
scarf syndrome

asthikooda vaikalyangal, cutis laxa, chraniostenosis, avyakthamaaya jananendriyangal, psychomoter retardation, mukha vaikalyangal ennivayaal savisheshamaaya oru apoorva syndrome aanu scarf syndrome. eee savisheshathakalaan scarf enna churukkezhuthu undaakkunnath. ithu lense-majevsky hyperostotic kullanmaarumaayi chila savisheshathakal pankidunnu. oru dasalaksham navajaathashishukkalil ekadesham oraal enna thothil undaakunna valare apoorvamaaya rogamaanith. maathrusahodaranmaaraaya rund purushanmaarilum 3 maasam praayamulla oru sthreeyilum ithu vaidyashaasthraparamaayi vivarichittundu. eee syndrome baadhicha kunjungalkku valare ayanja charmmamundaakaarund, ithu avarkk prayamaaya mukhabhaavam nalkunnu. dyspnia, vayarile hernia, hridayasambandhamaaya asukhangal, sandhikalude thakaraarukal, onniladhikam sandhikalude sthaanachalanangal enniva saadhyamaaya sankeernathakalil ulppedunnu. eee rogathinte anantharaavakaasham ex-linked resussive aanennu vishwasikkappedunnu.
adayaalangalum lakshanangalum.
scarf syndrominte ettavum savisheshamaaya adayaalangalum lakshanangalum churukkezhuthu vivarikkunnavayaan. asthikooda vaikalyangal, cutis laxa, chraniostenosis, avyakthamaaya jananendriyangal, psychomoter retardation, mukha vaikalyangal enniva ithil ulppedunnu. rogalakshanangalude theevratha oro vyakthikkum vyathyasthamayirikkum. prathyeka jananendria lakshanagal ozhikeyulla lakshanagal purushanmaarilum sthreekalilum samaanamaayi kaanapedum.
kaaranagal.
scarf syndrominte prathyeka kaaranam anjjaathamaanengilum ithu oru janithaka thakararaayi kanakkaakkappedunnu. ithu saadhaaranayaayi paarambaryamaayi labhichathaanennum oru resussive, aadipathyamulla jeane aayi pakarunnuvennum vishwasikkappedunnu.
pathophysiology.
scarf syndromine kaaranamakunna krithyamaaya janithaka parivartthanam ippol anjjaathamaanu. ennirunnaalum, eee syndrominte aadya rund kesukal report cheyyappettathu rund purusha kasinsukalilaayirunnathil anantharaavakaasha reethi ex-linked resussive aanennu kanakkaakkappedunnu, avar avarude ammamar vazhi bandhappettirunnu. ithinartham eee thakararumaayi bandhapetta jeane x chromosomilaanu sthithicheyyunnathu ennaanu. purushanmaarkk oru x chromosome maathrame ulloo ennathinaal, eee thakaraarin kaaranamaakunnathin orotta mutation maathrame aavashyamulloo. ithinu vipareethamaayi, sthreekalkku avarude rund ex chromosomukalilum oru mutation aavasyamaanu, ithu valare apoorvamaaya sambhavamaan. athinaal, scarf syndrome, ex-linked resussive disordezhs enniva purushanmaarilaan kooduthalaayi kaanappedunnath.
scarf syndrome baadhayumaayi bandhapetta ettavum saadhaaranamaaya lakshanangalilonnaya kattis laxa niravadhi vyathyastha jeenukalile mutationukal moolamaanu undaakunnath. eee jeenukalil "eiii. tii. pii. 6vii. 0eiii2", "eiii. tii. pii. 7eiii", "effemp2", "ellen", "eph. bii. ell. enn5" enniva ulppedunnu. ilaastik naarukalkk eee jeenukal utharavaadikalaanu, prathyekichu avaa engane roopappedunnu, avayude pravartthanam. ilaastik naarukal charmmathe neettaan anuvadikkukayum shwaasakoshathe vikasippikkaanum churunganum sahayikkukayum uyarnna rakthasammardhathil rakthayottam niyantrikkaan dhamanikale sahayikkukayum cheiyunnu. cutis laxayude anantharaavakaasha reethi ex-linked, autosomal dominent allengil autosomal resussive aakam. conjesteevu hart faily, shwaasakosha parajayam, dahananaalathinteyum moothranaaliyudeyum pravarthanarahithatha thudangiya scarf syndrome bandhapetta niravadhi sankeernathakalkku kaaranamaayi ariyappedunna onnaanu cutis laxa.
roganirnayam.
