
epidermolysis bullosa dystrophica

charmmatheyum mattu avayavangaleyum badhikkunna paarambarya rogamaanu epidermolysis bullosa dystrophica allengil dystrophic ibu (debb).
"butterfly child" ennathu rogavumaayi janikkunna oru kuttiyude samsaaranaamamaanu, kaaranam avarude charmmam chithrashalabhatthinte chirakukal pole athilolavum durbalavumaanennu kaanapedunnu.
adayaalangalum lakshanangalum.
nankooramidunna fibrilsinte kuravu epidermis adisthaana dermis thammilulla anusaranathe thadassappeduthunnu. debb rogikalude charmmatthil gurutharamaaya kumilakalk valare saadhyathayund. kolajan VII annanaala paaliyude eppitheeliyavumaayi bandhappettirikkunnu, koodaathe debb rogikalkku vittumaaraatha paadukal, webbing, annanaalathinte thadassam enniva undakam. badhita vyakthikal palappozhum vaaya, annanaala mucosa ennivaykku aaghaatham undaakunnath moolam gurutharamaaya poshakaahaarakkurav anubavikkunnu, koodaathe poshakaahaaratthinaayi feeding tubeukal aavasyamaanu. avaykku irumbinte kurravulla anischithamaaya uthbhavamulla anaemia undu, ithu vittumaaraatha ksheenathilekku nayikkunnu.
charmmatthile thuranna murivukal pathukke sukhappedukayo illayo cheiyunnu, palappozhum vyapakamaaya paadukal undaakukayum anubaadhaykk vidheyamaakukayum cheiyunnu. eee anubaadhakale cherukkaan palarum bleach vellavum cherthu kulikkunnu. vittumaaraatha veekkam baadhicha charmmakoshangalude dnal pishakukalilekku nayikkunnu, ithu schwamous sell carsinomic (essisi) kaaranamaakunnu. eee rogikalil bhooribhaagavum 30 vayassinu munbu ezz. sii. sii allengil debumaayi bandhapetta sankeernathakal moolam marikkunnu.
resussive dystrophic epidermolysis bullosayil (aarr. dii. iii. bii) kaanapedunna vittumaaraatha koshajwalanaavastha cheria fiber peripheral neuropathic (ezz. eph. enn) kaaranamakum; aarr. dii. iii. bii rogikal neuropathic vedana gunangalkk anusrithamaayi vedanayude samvedanam report cheythittundu.
kaaranagal.
protein tharam vii kolajan (kolajan vii) encode cheiyunna manushyante kooll7eiii1 jeeninullile janithaka vaikalyangal (allengil mutationukal) moolamaanu debb undaakunnath. debb-kaaranamaaya mutationukal prabalamo aprasakthamo aakam. eee avasthayulla kudumbamgangalulla mikka kudumbangalkkum vyathyasthamaaya mutationukal undu.
kolajan VII ennathu valare valia oru thanmathrayaanu (300 keey. dii. eiii), ithu oru ardhavrithaakrithiyilulla looping ghadana roopappeduthunnu ankering fibril. epidermal basement membran mukalile dermisile fibrilar kolaajanukalum thammilulla gadanaaparamaaya bandham nankooramidunna fibrils roopappeduthumennu karuthappedunnu.
pathophysiology.
kooll7eiii1 jeeninte mutationukalude abhaavathil, type VII kolajanethiraaya svayam rogaprathirodha prathikaranam epidermolysis bullosa akvisitta ennariyappedunna epidermolysis bullosayude oru roopathinu kaaranamakum.
type VII kolajan kuravumaayi bandhamillaattha paarambaryamaayi labhicha epidermolysis bullosa, junctional epidermolysis bullosa, epidermolysis bullosa simplexes enniva nilavilundu. epidermisinte mattu proteinukale encode cheiyunna jeenukalilo epidermisinteyum dermissinteyum jangshanile basement membranilo ulla mutationukalil ninnaan iva undaakunnath.
chikitsa.
2023 meyy maasathil, kolajan tharam VII alfa 1 cheyin (kooll 7 eiii 1) jeenil mutation (kall) ulla dystrophic epidermolysis bullosa ulla aalukalile murivukalude chikilsaykkaayi fda vaijuvekkin amgeekaaram nalki..

