m in greatest dimension 3/2 ,etastasis in a lymph node more than A 8m in greatest dimension 2

>edit? Classifi*ation of 3e*k Disse*tions

&he 2001 re?isions proposed by the 7meri8an Head and 3e8k !o8iety #7H3!% and the 7meri8an 78ademy o' +tolaryngology-Head and 3e8k !urgery #77+-H3!% are as 'ollows. 1. Radi*al 3e*k Disse*tion #R3D% - remo?al o' all ipsilateral 8er?i8al lymph node groups 'rom le?els I through K, together with !73, !6, and I*K. 2. +odified Radi*al 3e*k Disse*tion #+R3D% - remo?al o' all lymph node groups routinely remo?ed in a C3D, but with preser?ation o' one or more nonlymphati8 stru8tures #!73, !6, and I*K%. /. "ele*ti@e 3e*k Disse*tion #"3D% #together with the use o' parentheses to denote the le?els or suble?els remo?ed% - 8er?i8al lymphadene8tomy with preser?ation o' one or more lymph node groups that are routinely remo?ed in a C3D. &hus 'or oral 8a?ity 8an8ers, !3D #I-III% is 8ommonly per'ormed. 1or oropharyngeal, hypopharyngeal and laryngeal 8an8ers, !3D #II-IK% is the pro8edure o' 8hoi8e. ;. E;tended 3e*k Disse*tion - &his re'ers to remo?al o' one or more additional lymph node groups or nonlymphati8 stru8tures, or both, not en8ompassed by the C3D. &he radi8al ne8k disse8tion is de'ined as remo?ing all o' the lymphati8 tissue in regions I-K in8luding remo?al o' the spinal a88essory ner?e, #!73%, sterno8leidomastoid mus8le #!6,%, and internal jugular ?ein #I*K%. It does not in8lude remo?al o' the subo88ipital nodes, periparotid nodes eE8ept 'or in'raparotid nodes lo8ated in the posterior aspe8t o' the submandibular triangle, bu88al nodes, retropharyngeal nodes, or paratra8heal nodes. ; ,odi'ied radi8al ne8k disse8tion #,C3D% is de'ined as eE8ision o' all lymph nodes routinely remo?ed by radi8al ne8k disse8tion with preser?ation o' one or more nonlymphati8 stru8tures, i.e., !73, I*K, !6,. ;

,edina sub8lassi'ies the ,C3D into types I-IIIB where type I ,C3D preser?es the !73, type II ,C3D preser?es the !73 and I*K, and type III ,C3D preser?es the !73, I*K, and !6,. &he type III ,C3D is also re'erred to as the P'un8tional ne8k disse8tionP as populariNed by )o88a, howe?er in his 8lassi8 des8ription the submandibular gland is not eE8ised. : !ele8ti?e ne8k disse8tion is de'ined as any type o' 8er?i8al lymphadene8tomy where there is preser?ation o' one or more lymph node groups remo?ed by the radi8al ne8k disse8tion. &here are 'our 8ommon subtypes, the 'irst o' whi8h is the supraomohyoid ne8k disse8tion. &his remo?es lymph tissue 8ontained in regions I-III. &he posterior limit o' the disse8tion is marked by the 8utaneous bran8hes o' the 8er?i8al pleEus and the posterior border o' the !6,. &he in'erior limit is the superior belly o' the omohyoid mus8le where it 8rosses the I*K. &he se8ond subtype, posterolateral ne8k disse8tion, re'ers to the remo?al o' the subo88ipital lymph nodes, retroauri8ular lymph nodes, le?els II-IK, and le?el K. &his pro8edure is used most o'ten to remo?e nodal disease 'rom 8utaneous melanoma o' the posterior s8alp and ne8k. ; +riginally des8ribed by Co8hlin in 1<A2, the !73, !6,, and I*K were preser?ed. ,edina suggests sub8lassi'i8ation o' the posteriolateral ne8k disse8tion to types I-III to mirror preser?ation o' !73, I*K, and !6, as in ,C3D. : &he lateral ne8k disse8tion remo?es lymph tissue in le?els II-IK. 7nterior ne8k disse8tion is the last subtype o' sele8ti?e ne8k disse8tion and re'ers to the remo?al o' lymph nodes surrounding the ?is8eral stru8tures o' the anterior aspe8t o' the ne8k pre?iously de'ined as le?el KI.; &he last major subtype is the eEtended ne8k disse8tion de'ined literally as remo?al o' one or more additional lymph node groups and$or nonlymphati8 stru8tures not en8ompassed by radi8al ne8k disse8tion, su8h as parapharyngeal, superior mediastinal, and paratra8heal. In pra8ti8e, any o' the pre?ious ne8k disse8tions may be eEtended to in8lude other stru8tures. -ith those de'initions in pla8e, the e?olution and 8urrent indi8ations o' the ?arious ne8k disse8tions shall be dis8ussed
?QdQe

AperationsBsur eries and ot'er pro*edures of t'e 'emi* and lymp'ati* system $#CD-C-C+ 2D E/-E!%
(ymphati8 system (ymphadene8tomy F 3e*k disse*tion F Cetroperitoneal lymph node disse8tion

)one marrow and !tem 8ell transplantation$Hematopoieti8 stem 8ell transplantation F !plene8tomy spleen Imaging (ymphogram 6hromatin immunopre8ipitation F Immunodi''usion #+u8hterlony double Immunopre8ipitationimmunodi''usion, Cadial immunodi''usion, Immunoele8trophoresis, 6ounterimmunoele8trophoresis% Immunologi8 te8hniHues Immunoassay and tests F serology$ diagnosti8 7gglutination immunology +ther D(I!7 F D(I!P+& F DnNyme ,ultiplied Immunoassay &e8hniHue F C7!& test F Cadioimmunoassay F Immuno'luores8en8e Hemagglutination$Hemagglutinin #6oombs test% F (ateE 'iEation test 3ephelometry F 6omplement 'iEation test F Immuno8yto8hemistry F Immunohisto8hemistry #Dire8t 'luores8ent antibody% F Dpitope mapping F !kin allergy test F Pat8h test

,2 (,6 ,2 (,+

8ell$phys$auag$auab anat#h, u, t, a, l%$phys

imd'$ipig$hyps$tumr lydi$spdi$thdi$thtu$?atu

pro8, drug#(/$;% pro8

Cetrie?ed 'rom Phttp2$$en.wikipedia.org$wiki$3e8kRdisse8tionP 6ategories2 !urgi8al on8ology S !urgi8al pro8edures S +tolaryngology

5ri eminal neural ia

1rom -ikipedia, the 'ree en8y8lopedia *ump to2 na?igation, sear8h See also: Atypical trigeminal neuralgia

5ri eminal neural ia

Classification and external resources

Detailed ?iew o' trigeminal ner?e, shown in yellow. #CD-!/ #CD-C DiseasesDB e+edi*ine +e"4 9:0.0, 9;;.F;5 /:0.1 1//A/ emerg$A15 D01;255

5ri eminal neural ia $53%, tic douloureuxT1U #also known as prosopalgia% is a neuropathi8 disorder 8hara8teriNed by episodes o' intense pain in the 'a8e. +riginating in one or both o' the trigeminal ner?es, this pain may be 'elt in any or all o' the 'ollowing2 the ear, eye, lips, nose, s8alp, 'orehead, le't indeE 'inger, teeth, or jaw on one side and alongside o' the 'a8eBT2U it is not easily 8ontrolled or 8ured.T/U It is estimated that 1 in 1:,000 people su''er 'rom trigeminal neuralgia, although the a8tual 'igure may be signi'i8antly higher due to 'reHuent misdiagnosis. In a majority o' 8ases, &3 symptoms begin appearing a'ter the age o' :0, although there ha?e been 8ases with patients being as young as three years o' age. It is more 8ommon in 'emales. T;U. &3 brings about stabbing, mind-numbing painB this may be 'rom a tou8h to the a''e8ted area, but in many patients the pain is generated spontaneously without any apparent stimulation. 6old wind, high pit8hed sounds, loud noises su8h as 8on8erts or 8rowds, 8hewing, and talking 8an aggra?ate the 8ondition. D?en smiling, wearing a s8ar', or 'eeling the wind or hair on the side o' the 'a8e 8an be too mu8h to bear. )e8ause the se?ere pain does not always respond to treatment, in eEtreme 8ases sui8ide is not an un8ommon response.T:UTAU