klinikkal avatharanangal, shaareerika parisodhana, munkaala medical charithrathinteyum kudumba charithrathinteyum vipulamaaya vilayiruthal, caryotype parisodhana ennivaye aashrayichaan roganirnayam. 46, XX anuyojyatha ennathu cariotype testtinte prathekshikkunna kandethalaan. laborattari parishodhanakalum diagnostic imajing roganirnayathinu saadhaaranayaayi apradhaanamaan. scarf syndrome sthireekarikkunnathinu maathaapithaakkalude bandhavum ex-linked, autosomal dominant, autosomal disordezhs ennivayude kudumba charithravum pariganikkanam.
chikitsa/prathirodham.
syndrome oru janithaka avasthayaayathinaal, eee syndrome prathyeka chikilsayilla. chikitsa rogathinu mathramullathalla, marichu scarf syndrominteyum athinte sankeernathakaludeyum anubandha adayaalangalum lakshanangalum kaikaaryam cheiyunnathinullathaanu.
munkaala kudumbacharitramaanu pradhana apakadasaadhyatha ghadakam. oraalkk rogam anantharaavakaashamaayi labhikkumenn ithu urappunalkunnilla, pakshe kudumbacharithramillaatha oralumaayi thaarathamyappeduthumbol ithu valare kooduthalaanu. mattu apakada gadakangalonnum kandethiyitla. ekkaaranathaal, cheyyaan kazhiyunna niravadhi prathirodha nadapadikal illa.
syndrominte kudumbacharitram undengil, bhaavithalamurayilekku rogam pakaraanulla saadhyatha vilayiruthunnathinayi kuttikale aasoothranam cheiyunnathinu munbu janithaka kaunsiling pariganikkanam. aarogyasthithiyil maattamillenn urappakkaan pathivayi rakthaparisodhanayum shaareerika parisodhanayum nadatthanam.
pravachanam.
scarf syndrominte roganirnayam anubhavappedunna adayaalangaludeyum lakshanangaludeyum theevrathayeyum anubandha sankeernathakal undo ennathineyum aasrayichirikkunnu. rogalakshanangal neriyathaanengil, gurutharamaaya lakshanangalulla oraalude roganirnayam mikachathaayirikkum. scarf syndromine pothuvaaya roganirnayamilla, oro kesilum ithu swathanthramaayi vilayiruthanam.
epidemiology.
lokamembaadumulla 1/1000000 ll thaazhe vyaapana nirakkulla eee syndrome valare apoorvamaanu. aarambikkunna praayam saadhaaranayaayi navajaathashishuvo shaishavakaalatho aanu, ennaal 7 vayassulla oru purushanilum oru cases report cheythittundu. oru prathyeka vamsheeyathayil syndrome kooduthalaayi kaanapedunnu ennathinu thelivukalonnumilla, ennaal ex-linked resussive anantharaavakaasham kaaranam ithu purushanmaarilaan kooduthalaayi kaanappedunnath. purushanmaarkk oru x chromosome maathrame ulloo ennathinaal, syndrome paarambaryamaayi labhikkunnathin oru mutation maathrame aavashyamulloo ennaanu ithinartham. sthreekalkku rund ex chromosomukalundu, athaayath paarambaryamaayi labhikkunnathin rund chromosomukalilum mutation undaayirikkanam.
nilavile gaveshanam.
scarf syndrome mathramulla oru gaveshanavum nilavil illa. ennirunnaalum, paarambaryamaayi labhichathum nediyathumaaya janithaka vaikalyangalkk chikitsa prathirodha reethiyum kandethunnathinekkuri gaveshanam sajeevamaayi nadakkunnu. mukhathe asaadhaaranathakalude janithaka kaaranangalekkurichum athumaayi bandhapetta sankeernathakaleyum lakshanangaleyum kurichulla netherlandsile gaveshanavum ithil ulppedunnu. EFNB1, TCF12 ennivayulppedeyulla chraniosynostosisuma bandhapetta puthiya kashwal jeenukalum Alx3, raab 23 ennivayulppedeyulla apoorva craniophasial vaikalyangalil ulppedunna jeenukalum eee padanatthil ulppedunnu. scarf syndrome vikasippikkunnathumaayi bandhapetta mattu jeenukale thirichariyaan eee gaveshanam sahayikkum. musculoskelital, connective tissue disordezhs ennivayude chikilsaykkaayi sarilumab kuthivayppukal upayogikkunnathu ulppedunna oru klinikkal trial yunaittad kingdatthil nadakkunnundu. eee klinikkal trialinu musculoskelital systethinteyum scarf syndrome polulla connective tissuevinteyum niravadhi vaikalyangalkk prayogikkaan kazhiyunna oru chikitsa vikasippikkanulla saadhyathayund.

