Incontinentia pigmenti lossis Bloch-Sulzberger syndrome yog ib qho tsis tshua muaj genodermatosis, txuas rau X chromosome, ntawm autosomal dominant cim, uas cuam tshuam rau ectodermal thiab mesodermal cov ntaub so ntswg, xws li tawv nqaij, qhov muag, Cov hniav thiab lub hauv paus paj hlwb.
Tus IP caj ces yog dab tsi?
Incontinentia pigmenti (IP) yog ib qho kab mob caj ces nrog cov tawv nqaij sib txawv thiab cov kab mob pom thaum yug los lossis hauv thawj ob peb lub lis piam. Feem coob ntawm cov menyuam yaus uas muaj tus IP tsis muaj teeb meem thiab tej zaum tsuas yog mob me me xwb, yog tias tag nrho. Tab sis nyob ib ncig ntawm 20% txhim kho cov teeb meem neurological uas tuaj yeem muaj txij li mob me mus rau qhov hnyav.
Yuav ua li cas incontinentia pigmenti ua rau?
Mutations hauv IKBKG gene ua rau incontinentia pigmenti. IKBKG gene muab cov lus qhia rau kev ua cov protein uas pab tswj cov khoom siv nuclear-kappa-B. Nuclear factor-kappa-B yog ib pawg ntawm cov proteins uas muaj feem cuam tshuam los pab tiv thaiv cov hlwb los ntawm kev puas tsuaj rau tus kheej (ua rau apoptosis) hauv kev teb rau qee cov cim.
Dab tsi yog incontinentia pigmenti qhov muag?
BACKGROUND: Incontinentia pigmenti (tseem hu ua Bloch-Sulzberger syndrome) yogtsis tshua muaj, X-txuas, feem ntau cuam tshuam ntawm daim tawv nqaij ua rau hauv thaj chaw ntawm depigmentation txuam nrog ocular, kho hniav, plaub hau thiab hauv nruab nrab lub paj hlwb txawv txav, nrog rau kev puas hlwb thiab qaug dab peg.
Dab tsi yog incontinentia pigmenti Hom 1?
Incontinentia pigmenti (IP) yog a caj cesmob uas cuam tshuam rau ntawm daim tawv nqaij thiab lwm yam kab mob hauv lub cev. Cov tsos mob ntawm daim tawv nqaij hloov nrog lub sij hawm thiab pib nrog blistering pob liab liab nyob rau hauv me nyuam mos, ua raws li wart-zoo li daim tawv nqaij loj hlob. Cov kev loj hlob ua swirled grey los yog xim av thaj ua rau me nyuam yaus, thiab ces swirled lub teeb thaj ua rau neeg laus.