>edit? "i ns and symptoms

&he disorder is 8hara8terised by episodes o' intense 'a8ial pain that last 'rom a 'ew se8onds to se?eral minutes or hours. &he episodes o' intense pain may o88ur paroEysmally. &o des8ribe the pain sensation, patients may des8ribe a trigger area on the 'a8e so sensiti?e that tou8hing or e?en air 8urrents 8an trigger an episode. It

a''e8ts li'estyle as it 8an be triggered by 8ommon a8ti?ities su8h as eating, talking, sha?ing and toothbrushing. &he atta8ks are said by those a''e8ted to 'eel like stabbing ele8tri8 sho8ks, burning, pressing, 8rushing, eEploding or shooting pain that be8omes intra8table. Indi?idual atta8ks usually a''e8t one side o' the 'a8e at a time, lasting 'rom se?eral se8onds to a 'ew minutes and repeat up to hundreds o' times throughout the day. &he pain also tends to o88ur in 8y8les with remissions lasting months or e?en years. 10-12 o' 8ases are bilateral, or o88urring on both sides. &his normally indi8ates problems with both trigeminal ner?es sin8e one ser?es stri8tly the le't side o' the 'a8e and the other ser?es the right side. Pain atta8ks typi8ally worsen in 'reHuen8y or se?erity o?er time. ,any patients de?elop the pain in one bran8h, then o?er years the pain will tra?el through the other ner?e bran8hes. +utwardly ?isible signs o' &3 8an sometimes be seen in males who may deliberately miss an area o' their 'a8e when sha?ing, in order to a?oid triggering an episode. !u88essi?e re8urren8es are in8apa8itating and the dread o' pro?oking an atta8k may make su''erers unable to engage in normal daily a8ti?ities. &here is also a ?ariant o' trigeminal neuralgia 8alled atypi8al trigeminal neuralgia. In some 8ases o' atypi8al trigeminal neuralgia the su''erer eEperien8es a se?ere, relentless underlying pain similar to a migraine in addition to the stabbing sho8k-like pains. &his ?ariant is o'ten 8alled Ptrigeminal neuralgia, type 2PT5U, based on a re8ent 8lassi'i8ation o' 'a8ial painTFU. In other 8ases, the pain is stabbing and intense but may 'eel like burning or pri8kling, rather than a sho8k. !ometimes the pain is a 8ombination o' sho8k-like sensations, migraine-like pain and burning or pri8kling pain. It 8an also 'eel as i' a boring pier8ing pain is unrelenting. !ome re8ent studies suggest that 7&3 may be an early de?elopment o' &rigeminal 3euralgia.

>edit? Cause
&he trigeminal ner?e is the 'i'th 8ranial ner?e, a miEed 8ranial ner?e responsible 'or sensory data su8h as ta8tition #pressure%, thermo8eption #temperature%, and no8i8eption #pain% originating 'rom the 'a8e abo?e the jawlineB it is also responsible 'or the motor 'un8tion o' the mus8les o' masti8ation, the mus8les in?ol?ed in 8hewing but not 'a8ial eEpression. !e?eral theories eEist to eEplain the possible 8auses o' this pain syndrome. It was on8e belie?ed that the ner?e was 8ompressed in the opening 'rom the inside to the outside o' the skullB but newer leading resear8h indi8ates that it is an enlarged blood ?essel - possibly the superior 8erebellar artery - 8ompressing or throbbing against the mi8ro?as8ulature o' the trigeminal ner?e near its 8onne8tion with the pons. !u8h a 8ompression 8an injure the ner?eVs prote8ti?e myelin sheath and 8ause errati8 and hypera8ti?e 'un8tioning o' the ner?e. &his 8an lead to pain atta8ks at the slightest stimulation o' any area ser?ed by the ner?e as well as hinder the ner?eVs ability to shut o'' the pain signals a'ter the stimulation ends. &his type o' injury may rarely be 8aused by an aneurysm #an outpou8hing o' a blood ?essel%B by a tumorB by an ara8hnoid 8yst in the 8erebellopontine angleT<UB or by a traumati8 e?ent su8h as a 8ar a88ident or e?en a tongue pier8ing.T10U 7 large portion o' multiple s8lerosis patients ha?e &3, but not e?eryone with &3 has ,!. +nly two to 'our per8ent o' patients with &3,Tcitation neededU usually younger,Tcitation neededU ha?e e?iden8e o' multiple s8lerosis, whi8h may damage either the trigeminal ner?e or other related parts o' the brain. It has been theoriNed that this is due to damage to the spinal trigeminal 8ompleE.T11U &rigeminal pain has a similar presentation in patients with and without ,!.T12U Postherpeti8 3euralgia, whi8h o88urs a'ter shingles, may 8ause similar symptoms i' the trigeminal ner?e is damaged. -hen there is no stru8tural 8ause, the syndrome is 8alled idiopathi8.

>edit? 5reatment

7s with many 8onditions without 8lear physi8al or laboratory diagnosis, &3 is un'ortunately sometimes misdiagnosed. 7 &3 su''erer will sometimes seek the help o' numerous 8lini8ians be'ore a 'irm diagnosis is made. &here is e?iden8e that points towards the need to Hui8kly treat and diagnose trigeminal neuralgia #&3%. It is thought that the longer a patient su''ers 'rom &3, the harder it may be to re?erse the neural pathways asso8iated with the pain. Dentists who suspe8t &3 should pro8eed in the most 8onser?ati?e manner possible and should ensure that all tooth stru8tures are PtrulyP 8ompromised be'ore per'orming eEtra8tions or other pro8edures.

[edit] Medications

7nti8on?ulsants are a 8ommon treatment strategy 'or trigeminal neuralgia. 6arbamaNepine is the 'irst line drugB se8ond line drugs in8lude ba8lo'en, lamotrigine, oE8arbaNepine, phenytoin, gabapentin, and sodium ?alproate. 4n8ontrolled trials ha?e suggested that 8lonaNepam and lido8aine may be e''e8ti?e.T1/U (ow doses o' some antidepressants su8h as amytriptiline are thought to be e''e8ti?e in treating neuropathi8 pain, but a tremendous amount o' 8ontro?ersy eEists on this topi8, and their use is o'ten limited to treating the depression that is asso8iated with 8hroni8 pain, rather than the a8tual sensation o' pain 'rom the trigeminal ner?e. )otoE 8an be inje8ted into the ner?e by a physi8ian, and has been 'ound help'ul using the PmigraineP pattern adapted to the patientVs spe8ial needs. Patients may also 'ind relie' by ha?ing their neurologist implant a neuro-stimulator.

,any patients 8annot tolerate medi8ations 'or years, and an alternati?e treatment is to take a drug su8h as gabapentin and apply it eEternally. &his preparation is prepared eEtemporaneously by pharma8ists. 7lso help'ul is taking a Pdrug holidayP when remissions o88ur and rotating medi8ations i' one be8omes ine''e8ti?e.

+piates su8h as morphine and oEy8odone 8an be pres8ribed, and there is e?iden8e o' their e''e8ti?eness on neuropathi8 pain, espe8ially i' 8ombined with gabapentin.T1;UT1:U 7 8ase report 'ound sumatriptan e''e8ti?e in the management o' drug-resistant &rigeminal 3euralgia T1AU

[edit] Surgery
!urgery may be re8ommended, either to relie?e the pressure on the ner?e or to sele8ti?ely damage it in su8h a way as to disrupt pain signals 'rom getting through to the brain. In trained hands, surgery has been reported to ha?e an initial su88ess rate approa8hing <0 per8ent. Howe?er, some patients reHuire 'ollow-up pro8edures i' a re8urren8e o' the pain begins. +' the 'i?e surgi8al options, the mi8ro?as8ular de8ompression, also known as the *anetta pro8edureT15U, is the only one aimed at 'iEing the presumed 8ause o' the pain. In this pro8edure, the surgeon enters the skull through a 2:-millimetre #1 in% hole behind the ear. &he ner?e is then eEplored 'or an o''ending blood ?essel, and when one is 'ound, the ?essel and ner?e are separated or Pde8ompressedP with a small pad, usually made 'rom an inert surgi8al material su8h as &e'lon. -hen su88ess'ul, ,KD pro8edures 8an gi?e permanent pain relie' with little to no 'a8ial numbness. &hree other pro8edures use needles or 8atheters that enter through the 'a8e into the opening where the ner?e 'irst splits into its three di?isions. DE8ellent su88ess rates using a 8ost e''e8ti?e per8utaneous surgi8al pro8edure known as balloon *ompression ha?e been reportedT1FU. &his te8hniHue has been help'ul in treating the elderly 'or whom surgery may not be an option due to 8oeEisting health 8onditions. )alloon 8ompression is also the best 8hoi8e 'or patients who ha?e ophthalmi8 ner?e pain or ha?e eEperien8ed re8urrent pain a'ter mi8ro?as8ular de8ompression. !imilar su88ess rates ha?e been reported with gly8erol inje8tions and radio'reHuen8y rhiNotomies. 9ly8erol inje8tions in?ol?e inje8ting an al8ohol-like substan8e into the 8a?ern that bathes the ner?e near its jun8tion. &his liHuid is 8orrosi?e to the ner?e 'ibers and 8an mildly injure the ner?e enough to hinder the errant pain signals. In a radio'reHuen8y rhiNotomy, the surgeon uses an ele8trode to heat the sele8ted di?ision or di?isions

o' the ner?e. Done well, this pro8edure 8an target the eEa8t regions o' the errant pain triggers and disable them with minimal numbness.

