Bucuresti Final Cnbr

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<p>Sntoi i bolnavi, parteneri pentru VIA</p> <p>Managementul bulozelor genetice i imuneClaudia Covaciu MD and PhD</p> <p>Diagnostic: Epidermoliza buloas Diagnostic diferenial: -buloze genetice: Eritrodermia ihtioziform buloas Siemens (mut K1, K10), Aplazia cutis Buloza acantolitic tranzitorie a nn, -buloze dobndite: Scalded Skin Syndrome, Boal Lyel, Dermatit eroziv i veziculoas a nn, Necroliz Epidermic intrauterin</p> <p>Epidermolizele buloase:Frecvena n Europa: 1:50.000 Frecvena n Marea Britanie: 1: 17.000 Epidermoliza buloas simplex (mut n K14, K5, plectina) - afectare teg. superficial, vindecare cu hiperpigm, distrofia muscular</p> <p>Epidermoliza buloas joncional (mut. n LamB3, LamA3, LamC2; BP180; integrina -afectare teg+mucoase, vindecare cu hipergranulare, atrezia piloric Epidermoliza Buloas Distrofic (mut Col7A1) -afectare teg+mucoase, cicatrici vicioase deformante Sindrom Theresa Kindler (mut n Kindlin1) -afectare teg+mucoase, poikilodermie, fotosensibilitate, fragilitate cutanata, carcinoame frecvente</p> <p>Tehnici specifice de diagnostic</p> <p>Immunomapping -Imunofluorescena direct amplificatCol7A1Aspect normal</p> <p>K10</p> <p>-Imunohistochimie</p> <p>-Microscopie electronic</p> <p>-Diagnostic molecular</p> <p>Management 1.Complicaii: CARCINOAME, cicatrici vicioase pe teg. i mucoase, cu deformri articulare, sinechii, stricturi esofagiene, leziuni i cicatrici la nivelul cilor aeriene, digestive superioare, tract urinar, genitale, anale; malnutriie, caexie, dezechilibre hidroelectrolitice, amiloidoz, septicemii 2. Dificultate n efectuarea unor manopere: interzise leocoplast, pansamente simple, probleme la intubare, EKG (etc), stomatologie, ortopedie, manevre chirurgicale</p> <p>Toxic Epidermolytic Necrolysis (TEN)</p> <p>-frecven 1:100.000 -etiologie frecvent: antibiotice (cefalosporine, quinolone, peniciline), AINS, barbiturice anticonvulsivante, fenitoine etc</p> <p>Pemfigus: Pemfigus vulgar (Pemfigus vulgar; Pemfigus vegetant) Pemfigus superficial (Pemfigus foliaceu; Pemfigus seboreic, Fogo selvagem) Pemfigus paraneoplazic</p> <p>Pemfigus paraneoplazic (frecventa 1/1.000.000 persoane) -asociere cu limfoame, leucemii, carcinoame Investigatii specifice : -Imunofluorescen direct: (diagnostic diferenial Pemfigus/Pemfigoid bulos/Dermatita herpetiform) -Imunofluorescena indirect / Elisa -Ac. anti-desmogleina I (pemfigus superficial- leziuni strict cutanate, prognostic favorabil, redus corticodependena ) -Ac anti-Desmogleina III (Pemfigus vulgar, Pemfigus vegetant (leziuni buloase pe tegumente si mucoase, evolutie cronic progresiv , dependena de terapia imunosupresoare) -Ac anti-Desmoplakina (Pemfigus paraneoplazic)IFD cu IgG n reea n epiderm</p> <p>Turda, str.Amurgului nr. 25, Ap 20 www.minidebra.ro erika.burciu@minidebra.ro; 0745113729 gabriel.sararu@minidebra.ro klaudiacovaciu@yahoo.com; 0744605927</p>