[edit] Stereotactic radiation therapy

&he ner?e 8an also be damaged to pre?ent pain signal transmission using 9amma Kni'e or a linear a88eleratorbased radiation therapy #e.g. &rilogy, 3o?alis, 6yberKni'e%. 3o in8isions are in?ol?ed in this pro8edure. It uses ?ery pre8isely targeted radiation to bombard the ner?e root, this time targeting the sele8ti?e damage at the same point where ?essel 8ompressions are o'ten 'ound. &his option is used espe8ially 'or those people who are medi8ally un'it 'or a long general anaestheti8, or who are taking medi8ations 'or pre?ention o' blood 8lotting #e.g., war'arin, heparin, aspirin%. 7 prospe8ti?e Phase I trial per'ormed at ,arseille, 1ran8e, showed that F/ o' patients were pain-'ree at 12 months, with :F pain-'ree and o'' all medi8ations. !ide e''e8ts were mild, with A eEperien8ing mild tingling and ; eEperien8ing mild numbness.T1<U &here has only been one prospe8ti?e 8lini8al trial 'or surgi8al therapy 'or trigeminal neuralgia. In a prospe8ti?e 8ohort trial, mi8ro?a8ular de8ompression was 'ound to be signi'i8antly superior to stereota8ti8 radiosurgery in a8hie?ing and maintaining a pain-'ree status in patients with trigeminal neuralgia and pro?ided similar early and superior longer-term patient satis'a8tion rates 8ompared with those treated with stereota8ti8 radiosurgery T20U

[edit] Social consequences of trigeminal neuralgia

,ost su''ers o' &3 do not present with any outwardly noti8eable symptoms, though some will eEhibit brie' 'a8ial spasms during an atta8k. !ome physi8ians will seek a psy8hologi8al root 8ause rather than a physiologi8al abnormality. &his is espe8ially true o' those su''ering 'rom atypi8al &3, who may not ha?e any 8ompression o' the &3 and in whom the sole 8riterion o' the diagnosis may be the 8omplaint o' se?ere pain #8onstant ele8tri8like sho8ks, 8onstant 8rushing or pressure sensations, or a 8onstant se?ere a8he% and in this 8ase trigeminal neuralgia still eEists but is not ?isible to physi8ians be8ause it was 8aused by the ner?e being damaged during a dental pro8edure su8h as root 8anals, eEtra8tions, gum surgeries or it may be a 8ondition se8ondary to multiple s8lerosis. ,any &3 su''erers are 8on'ined to their homes or are unable to work be8ause o' the 'reHuen8y o' their atta8ks. It is important 'or 'riends and 'amily to edu8ate themsel?es on the intense se?erity o' &3 pain and to be understanding o' limitations that &3 pla8es upon the su''erer. Howe?er, at the same time, the &3 patient must be eEtremely proa8ti?e in 'urthering his or her rehabilitati?e e''orts. Dnrolling in a 8hroni8 pain support group, or seeking one-on-one 8ounseling, 8an help to tea8h a &3 patient how to adapt to the new'ound a''li8tion. 7s with any 8hroni8 pain syndrome, 8lini8al depression has the potential to set in, espe8ially in younger patients who o'ten are undertreated 'or 8hroni8 pain. 1riends and 'amily, as well as 8lini8ians, must be alert to the signs o' a rapid 8hange in beha?ior and should take appropriate measures when ne8essary. It must be 8onstantly rein'or8ed to the su''erer o' &3 that treatment options do eEist.

[edit] Other
In one 8ase o' trigeminal neuralgia asso8iated with tongue-pier8ing, the 8ondition resol?ed a'ter the jewelry was remo?ed.T21U !ome patients ha?e reported a 8orrelation between dental work and the onset o' their trigeminal ner?e pain. Ce8ently, some resear8hers ha?e in?estigated the link between neuropathi8 pain, su8h as &3, and 8oelia8 disease.Tcitation neededU

>edit? 3otable *ases

7ustralian author 6olleen ,86ullough has trigeminal neuralgia and has undergone surgi8al treatment in *an 2010.T22U

High pro'ile entrepreneur and author ,elissa !eymour was diagnosed with &rigeminal 3euralgia in 200< and underwent ,i8ro?as8ular De8ompression !urgery in a well do8umented 8ase 8o?ered by magaNines and newspapers whi8h helped to raise publi8 awareness o' the illness in 7ustralia. !eymour was subseHuently made a Patron o' the &rigeminal 3euralgia 7sso8iation o' 7ustralia. T2/U *im 1itNpatri8k, the )ritish ,ember o' Parliament 'or Poplar and (imehouse dis8losed that he was a su''erer 'rom the 8ondition when laun8hing a Parliamentary debate on it on 25 *uly 2010.T2;U
>edit? "ee also &rigeminal trophi8 syndrome *ohn ,urray 6arno8han

>edit? Referen*es 1. 2. /. ;. :. A. 5. F. <. 10. 11. 12. 1/. 1;. 1:. 1A. 15. 1F. 1<. 20. 21. 22. 2/. 2;. G Capini, Conald P.B )olognia, *ean (.B *oriNNo, *oseph (. #2005%. Dermatology: 2-Volume Set. !t. (ouis2 ,osby. pp. 101. I!)3 1-;1A0-2<<<-0. G )ayer D), !tenger &9 #1<5<%. P&rigeminal neuralgia2 an o?er?iewP. ral Surg! ral "ed! ral Pat#ol! EH #:%2 /</W<. doi210.101A$00/0-;220#5<%<00A;-1. P,ID 22A<1:. G !atta !armah #200F%. P3er?e disorderVs pain so bad itVs 8alled the Vsui8ide diseaseVP. "edill $eports C#icago. http2$$news.medill.northwestern.edu$8hi8ago$news.aspE"id>5<F15 G )loom, C. PDmily 9arland2 7 young girlVs pain'ul problem took more than a year to diagnoseP #PD1%. http2$$www.tnasupport.org$newlook$sglR'iles$library$newsletters$middletenn$200: 203o?ember-De8ember 20web 20pages.pd'. G http2$$news.medill.northwestern.edu$8hi8ago$news.aspE"id>5<F15 G http2$$timeso'india.indiatimes.8om$8ity$kolkata-$)eating-sui8ide-disease-with-hi-te8h-8ure$arti8leshow$A1:/255.8ms G P3eurologi8al !urgery - 1a8ial PainP. +regon Health G !8ien8e 4ni?ersity. http2$$www.ohsu.edu$'a8ialpain$'a8ialRpaindE.shtml. G )ur8hiel K* #200/%. P7 new 8lassi'i8ation 'or 'a8ial painP. %eurosurgery 6D #:%2 11A;WAB dis8ussion 11AAW5. doi210.1225$01.3D4.00000FFF0A.11A:<.DF. P,ID 1;:F02F;. http2$$meta.wkhealth.8om$pt$pt-8ore$templatejournal$lwwgateway$media$landingpage.htm"issn>01;F-/<AOG?olume>:/Gissue>:Gspage>11A;. G )abu C, ,urali C #1<<1%. P7ra8hnoid 8yst o' the 8erebellopontine angle mani'esting as 8ontralateral trigeminal neuralgia2 8ase reportP. %eurosurgery ,H #A%2 FFAW5. doi210.10<5$0000A12/-1<<10A000-0001F. P,ID 20A5A1;. G P&ongue pier8ing brings on Xsui8ide diseaseV - &he 9lobe and ,ailP. http2$$www.theglobeandmail.8om$ser?let$story$C&97,.200A1015.wtongues1015$)3!tory$spe8ial!8ien8eandHealth$home. Cetrie?ed 200<-05-1F. G 6ru88u 9, )iasiotta 7, Di CeNNe !, et al! #*une 200<%. P&rigeminal neuralgia and pain related to multiple s8lerosisP. Pain !ED #/%2 1FAW<1. doi210.101A$j.pain.200F.12.02A. P,ID 1<151;/0. http2$$linkinghub.else?ier.8om$retrie?e$pii$!0/0;/<:<#0F%005A0-;. G De !imone C, ,arano D, )res8ia ,orra K, et al! #,ay 200:%. P7 8lini8al 8omparison o' trigeminal neuralgi8 pain in patients with and without underlying multiple s8lerosisP. %eurol! Sci! ,7 "uppl ,2 s1:0W1. doi210.1005$s10052-00:-0;/1-F. P,ID 1:<2A01A. G !indrup, !H.B *ensen, &!. #2002%. PPharma8otherapy o' trigeminal neuralgia.P. Clin & Pain !H #1%2 22W5. doi210.10<5$00002:0F-200201000-0000;. P,ID 11F0/2<<. G http2$$s8ien8elinks.jp$j-east$arti8le$200A11$0000200A110A702A2//<.php G http2$$www.ukmi8entral.nhs.uk$headline$database$story.asp"o''set>200G3ewsID>;0<F G http2$$jmedi8al8asereports.8om$jmedi8al8asereports$arti8le$?iew$522<$/2;A G http2$$neurosurgery.u8s'.edu$indeE.php$painRtreatmentRtrigeminalRneuralgia.htmlY,KD G 3atarajan, , #2000%. PPer8utaneous trigeminal ganglion balloon 8ompression2 eEperien8e in ;0 patientsP. %eurology '%eurological Society of (ndia) EH #;%2 //0W2. P,ID 111;A:<:. G CZgis *, ,etellus P, Hayashi ,, Coussel P, Donnet 7, )ille-&ur8 1 #200A%. PProspe8ti?e 8ontrolled trial o' gamma kni'e surgery 'or essential trigeminal neuralgiaP. &! %eurosurg! !/E #A%2 <1/W2;. doi210./151$jns.200A.10;.A.<1/. P,ID 1A55A//:. G (inskey ,D, Catanatharathorn K, Pe[agari8ano *. * 3eurosurg #200F%. P7 prospe8ti?e 8ohort study o' mi8ro?as8ular de8ompression and 9amma Kni'e surgery in patients with trigeminal neuralgiaP. &ournal of neurosurgery !/C "uppl2 1A0W 52. doi210./151$*3!$200F$10<$12$!2: #ina8ti?e 200<-11-0<%. P,ID 1<12/<0;. G 9aNNeri, CB ,er8uri, !. G 9alarNa ,. #200A%. P7typi8al trigeminal neuralgia asso8iated with tongue pier8ingP. &A"A ,C7 #1:%2 1F;0W1. doi210.1001$jama.2<A.1:.1F;0-b. P,ID 150;521/. G http2$$www.news.8om.au$story$0,25:5;,2A;1/01:-;21,00.html G http2$$womansday.ninemsn.8om.au$true8on'essions$trueli'estories$F252<2$melissa-seymour-my-per'e8t-li'e-is-o?er G *ansard, H6 Aser ?ol :1; 8ols <5;-F0.

5ri eminal 3eural ia $Fa*ial 3er@e Pain%

Trigeminal Neuralgia Overview
&rigeminal neuralgia 8auses 'a8ial pain. &rigeminal neuralgia de?elops in mid to late li'e. &he 8ondition is the most 'reHuently o88urring o' all the ner?e pain disorders. &he pain, whi8h 8omes and goes, 'eels like bursts o' sharp, stabbing, ele8tri8-sho8ks. &his pain 8an last 'rom a 'ew se8onds to a 'ew minutes. People with trigeminal neuralgia be8ome plagued by intermittent se?ere pain that inter'eres with 8ommon daily a8ti?ities su8h as eating and sleep. &hey li?e in 'ear o' unpredi8table pain'ul atta8ks, whi8h leads to sleep depri?ation and undereating. &he 8ondition 8an lead to irritability, se?ere anti8ipatory anEiety and depression, and li'e-threatening malnutrition. !ui8idal depression is not un8ommon. People o'ten 8all trigeminal neuralgia Pti8 douloureuEP be8ause o' a 8hara8teristi8 mus8le spasm that a88ompanies the pain.

&he pain 8omes 'rom one or more bran8hes o' the trigeminal ner?e-the major 8arrier o' sensory in'ormation 'rom the 'a8e to the brain. &here are / bran8hes o' the trigeminal ner?e2 the ophthalmi8, maEillary, and mandibular. &he pain o' trigeminal neuralgia o88urs almost eE8lusi?ely in the maEillary and mandibular di?isions. o =ou most 8ommonly 'eel pain in the maEillary ner?e, whi8h runs along your 8heekbone, most o' your nose, upper lip, and upper teeth. 3eEt most 8ommonly a''e8ted is the mandibular ner?e, a''e8ting your lower 8heek, lower lip, and jaw. In almost all 8ases #<5 %, pain will be restri8ted to one side o' your 'a8e. ,ost o' the time, do8tors 8annot identi'y any disease o' the trigeminal ner?e or the 8entral ner?ous system. &rigeminal neuralgia most 'reHuently a''e8ts women older than :0 years. &he disease o88urs rarely in those younger than /0 years. !u8h 8ases are usually linked to damage 'rom diseases o' 8entral ner?ous system, 'or eEample, multiple s8lerosis.
o

Trigeminal Neuralgia Causes

&he 8ondition has no 8lear-8ut 8ause. !ome eEperts argue that the syndrome is 8aused by traumati8 damage to the ner?e as it passes 'rom the openings in the skull to the mus8les and tissue o' the 'a8e. &he damage 8ompresses the ner?e, 8ausing the ner?e 8ell to shed the prote8ti?e and 8ondu8ti?e 8oating #demyelination%. o +thers belie?e the 8ause stems 'rom bio8hemi8al 8hange in the ner?e tissue itsel'. o 7 more re8ent notion is that an abnormal blood ?essel 8ompresses the ner?e as it eEits 'rom the brain itsel'. In all 8ases, though, an eE8essi?e burst o' ner?ous a8ti?ity 'rom a damaged ner?e 8auses the pain'ul atta8ks.
o

Trigeminal Neuralgia Symptoms

7 de'ining 'eature o' trigeminal neuralgia is the trigger None-a small area in the 8entral part o' the 'a8e, usually on a 8heek, nose, or lip, that, when stimulated, triggers a typi8al burst o' pain.
o o

7 light tou8h or ?ibration is the most e''e8ti?e trigger. )e8ause o' this, many 8ommon daily a8ti?ities trigger the atta8ks. -ashing your 'a8e, brushing your teeth, sha?ing, or talking

6ommon sensations su8h as ha?ing wind hit your 'a8e Dating and 8hewing ,any people a?oid 'ood and drink rather than eEperien8e the se?ere pain. o &hese people risk weight loss and dehydration, a leading 8ause o' hospitaliNation in this group. o People 'reHuently reHuire hospitaliNation 'or rapid pain 8ontrol when their trigeminal neuralgia be8omes unmanageable at home. )etween atta8ks, most people remain relati?ely pain-'ree. 7 subgroup, howe?er, eEperien8e a dull a8he between atta8ks, suggesting physi8al 8ompression o' the a''e8ted ner?e, either by a blood ?essel or some other stru8ture.

When to See Medical Care

6onta8t your do8tor when you begin to ha?e these pains.

It is essential you see a do8tor 'amiliar with the 8are o' patients with trigeminal neuralgia early on to help pre?ent the de?elopment o' more se?ere 8ompli8ations. It is espe8ially important to work with your do8tor be8ause with appropriate drug therapy trigeminal neuralgia 8an almost always be 8ontrolled.

!eek immediate medi8al attention or go to a hospitalVs Dmergen8y Department under the 'ollowing 8ir8umstan8es2

-hen your 8urrent medi8ation does not 8ontrol the pain and you need immediate relie' -hen your pain pre?ents eating and drinking and pla8es you at risk 'or malnutrition or dehydration -hen you eEperien8e pro'ound side e''e8ts o' your medi8ation su8h as se?ere drowsiness, sedation, nausea, or ?omiting -hen a do8tor a

!"ams and Tests

=our do8tor must rule out a ?ariety o' other 8auses o' 'a8ial pain besides trigeminal neuralgia, in8luding ?arious unusual 'orms o' heada8he. 7typi8al neuralgia ,yo'as8ial pain &emporomandibular 'a8ial pain 6luster heada8hes (o8al disease in the sinuses, jaw, throat, and bones o' your head Physi8al eEamination o' the head will help de'ine other possible 8auses o' this pain'ul syndrome. Physi8al 'indings in people with trigeminal neuralgia are normal. 7 do8tor should 8omplete an initial neurologi8al eEamination to determine the presen8e o' other 8onditions, su8h as multiple s8lerosis, that are asso8iated with ner?e pain syndromes like trigeminal neuralgia. Do8tors reser?e more eEtensi?e testing, su8h as a 6& s8an or ,CI o' the head, 'or people in whom they suspe8t an asso8iated 8ondition, su8h as skull or brain tumor, in'e8tion, or neurologi8al 8ondition.
o o o o o

Trigeminal Neuralgia Treatment Self#Care at $ome

)e8ause the pain stems 'rom ner?es deep inside your skull, no home remedy is e''e8ti?e

Medical Treatment
&rigeminal neuralgia is eEtremely pain'ul but not li'e threatening. &hus, a goal o' therapy is minimiNing dangerous side e''e8ts. ,edi8ations used to treat trigeminal neuralgia are those used 'or many other ner?e pain syndromes-drugs originally designed to treat seiNures. &hese antiseiNure agents suppress eE8essi?e ner?e tissue a8ti?ity, whi8h is the 8ause o' the pain'ul syndrome. 7s a result, they are use'ul in 8onditions su8h as trigeminal neuralgia. Pain spe8ialists use in?asi?e therapy, in8luding ner?e blo8ks, ner?e destru8tion, and ner?e de8ompression te8hniHues, as well as drug therapy to treat trigeminal neuralgia.

In some instan8es, a single inje8tion, or a series o' inje8tions, or perhaps one de8ompressi?e pro8edure, will redu8e or eliminate the pain and pre?ent your need 'or a long 8ourse o' drug therapy. Inje8tion te8hniHues also 8an relie?e unremitting pain instantly and 'urther 8on'irm the diagnosis. 4sing real-time E-rays, do8tors 8an target the anatomi8al origin o' the ner?e deep in your skull. &hen, with a 'ine needle, they 8an do one o' the 'ollowing to halt the pain'ul syndrome2 o Inje8t that sour8e with anestheti8 and steroid. o Inje8t that ner?e with a drug used to destroy 'aulty 8ells. o &his pro8edure 8an be per'ormed with surprisingly little dis8om'ort.

Medications
Do8tors use / main drugs to treat trigeminal neuralgia-ba8lo'en #(ioresal%, 8arbamaNepine #&egretol%, and phenytoin #Dilantin%.

)a8lo'en is the sa'est o' the /, though less e''e8ti?e. ,any do8tors begin therapy with ba8lo'en and monitor its results o?er a weekVs time. 1or years, 8arbamaNepine had been the mainstay 'or treating this disorder. In 'a8t, many eEperts belie?e that i' you get no relie' 'rom 2 days o' 8arbamaNepine treatment, do8tors must re8onsider the diagnosis o' trigeminal neuralgia. o &he side e''e8ts o' this drug in8lude diNNiness, sedation, 8on'usion, and rash. o &he do8tor likely will 8omplete a series o' blood and urine tests be'ore beginning treatment to establish a baseline o' laboratory ?alues. o 6arbamaNepine in unusual instan8es 8auses a rare blood disease known as aplasti8 anemia. o 1reHuent blood monitoring a?oids this problem. =ou 8an eEpe8t to take 8onsistent doses o' this medi8ine 'or about A months be'ore your do8tor re8onsiders the dosing s8hedule.

Surgery
I' do8tors 8learly determine the 8ause o' the disorder to be 8ompression o' an artery on the trigeminal ner?e deep in your skull, a neurosurgeon 8an per'orm a mi8ro?as8ular de8ompression.

&he surgeon mo?es the 8ompressing artery to a lo8ation away 'rom the 8ompressed root o' the ner?e. &he major disad?antage is that it reHuires a neurosurgi8al operation-with all its 8ompli8ations-to get a88ess to the root o' the trigeminal ner?e.

Ne"t Steps Outloo

Do8tors do not know how to pre?ent trigeminal neuralgia, to predi8t who will get it, or determine who will respond to a parti8ular treatment until it is tried. 6learly, though, the o?erwhelming majority responds to at least one o' the treatments and 8an obtain eE8ellent bene'it 'rom it. ,ore and more people 'ind substantial relie' 'rom in?asi?e treatment, either anestheti8 inje8tions or de8ompressi?e therapy. It is ?ery rare that someone with trigeminal neuralgia does not obtain long-standing relie'.

Multimedia
,edia 'ile 12 3er?es o' the 'a8e that may be triggered.

Synonyms and %eywords

trigeminal neuralgia #'a8ial ner?e pain%, ti8 douloureuE, 'a8ial pain syndrome, demyelination, mi8ro?as8ular de8ompression

5ri eminal 3eural ia

Aut'or: ( "tep'en 4uff) +D) 7sso8iate Pro'essor, Dmergen8y ,edi8ine and 3eurology, Department o' Dmergen8y ,edi8ine, 4ni?ersity o' Kirginia Health !8ien8es 6enter 6ontributor In'ormation and Dis8losures 4pdated2 ,ar 2;, 2010

#ntrodu*tion

&ac ground
&rigeminal neuralgia #&3%, also known as ti8 douloureuE, is a pain syndrome re8ogniNable by the patientVs history. &rigeminal neuralgia is 8hara8teriNed by pain o'ten a88ompanied by a brie' 'a8ial spasm or ti8. Pain distribution is unilateral and 'ollows the sensory distribution o' 8ranial ner?e K, typi8ally radiating to the maEillary #K2% or mandibular #K/% area. 7t times, both distributions are a''e8ted. Physi8al eEamination will usually eliminate alternati?e diagnoses. !igns o' 8ranial ner?e dys'un8tion or other neurologi8 abnormality eE8lude the diagnosis o' idiopathi8 trigeminal neuralgia and suggest that pain may be se8ondary to a stru8tural lesion.

'athophysiology
&he me8hanism o' pain produ8tion remains 8ontro?ersial. +ne theory suggests that peripheral injury or disease o' the trigeminal ner?e in8reases a''erent 'iring in the ner?eB 'ailure o' 8entral inhibitory me8hanisms may be in?ol?ed as well. Pain is per8ei?ed when no8i8epti?e neurons in a trigeminal nu8leus in?ol?e thalami8 relay neurons. In about F: o' 8ases, no lesion is identi'ied e?en a'ter eEtensi?e in?estigations, and the etiology is labeled idiopathi8 by de'ault and is then 8ategoriNed as 8lassi8 trigeminal neuralgia. 7neurysms, tumors, 8hroni8 meningeal in'lammation, or other lesions may irritate trigeminal ner?e roots along the pons 8ausing symptomati8 trigeminal neuralgia. 7n abnormal ?as8ular 8ourse o' the superior 8erebellar artery is o'ten 8ited as the 8ause. 4n8ommonly, an area o' demyelination 'rom multiple s8lerosis may be the pre8ipitant. (esions o' the entry None o' the trigeminal roots within the pons may 8ause a similar pain syndrome. 7n area o' demyelination is shown in the image below. """"""""""""""""gambar hilang""""

+i*ros*opi* demonstration of demyelination in primary tri eminal neural ia. A tortuous a;on is surrounded by abnormally dis*ontinuous myelin. Ele*tron mi*ros*ope) D) D// I.
In'reHuently, adja8ent dental 'illings 8omposed o' dissimilar metals may trigger atta8ks,1 and an atypi8al 8ase has been reported 'ollowing tongue pier8ing. 7 8ase report o' trigeminal neuralgia in a patient with spontaneous intra8ranial hypotension has been reportedB both 8onditions resol?ed 'ollowing surgi8al treatment o' a 8er?i8al root slee?e dural de'e8t.2

(requency

#nternational
&rigeminal neuralgia #&3% is un8ommon, with an estimated pre?alen8e o' 1:: 8ases per million persons.

Mortality)Mor*idity

3o mortality is asso8iated with idiopathi8 trigeminal neuralgia #&3%, although se8ondary depression is 8ommon i' a 8hroni8 pain syndrome e?ol?es. In rare 8ases, pain may be so 'reHuent that oral nutrition is impaired. In symptomati8 or se8ondary trigeminal neuralgia, morbidity or mortality relates to the underlying 8ause o' the pain syndrome.

Se"
&he male-to-'emale ratio is 22/.

+ge
De?elopment o' trigeminal neuralgia in a young person suggests the possibility o' multiple s8lerosis.

Idiopathi8 trigeminal neuralgia typi8ally o88urs in patients in the siEth de8ade o' li'e, but it may o88ur at any age. !ymptomati8 or se8ondary trigeminal neuralgia tends to o88ur in younger patients.

Clini*al
$istory
History is the most important 'a8tor in the diagnosis o' trigeminal neuralgia #&3%.

3ature o' pain o Pain is brie' and paroEysmal, but it may o88ur in ?olleys o' multiple atta8ks. o Pain is stabbing or sho8klike and is typi8ally se?ere. Distribution o' pain o +ne or more bran8hes o' the trigeminal ner?e #usually maEillary or mandibular% are in?ol?ed. o Pain is unilateral #rarely bilateral%. Duration o' pain is typi8ally 'rom a 'ew se8onds to 1-2 minutes. Pain may o88ur se?eral times a dayB patients typi8ally eEperien8e no pain between episodes. &rigger points o Karious triggers may 8ommonly pre8ipitate a pain atta8k. o (ight tou8h or ?ibration is the most pro?o8ati?e. o 78ti?ities su8h as sha?ing, 'a8e washing, or 8hewing o'ten trigger an episode. o !timuli as mild as a light breeNe may pro?oke pain in some patients. Pain pro?okes brie' mus8le spasm o' the 'a8ial mus8les, thus produ8ing the ti8.

'hysical
Physi8al eEamination 'indings are normalB in 'a8t, a normal neurologi8 eEamination is part o' the de'inition o' 8lassi8 trigeminal neuralgia #&3%. Per'orm a 8are'ul eEamination o' the 8ranial ner?es, in8luding the 8orneal re'leE.

)e alert to the presen8e o' any abnormality on physi8al eEamination. 7bnormality suggests that the pain syndrome is se8ondary to another pro8ess. Cemember that patients report pain 'ollowing stimulation o' a trigger pointB thus, some patients may limit their eEamination 'or 'ear o' stimulating these points.

Causes
,ost patientsV 8onditions are idiopathi8, but 8ompression o' the trigeminal roots by tumors or ?as8ular anomalies may 8ause similar pain #see Pathophysiology%.

Differential Dia noses

,ultiple !8lerosis &emporomandibular *oint !yndrome

Other 'ro*lems to &e Considered

7typi8al 'a8ial pain 9lossopharyngeal neuralgia &emporomandibular joint pain

6ompression o' trigeminal roots 'rom tumors or aberrant ?essels Dental problems

<orkup
,maging Studies

Patients with 8hara8teristi8 history and normal neurologi8 eEamination may be treated without 'urther workup. !ome physi8ians re8ommend ele8ti?e ,CI 'or all patients to eE8lude an un8ommon mass lesion or aberrant ?essel 8ompressing the ner?e roots. Per'orm an ,CI i' atypi8al 'eatures are present. In a published pra8ti8e parameter, the 7meri8an 78ademy o' 3eurology stated that be8ause o' in8onsisten8y o' studies, there was insu''i8ient e?iden8e to support or re'ute the use'ulness o' ,CI or a spe8i'i8 ,CI te8hniHue to identi'y ?as8ular anomalies. &he re8ommendation was that, 'or patients with trigeminal neuralgia, routine imaging may be 8onsidered to identi'y symptomati8 trigeminal neuralgia, and this was graded as a (e?el 6 or possibly e''e8ti?e a8tion./

(a*kson-<eiss syndrome
1rom -ikipedia, the 'ree en8y8lopedia Dari -ikipedia )ahasa ,elayu, ensiklopedia bebas *ump to2 na?igation , sear8h (angsung ke2 na?igasi , 8ari (a*kson-<eiss syndrome #*-!% is a geneti8 disorder 8hara8teriNed by 'oot abnormalities and the premature 'usion o' 8ertain bones o' the skull # 8raniosynostosis %, whi8h pre?ents 'urther growth o' the skull and a''e8ts the shape o' the head and 'a8e. T 1 U It 8an also 8ause mental retardation and sometimes 8rossed eyes as well. (a*kson-<eiss syndrome #*-!% adalah suatu gangguan genetik yang ditandai dengan kelainan kaki dan prematur 'usi tulang tengkorak tertentu # 8raniosynostosis %, yang men8egah pertumbuhan lebih lanjut dari tengkorak dan mempengaruhi bentuk kepala dan wajah. T1U Ini juga dapat menyebabkan keterbelakangan mental dan kadang-kadang melintasi mata juga. It was 8hara8teriNed in 1<5A. T 2 U Hal ini ditandai pada tahun 1<5A. T2U

> edit ? Presentation > suntin ? Presentasi

,any o' the 8hara8teristi8 'a8ial 'eatures o' *a8kson--eiss syndrome result 'rom the premature 'usion o' the skull bones and 'oot bones. )anyak 'itur wajah karakteristik hasil sindrom *a8kson--eiss dari 'usi prematur tulang tengkorak dan tulang kaki. &he head is unable to grow normally, whi8h 8an lead to a misshapen skull, widely spa8ed eyes, and a bulging 'orehead. Kepala tidak dapat tumbuh se8ara normal, yang dapat menyebabkan tengkorak 8a8at, mata luas spasi, dan dahi menonjol. 1oot abnormalities are the most 8onsistent 8hara8teristi8, as not all indi?iduals with *a8kson--eiss syndrome ha?e abnormal skull or 'a8ial 'eatures. kelainan 1oot adalah karakteristik yang paling konsisten, karena tidak semua indi?idu dengan sindrom *a8kson-eiss memiliki tengkorak yang tidak normal atau 'itur wajah. &he big toes are enlarged and bend away 'rom the other toes. *ari-jari kaki besar diperbesar dan tikungan jauh dari jari kaki lain. Hand abnormalities are rare. kelainan tangan jarang terjadi. People with *a8kson--eiss syndrome usually ha?e normal intelligen8e and a normal li'e span. +rang dengan sindrom *a8kson--eiss biasanya memiliki ke8erdasan normal dan jangka hidup normal.

> edit ? Epidemiolo y > suntin ? Epidemiolo i

*a8kson--eiss syndrome is a rare geneti8 disorderB its in8iden8e is unknown. *a8kson--eiss syndrome adalah gangguan genetik langka, kejadian tersebut tidak diketahui.

> edit ? Geneti*s > suntin ? Genetika

,utations in the 191C2 gene 8ause *a8kson--eiss syndrome. T / U &he 191C2 gene produ8es a protein 8alled 'ibroblast growth 'a8tor re8eptor 2 . T;U It o88urs in 8hromosome number 10. ,utasi pada 191C2 gen penyebab--eiss sindrom *a8kson. T/U 9en 191C2 menghasilkan protein yang disebut 'aktor pertumbuhan 'ibroblas reseptor 2 . T;U Ini terjadi pada jumlah kromosom 10. 7mong its multiple 'un8tions, this protein signals immature 8ells to be8ome bone 8ells in a de?eloping embryo and 'etus . Di antara beberapa 'ungsi nya, protein ini sinyal sel-sel yang belum matang menjadi sel-sel tulang dalam pengembangan embrio dan janin . 7 mutation in a spe8i'i8 part o' the 191C2 gene alters the protein and 8auses prolonged signaling, whi8h promotes the premature 'usion o' bones in the skull and 'eet. !ebuah mutasi dalam bagian tertentu dari gen 191C2 mengubah protein dan menyebabkan sinyal lama, yang mendorong 'usi prematur tulang di tengkorak dan kaki.

*a8kson--eiss syndrome is inherited in an autosomal dominant pattern. *a8kson--eiss syndrome diwariskan dalam autosom dominan pola. &his 8ondition is inherited in an autosomal dominant pattern, whi8h means one 8opy o' the altered gene in ea8h 8ell is su''i8ient to 8ause the disorder. Kondisi ini diwariskan dalam autosomal dominan pola, yang berarti satu salinan gen dalam sel masing-masing 8ukup untuk menyebabkan gangguan ini.

> edit ? 5reament > suntin ? 5reament

&reament 8an be done through surgery #multi-staged% 'or some 'a8ial 'eatures, 'eet, and 'ingers. T : U &reament dapat dilakukan melalui operasi #multi-bertahap% untuk beberapa 'itur wajah, kaki, dan jari. T:U
> edit ? Referen*es > suntin ? Referensi 1. G Heike 6, !eto ,, Hing 7, Palidin 7, Hu 1\, Preston C7, Dhrli8h 9D, 6unningham , #2001%. G 6 Heike, , !eto, Hing 7, Palidin 7, Hu 1\, C7 Preston, Dhrli8h 9D, 6unningham , #2001%. P6entury o' *a8kson--eiss syndrome2 'urther de'inition o' 8lini8al and radiographi8 'indings in PlostP des8endants o' the original kindredP. Am & "ed +enet !// #;%2 /1:W2;. doi 2 10.1002$ajmg.12AA . P,ID 11/;//2/ . P6entury o'--eiss sindrom *a8kson2 de'inisi lebih lanjut dan radiogra'i temuan

2.

/.

;. :.

klinis padaP hilang Pketurunan dariP keluarga asli !//. Am & "ed +enet #;%2 /1:-2;. D+I 2 10.1002$ajmg.12AA . P,ID 11/;//2/ . G *a8kson 6D, -eiss (, Ceynolds -7, 1orman &1, Peterson *7 #*une 1<5A%. G *a8kson ,, ( -eiss, -7 Ceynolds, &1 1orman, Peterson *7 #*uni 1<5A%. P6raniosynostosis, mid'a8ial hypoplasia and 'oot abnormalities2 an autosomal dominant phenotype in a large 7mish kindredP. &! P6raniosynostosis, hipoplasia mid'a8ial dan kelainan kaki2 suatu 'enotipe autosomal dominan dalam keluargaP 7mish besar. &! Pediatr! HH #A%2 <A/WF. doi 2 10.101A$!0022-/;5A#5A%F10:0-: . P,ID 12511<A . Pediatr! HH #A%2 <A/-F. D+I 2 10.101A$!0022-/;5A #5A% F10:0-: . P,ID 12511<A . G *abs D-, (i O, !8ott 71, ,eyers 9, 6hen -, D88les ,, ,ao *I, 6harnas (C, *a8kson 6D, *aye , #1<<;%. G jabs D-, (i O, 71 !8ott, ,eyers 9, - 6hen, D88les ,, ,ao *I, (C 6harnas, ,. *a8kson, , *aye #1<<;%. P*a8kson--eiss and 6rouNon syndromes are alleli8 with mutations in 'ibroblast growth 'a8tor re8eptor 2P. %at +enet H #/%2 25:W<. doi 2 10.10/F$ng11<;25: . P,ID 5F5;150 . P*a8kson--eiss dan sindrom 6rouNon adalah alelik dengan mutasi pada reseptor 'aktor pertumbuhan 'ibroblas 2P H. %at +enet #/%2 25:-<. D+I 2 10.10/F$ng11<;-25: . P,ID 5F5;150 . G 6hen (, Deng 6O #200:%. G 6hen (, Deng 6O #200:%. PColes o' 191 signaling in skeletal de?elopment and human geneti8 diseasesP. ,ront -iosci !/ 2 1<A1W5A. doi 2 10.25;1$1A51 . P,ID 1:5A<A55 . PPeran 191 signaling dalam rangka pengembangan dan penyakit genetika manusiaP 1<A1-1<5A. ,ront -iosci !/:. D+I 2 10.25;1$1A51 . P,ID 1:5A<A55 . G 1ryns, )uggenhout, *ean, 9riet #*uly 200:%. P*a8kson--eiss syndromP #in Dnglish%. G 1ryns, )uggenhout, *ean, 9riet #*uli 200:%. P*a8kson--eiss sindromP #dalam bahasa Inggris%. pp. 2 . http2$$www.orpha.net$data$patho$9)$uk-*a8kson-eiss!yndrome200:.pd' . hlm.. 2 http2$$www.orpha.net$data$patho$9)$uk-*a8kson--eiss!yndrome200:.pd' . Cetrie?ed 200<-0/-/1 . Diperoleh 200<$0/$/1.

>'ide?
?QdQe?QdQe

Geneti* disorder : Re*eptor defi*ien*ies Genetik an uan : &uban kekuran an

191C1 P'ei''er syndrome F K7(2 Kallmann syndrome P'ei''er sindrom F K7(2 Kallmann 191C1 sindrom 7pert syndrome F 7ntley-)iEler syndrome F P'ei''er syndrome F 6rouNon syndrome F 191C2 (a*kson-<eiss syndrome 7pert sindrom F 7ntley-)iEler sindrom F P'ei''er sindrom F 191C2 6rouNon sindrom F (a*kson-<eiss syndrome

9rowth 'a8tor re8eptor 191C/ 78hondroplasia F Hypo8hondroplasia F &hanatophori8 dysplasia 78hondroplasia F Ceseptor 191C/ Hypo8hondroplasia F &hanatophori8 dysplasia 'aktor pertumbuhan &91 beta Dndoglin $ 7lk-1 $ !,7D; # Hereditary hemorrhagi8 telangie8tasia % F &91)C1 $ re8eptors &91)C2 # (oeys-DietN syndrome % Dndoglin $ 7lk-1 $ !,7D; # herediter telangie8tasia &91 hemoragik % ] &91)C1 $ &91)C2 # (oeys DietN sindrom- % beta reseptor &hyroid hormone re8eptor &hyroid &hyroid hormone resistan8e Cesistensi hormon &iroid hormon reseptor &hyrotropin re8eptor &hyrotropin reseptor

6H391 8ongenital hypothyroidism 6H391 hipotiroidisme kongenital

Hormone re8eptor Hormon reseptor

Parathyroid hormone re8eptor *ansenVs metaphyseal 8hondrodysplasia F Pseudohypoparathyroidism *ansenVs Paratiroid hormon metaphyseal 8hondrodysplasia F Pseudohypoparathyroidism reseptor 7ndrogen re8eptor 7ndrogen reseptor 7ndrogen insensiti?ity syndrome F Kennedy disease !indrom androgen insensiti?itas F Kennedy penyakit

Dstrogen re8eptor Dstrogen insensiti?ity syndrome Insensiti?itas estrogen sindrom Ceseptor estrogen 9rowth hormone re8eptor (aron syndrome (aron sindrom Pertumbuhan hormon reseptor ,ineralo8orti8oid re8eptor PH717D pseudohypoaldosteronism PH717D pseudohypoaldosteronism ,ineralokortikoid reseptor 7nti-,^llerian hormone re8eptor Persistent ,ullerian du8t syndrome II F 1amilial hypo8al8iuri8 hyper8al8emia 7nti-mullerian Persistent mullerian sindrom saluran II F Keluarga hyper8al8emia hypo8al8iuri8 hormon reseptor (H re8eptor Ceseptor (H 1!H re8eptor Ceseptor 1!H ,ale-limited pre8o8ious puberty (aki-laki pubertas sebelum waktunya terbatas OO gonadal dysgenesis OO gonad disgenesis

+ther (ain Cobinow syndrome Cobinow sindrom

(a*kson-<eiss syndrome
)y *udy 6. Hawkins ,! &he 9ale 9roup In8., 9ale_more `

Definition
*a8kson--eiss syndrome #*-!% is a hereditary disease o' ?arying se?erity a''e8ting the skull, the 'a8e, and the 'eet. *-! is inherited in an autosomal dominant manner.

Des*ription
*a8kson--eiss syndrome is 8hara8teriNed by a small mid'a8e, unusual skull shape, and 'oot abnormalities. &he 'eet display ?ery wide big toes and webbing o' the skin between the se8ond and third toes. 7dditionally, the

toes are angled inward. )ony 'oot de'e8ts apparent on E ray in8lude short, wide 'oot bones and 'usion o' some o' the 'oot and ankle bones. &he hallmark skull di''eren8es asso8iated with *-! are 8aused by the premature 8losure o' skull sutures, or skull plates. +ther 'eatures in8lude a small jaw, 'lattening o' the nasal bridge and the middle third o' the 'a8e, and a beaked nose. &he eyes may be 8rossed and are widely set and slanting downward with droopy eyelids. High ar8hing o' the roo' o' the mouth or 8le't palate, an in8omplete 8losure o' the roo' o' the mouth, may also be present. ,ental retardation has been reported in some indi?iduals with *-!.

Geneti* profile
*a8kson--eiss syndrome is inherited in an autosomal dominant manner. &his means that possession o' only one 8opy o' the de'e8ti?e ene is enough to 8ause disease. -hen a parent has *a8kson--eiss syndrome ea8h o' his or her 8hildren ha?e a :0 8han8e to inherit the disease-8ausing mutation. *-! is belie?ed to ha?e a high rate o' penetran8e. &his means that almost all people who inherit the altered gene will mani'est symptoms. *-! has also o88urred spontaneously in babies with no 'amily history o' it or any similar disorder. &his is known as a sporadi8 o88urren8e. *-! has been asso8iated with 8hanges in two di''erent 'ibroblast growth 'a8tor re8eptor genes, the 191C1 and 191C2 genes. &he 'ibroblast growth 'a8tor re8eptor genes ser?e as a blueprint 'or proteins important in inhibiting growth during and a'ter embryoni8 de?elopment. 191C1 is lo8ated on human 8hromosome F in an area designated as Fp11.2-p11.1. 191C2 is lo8ated on human 8hromosome 10 in an area designated as 10H2A. 7s o' 2001, 191C1 has been asso8iated with *-! in only one reported patient who had an unusual presentation o' the disorder. &his patient displayed *-!Vs 8hara8teristi8 toes, 'oot bone 'usion, and short 'ingers, but only ?ery mild skull and 'a8ial di''eren8es. &he geneti8 8hange seen in this patient had been seen be'ore in a patient with symptoms mu8h like Pfeiffer syndrome, another inherited disorder that a''e8ts the skull, 'a8e, and hands. ,ost 8ommonly, *-! is asso8iated with 8hanges in 191C2. ,utations in 191C2 are also asso8iated with the more 8ommon CrouJon syndrome, a similar inherited disease that a''e8ts the skull and 'a8e. 7s o' 2001 it appears that the same mutations 8an be asso8iated with di''erent diseases. !ome 'amilies, like the original 7mish 'amily diagnosed with *a8kson--eiss syndrome, ha?e members who may appear to ha?e 6rouNon syndrome or P'ei''er syndrome. &he 'amily as a whole, howe?er, was diagnosed as ha?ing *a8kson--eiss syndrome. In 1<<A, two s8ientists proposed that the name *a8kson--eiss syndrome should stri8tly be used in 'amilies like the original *-! 'amily where di''erent 'amily members display 'eatures o' more than one o' these similar disorders #6rouNon, P'ei''er, and Apert syndromes%. 7s o' 2001, there is 8ontro?ersy regarding this suggestion.

Demo rap'i*s
*-! has been des8ribed in di''erent ra8es and geographi8 regions. &he original *a8kson--eiss 'amily was a large 7mish 'amily with at least 1/F a''e8ted members. *-! a''e8ts both seEes eHually. &he strongest risk 'a8tor 'or *-! is a 'amily history o' the disorder. 7s o' 2001, no pre8ise estimates on the 'reHuen8y o' *-! are a?ailable.

"i ns and symptoms

*a8kson--eiss syndromeVs hallmarks are ?ariable skull di''eren8es, 'lattened mid-'a8e, and wide big toes that angle inward toward ea8h other. &he hands are usually not in?ol?ed. Carely, dea'ness or mental retardation 8an be seen in people with *-!. !kull abnormalities ?ary between indi?iduals. 7bnormalities in skull shape happen when the sutures, or open seams between the bony plates that 'orm the skull, 'use be'ore they normally would. Premature 8losure o' the

skull sutures is known as *raniosynostosis. 9rowth o' the brain pushes outward on skull plates that ha?e not yet 'used. In *-! di''erent sutures may be in?ol?ed leading to di''erent head shapes. &he 'a8e may be lopsided due to skull de'ormity. 1a8ial di''eren8es also ?ary between indi?iduals with *a8kson--eiss syndrome. !ome indi?iduals ha?e no ob?ious 'a8ial di''eren8es. &he hallmark 'a8e o' *a8kson--eiss syndrome has ?ery prominent, bulging, down slanting, sometimes 8rossed eyes that are slightly 'urther apart than normal with droopy eyelids. &he middle third o' the 'a8e is underde?eloped and somewhat 'lattened with a beaked nose. &he 'orehead is rounded prominently and the hairline may be slightly lower on the 'orehead than usual. &he 8hin may be small and the lower jaw may 8ome 'orward more than normal. !ome people with *-! may ha?e 8le't palate or a steeply ar8hed palate #roo' o' the mouth%. &hese 8hanges may 8ause unusually nasal sounding spee8h or more serious spee8h di''i8ulties.

5'e feet display unusually 9ide bi toes t'at *ur@e in9ard to9ard ea*' ot'er. 5'e lar e bones of t'e foot may be fused or abnormally s'aped. "maller bones of t'e feet and toes may be abnormally s'aped or absent. 5'ese bony abnormalities may be ob@ious only on ; ray. 5'e fin ers and toes may be abnormally s'ort 9it' 9ebbin of t'e skin betDia nosis
6hara8teristi8 'a8ial 'eatures and unusual toes may be ob?ious to an untrained eye, but a thorough physi8al eEam by a physi8ian is ne8essary to 8he8k 'or less ob?ious di''eren8es. )ony di''eren8es may not be ob?ious, appearing only on E ray. )ony di''eren8es in the 'eet were 'ound 8onsistently, e?en in seemingly una''e8ted indi?iduals, in the original *a8kson--eiss syndrome 'amily. O ray is 8onsidered to be a ?ery important element in diagnosing *-!. O rays are also important in determining what spe8i'i8 type o' abnormal skull plate 'usion is present. D37 testing is a?ailable 'or *a8kson--eiss syndrome. &his testing is per'ormed on a blood sample in 8hildren and adults to 8on'irm a diagnosis made on physi8al 'eatures. Prenatal eneti* testin is also a?ailable. 7n unborn baby 8an be tested 'or *-! with D3A eEtra8ted 'rom 8ells obtained ?ia 8horioni8 ?illus sampling or amnio*entesis.

5reatment and mana ement

&here is no medi8ation or 8ure 'or *a8kson--eiss syndrome. &reatment, i' ne8essary, depends on an indi?idualVs symptoms. !urgery is always o''ered to 8orre8t the most se?ere physi8al 8ompli8ations, like 8le't palate. 1oot and 'a8ial abnormalities 8an also be treated with surgery i' they are bothersome to an a''e8ted indi?idual. 6osmeti8 surgery on the 'a8e 8an yield eE8ellent results. In many 8ases 'a8ial di''eren8es are so mild that surgi8al inter?ention is not re8ommended. 6ounseling and support groups may be help'ul to patients eEperien8ing emotional di''i8ulty due to physi8al di''eren8es. Geneti* *ounselin is o''ered to persons who ha?e this inheritable disorder. Parents with this disease ha?e a :0 8han8e o' passing it to ea8h o' their 8hildren. Prenatal diagnosis 'or *-! is a?ailable. &his prenatal geneti8 testing 8annot, howe?er, predi8t the se?erity or s8ope o' an indi?idualVs symptoms. In the 'uture, parents with geneti8 diseases like *a8kson--eiss syndrome may be able to opt 'or disease diagnosis 'rom a 8ell o' an embryo be'ore the embryo is introdu8ed to the motherVs womb. &his testing is 8alled preimplantation geneti8 diagnosis and is already a?ailable in some 8enters in the 4nited !tates.

Pro nosis
&he li'espan o' indi?iduals with *-! is normal. Intelligen8e is o'ten normal, though borderline intelligen8e and mental retardation ha?e been des8ribed in some patients with *-!. ween the se8ond and third toes. DEtra toes may be present at birth.

(a*kson-<eiss syndrome is a geneti8 disorder 8aused by mutations in the

191C2 gene on 8hromosome 10. It 8auses distin8ti?e birth de'e8ts o' the head, 'a8e and 'eet. It is not known how o'ten *a8kson--eiss syndrome o88urs, but some indi?iduals are the 'irst in their 'amilies to ha?e the disorder, while others inherit the geneti8 mutation in an autosomal dominant manner.

Symptoms
7t birth, the bones o' the skull are not joined togetherB they 8lose up as the 8hild grows. In *a8kson--eiss syndrome, the skull bones join together #'use% too early. &his is 8alled P8raniosynostosis.P &his 8auses2 misshapen skull widely spa8ed eyes bulging 'orehead unusually 'lat, underde?eloped middle area o' the 'a8e #mid'a8e hypoplasia% 7nother distin8ti?e group o' birth de'e8ts in *a8kson--eiss syndrome are in the 'eet2 the big toes are short and wide the big toes also bend away 'rom the other toes the bones o' some toes may be 'used together #8alled Psynda8tylyP% or abnormally shaped Indi?iduals with *a8kson--eiss syndrome usually ha?e normal hands, normal intelligen8e and a normal li'e span.

-iagnosis
Diagnosis o' *a8kson--eiss syndrome is based on the birth de'e8ts present. &here are other syndromes that in8lude 8raniosynostosis, su8h as 6rouNon syndrome or 7pert syndrome, but the 'oot abnormalities help distinguish *a8kson--eiss syndrome. I' there is doubt, a geneti8 test 8ould be done to help 8on'irm the diagnosis.

Treatment
!ome o' the birth de'e8ts present in *a8kson--eiss syndrome 8an be 8orre8ted or lessened by surgery. &reatment o' 8raniosynostosis and 'a8ial abnormalities is usually treated by do8tors and therapists who spe8ialiNe in head and ne8k disorders #8ranio'a8ial spe8ialists%. &hese teams o' spe8ialists o'ten work in a spe8ial 8ranio'a8ial 8enter or 8lini8. &he 3ational 6ranio'a8ial 7sso8iation has 8onta8t in'ormation 'or 8ranio'a8ial medi8al teams and also pro?ides 'inan8ial support 'or nonmedi8al eEpenses o' indi?iduals tra?eling to a 8enter 'or treatment.
!our8es2

-ul'sberg, Dri8. P*a8kson--eiss !yndrome.P 66DD 1amily Ddu8ation. 2A *an 200;. *ohns Hopkins ,edi8ine. < ,ay 200F

P*a8kson--eiss !yndrome.P IndeE o' Care Diseases. 3ational +rganiNation 'or Care Disorders. < ,ay 200F

P*a8kson--eiss !yndrome.P 9eneti8s Home Ce'eren8e. 2 ,ay 200F. 4.!. 3ational (ibrary o' ,edi8ine. < ,ay 200F

Kan )uggenhout, 9., G *.P. 1ryns. P*a8kson--eiss !yndrome.P *uly 200:. +rphanet Dn8y8lopedia. < ,ay 200F

-ebbed or 'used 'ingers and toes #synda8tyly% P#oto . A!D!A!"!